Experts in CMT built the CMT Gene Browser as a searchable, gene-centered reference for Charcot-Marie-Tooth disease (CMT) genetics. It brings together the genes known or suspected to cause CMT, the subtypes associated with each gene, inheritance patterns, genomic locations, gene and protein identifiers, evidence classifications, and the sentinel publications.
Why is the CMT Gene Browser Needed?
CMT genetic information is spread across many resources. HGNC, Ensembl, UniProt, OMIM, gnomAD, ClinVar, ClinGen, GeneReviews, MANE Select, the scientific literature, and other databases. Each provides important information, but none offers a complete, CMT-specific view.
That fragmentation makes even straightforward questions surprisingly difficult to answer. Which CMT subtypes are associated with a particular gene? What evidence supports the gene-disease relationship? Where’s the authoritative publication? What are the identifiers for cross-platform referencing? The CMT Gene Browser brings these pieces together into a unified research surface.
Each gene has a single record that connects its CMT associations with standardized identifiers, external resources, evidence classifications, and publications supporting the genotype-phenotype relationship. Rather than reconstructing the information across multiple databases and papers, you can begin here with a CMT-specific relationship already mapped and follow the underlying sources directly.
How to Use the CMT Gene Browser
You can search by gene symbol, gene name, genomic locus, HGNC identifier, or other indexed information. Results can be filtered by CMT classification, inheritance pattern, chromosome, mitochondrial involvement, and candidate-gene status, enabling examination of either an individual gene or a defined group of CMT genes.
Expanding a gene record reveals its associated CMT subtype(s), inheritance pattern(s), the year each association was first described, and the supporting publication. The record also connects directly to available HGNC, Ensembl, UniProt, OMIM, gnomAD, ClinVar, ClinGen, GeneReviews, MANE Select, and other records, allowing you to move from the CMT-specific view into the underlying genomic, variant, protein, clinical, or evidence data without needing to conduct a separate search at each platform.
Together, these search, filter, and cross-reference capabilities allow you to interrogate CMT genetics from multiple directions: “Which CMT subtypes are associated with this gene?” “Which autosomal recessive genes are associated with CMT2?” “What evidence and publications established this genotype-phenotype relationship?” And all from a single UI.
The CMT Gene Browser does not replace the databases it references. It instead connects them around the question they were not built to answer: What does this gene mean in CMT?
Genes, Chromosomes, and Unmapped CMT Subtypes
CMT disease genes are found on chromosomes 1 through 22, the X chromosome, and mitochondrial DNA (MT). No CMT gene has been mapped to the Y chromosome.
Five clinically described CMT subtypes have been mapped to a locus but do not have an identified disease gene: CMTX2, HMSN-5, HSAN-1B, HSN-1B, and dHMN-1. These subtypes remain part of the Experts in CMT dataset but are not surfaced here in the CMT Gene Browser because there is no gene record through which to connect them.
A Note About CMTX3
CMTX3 is the one record in the CMT Gene Browser that does not follow the gene-centered model. Its cause is not a coding gene but a structural rearrangement, an interchromosomal insertion at Xq27.1, represented in the International System for Human Cytogenomic Nomenclature (ISCN) notation as ins(X;8)(q27.1;q24.3) rather than by a gene symbol.
Although CMTX3 technically does not have a specific gene for the purpose of counting CMT genes, Experts in CMT counts its interchromosomal insertion as a gene in its datasets and includes it in the platform’s CMT gene count. Because HGNC does not provide an identifier for the rearrangement, the browser uses ISCN notation.
Candidate CMT Genes
Experts in CMT tracks candidate gene associations reported in the scientific literature, clinical or diagnostic contexts, or academic settings, but that do not currently meet the evidence criteria for inclusion as established CMT gene-disease associations.
Unlike the CMT Subtype Browser, where candidate genes are maintained separately from the primary results and excluded from CMT gene counts, the CMT Gene Browser surfaces candidate genes directly within the dataset. Each is clearly identified as a candidate, and researchers can use the Candidate Gene filter to isolate these records.
Experts in CMT does not attempt to resolve, validate, or adjudicate candidate gene associations. Their inclusion in the CMT Gene Browser provides researchers with visibility into reported CMT associations that remain preliminary, require further validation, or may warrant consideration as additional genetic and clinical evidence becomes available.
What the CMT Gene Browser Does Not Do
This page is intended as an educational and reference resource only. It does not provide medical advice, variant interpretation, diagnostic guidance, or disease management recommendations. Genetic testing, diagnosis, and healthcare decisions should always be made in consultation with a qualified healthcare professional.
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How to Cite
When citing the CMT Gene Browser, please use:
Experts in CMT. (2026). Experts in CMT: CMT Gene Browser (Version 1.0.3) [Data set]. Zenodo. https://doi.org/10.5281/zenodo.21970234
CMT Gene Browser
Every gene known to cause CMT. Each is cross-referenced to HGNC, Ensembl, UniProt, OMIM, MANE Select, gnomAD, ClinVar, and ClinGen, and lists every subtype it causes with its defining publication.
140+ CMT disease genes cataloged
170+ classified subtypes
Showing 159 genes
| Gene | Full name | Locus | Inh. | Subtypes | Subtype Classification | Details | ||||||||||||||||||||||||||||||
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| AARS1 | alanyl-tRNA synthetase 1 | 16q22.1 | AD | 2 | CMT2dHMN/HMN | |||||||||||||||||||||||||||||||
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Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala).
Also edits incorrectly charged tRNA(Ala) via its editing domain. In presence of high levels of lactate, also acts as a protein lactyltransferase that mediates lactylation of lysine residues in target proteins, such as TEAD1, TP53/p53 and YAP1. Protein lactylation takes place in a two-step reaction: lactate is first activated by ATP to form lactate-AMP and then transferred to lysine residues of target proteins. Acts as an inhibitor of TP53/p53 activity by catalyzing lactylation of TP53/p53. Acts as a positive regulator of the Hippo pathway by mediating lactylation of TEAD1 and YAP1External recordsHGNC:20OMIM 601065gnomADUniProt P49588ClinGenClinVar P/LPOrphanetMANE NM_001605.3GENESIS discovery
All stored identifiershgnc_idHGNC:20 ensembl_gene_idENSG00000090861 coords_grch38chr16:70251983-70289707 coords_grch37chr16:70286198-70323446 entrez_id16 omim_gene601065 uniprot_idsP49588 refseq_accessionNM_001605 mane_refseqNM_001605.3 mane_ensemblENST00000261772.13 |
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| ABHD12 | abhydrolase domain containing 12, lysophospholipase | 20p11.21 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes.
Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system (By similarity). Prefers as substrates lysophosphatidylserines having long and very long chain acyl chains. Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal. Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways. Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate bindingEvidencePanelApp Green
All stored identifiershgnc_idHGNC:15868 ensembl_gene_idENSG00000100997 coords_grch38chr20:25294742-25390922 coords_grch37chr20:25275379-25371619 entrez_id26090 omim_gene613599 uniprot_idsQ8N2K0 refseq_accessionNM_015600 mane_refseqNM_001042472.3 mane_ensemblENST00000339157.10 |
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| ADCY6 | adenylate cyclase 6 | 12q13.12 | — | — | Candidate | |||||||||||||||||||||||||||||||
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Catalyzes the formation of the signaling molecule cAMP downstream of G protein-coupled receptors.
Functions in signaling cascades downstream of beta-adrenergic receptors in the heart and in vascular smooth muscle cells. Functions in signaling cascades downstream of the vasopressin receptor in the kidney and has a role in renal water reabsorption. Functions in signaling cascades downstream of PTH1R and plays a role in regulating renal phosphate excretion. Functions in signaling cascades downstream of the VIP and SCT receptors in pancreas and contributes to the regulation of pancreatic amylase and fluid secretion (By similarity). Signaling mediates cAMP-dependent activation of protein kinase PKA. This promotes increased phosphorylation of various proteins, including AKT. Plays a role in regulating cardiac sarcoplasmic reticulum Ca(2+) uptake and storage, and is required for normal heart ventricular contractibility. May contribute to normal heart function (By similarity). Mediates vasodilatation after activation of beta-adrenergic receptors by isoproterenol. Contributes to bone cell responses to mechanical stimuli (By similarity)EvidencePanelApp Green
All stored identifiershgnc_idHGNC:237 ensembl_gene_idENSG00000174233 coords_grch38chr12:48766191-48789906 coords_grch37chr12:49159975-49182820 entrez_id112 omim_gene600294 uniprot_idsO43306 refseq_accessionNM_020983 mane_refseqNM_015270.5 mane_ensemblENST00000357869.8 |
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| AHNAK2 | AHNAK nucleoprotein 2 | 14q32.33 | — | — | Candidate | |||||||||||||||||||||||||||||||
All stored identifiershgnc_idHGNC:20125 ensembl_gene_idENSG00000185567 coords_grch38chr14:104937244-104978374 coords_grch37chr14:105403581-105444694 entrez_id113146 omim_gene608570 uniprot_idsQ8IVF2 refseq_accessionNM_138420 mane_refseqNM_138420.4 mane_ensemblENST00000333244.6 |
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| AIFM1 | apoptosis inducing factor mitochondria associated 1 | Xq26.1 | XLR | 1 | CMTX | |||||||||||||||||||||||||||||||
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Functions both as NADH oxidoreductase and as regulator of apoptosis.
In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. Release into the cytoplasm is mediated upon binding to poly-ADP-ribose chains (By similarity). The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA. Binds to DNA in a sequence-independent manner. Interacts with EIF3G, and thereby inhibits the EIF3 machinery and protein synthesis, and activates caspase-7 to amplify apoptosis. Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells. In contrast, participates in normal mitochondrial metabolism. Plays an important role in the regulation of respiratory chain biogenesis by interacting with CHCHD4 and controlling CHCHD4 mitochondrial importEvidencePanelApp Green
All stored identifiershgnc_idHGNC:8768 ensembl_gene_idENSG00000156709 coords_grch38chrX:130124666-130165884 coords_grch37chrX:129263337-129299861 entrez_id9131 omim_gene300169 uniprot_idsO95831 refseq_accessionNM_001130846 mane_refseqNM_004208.4 mane_ensemblENST00000287295.8 |
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| ARHGEF10 | Rho guanine nucleotide exchange factor 10 | 8p23.3 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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May play a role in developmental myelination of peripheral nerves Source: UniProt
External recordsHGNC:14103OMIM 608136gnomADUniProt O15013ClinGenClinVar P/LPOrphanetMANE NM_014629.4
All stored identifiershgnc_idHGNC:14103 ensembl_gene_idENSG00000104728 coords_grch38chr8:1823332-1958642 coords_grch37chr8:1772142-1906807 entrez_id9639 omim_gene608136 uniprot_idsO15013 refseq_accessionNM_001308152 mane_refseqNM_014629.4 mane_ensemblENST00000349830.8 |
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| ARPC3 | actin related protein 2/3 complex subunit 3 | 12q24.11 | — | — | Candidate | |||||||||||||||||||||||||||||||
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Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF).
The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs)
All stored identifiershgnc_idHGNC:706 ensembl_gene_idENSG00000111229 coords_grch38chr12:110434436-110450422 coords_grch37chr12:110872630-110888227 entrez_id10094 omim_gene604225 uniprot_idsO15145 refseq_accessionNM_001278556 mane_refseqNM_001278556.2 mane_ensemblENST00000228825.12 |
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| ATL1 | atlastin GTPase 1 | 14q22.1 | AD | 1 | HSN | |||||||||||||||||||||||||||||||
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Atlastin-1 (ATL1) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network.
It facilitates the formation of three-way junctions where ER tubules intersect. Two atlastin-1 on neighboring ER tubules bind GTP and form loose homodimers through the GB1/RHD3-type G domains and 3HB regions. Upon GTP hydrolysis, the 3HB regions tighten, pulling the membranes together to drive their fusion. After fusion, the homodimer disassembles upon release of inorganic phosphate (Pi). Subsequently, GDP dissociates, resetting the monomers to a conformation ready for a new fusion cycle. May also regulate more or less directly Golgi biogenesis. Indirectly regulates axonal development (By similarity)External recordsHGNC:11231OMIM 606439gnomADUniProt Q8WXF7ClinGenClinVar P/LPOrphanetMANE NM_015915.5
All stored identifiershgnc_idHGNC:11231 ensembl_gene_idENSG00000198513 coords_grch38chr14:50532509-50634017 coords_grch37chr14:50999227-51099786 entrez_id51062 omim_gene606439 uniprot_idsQ8WXF7 refseq_accessionNM_001127713 mane_refseqNM_015915.5 mane_ensemblENST00000358385.12 |
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| ATL3 | atlastin GTPase 3 | 11q13.1 | AD | 1 | HSN | |||||||||||||||||||||||||||||||
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Atlastin-3 (ATL3) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network.
It facilitates the formation of three-way junctions where ER tubules intersect. Two atlastin-3 on neighboring ER tubules bind GTP and form loose homodimers through the GB1/RHD3-type G domains and 3HB regions. Upon GTP hydrolysis, the 3HB regions tighten, pulling the membranes together to drive their fusion. After fusion, the homodimer disassembles upon release of inorganic phosphate (Pi). Subsequently, GDP dissociates, resetting the monomers to a conformation ready for a new fusion cycle (By similarity)External recordsHGNC:24526OMIM 609369gnomADUniProt Q6DD88ClinGenClinVar P/LPOrphanetMANE NM_015459.5
All stored identifiershgnc_idHGNC:24526 ensembl_gene_idENSG00000184743 coords_grch38chr11:63624087-63671921 coords_grch37chr11:63391559-63439393 entrez_id25923 omim_gene609369 uniprot_idsQ6DD88 refseq_accessionNM_015459 mane_refseqNM_015459.5 mane_ensemblENST00000398868.8 |
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| ATP1A1 | ATPase Na+/K+ transporting subunit alpha 1 | 1p13.1 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Catalytic subunit of the Na(+)/K(+)-ATPase pump that hydrolyzes ATP to exchange ions across the plasma membrane, exporting 3 Na(+) and importing 2 K(+) per cycle against electrochemical gradients.
It undergoes ATP-driven conformational changes that allow alternating binding and release of Na(+) and K(+) ions across the membrane. This process maintains essential Na(+) and K(+) gradients for membrane potential and cellular function. Could also be part of an osmosensory signaling pathway that senses body-fluid sodium levels and controls salt intake behavior as well as voluntary water intake to regulate sodium homeostasis (By similarity)External recordsHGNC:799OMIM 182310gnomADUniProt P05023ClinGenClinVar P/LPOrphanetMANE NM_000701.8GENESIS discovery
All stored identifiershgnc_idHGNC:799 ensembl_gene_idENSG00000163399 coords_grch38chr1:116372668-116410261 coords_grch37chr1:116915290-116952883 entrez_id476 omim_gene182310 uniprot_idsP05023 refseq_accessionNM_001160233 mane_refseqNM_000701.8 mane_ensemblENST00000295598.10 |
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| ATP7A | ATPase copper transporting alpha | Xq21.1 | XLR | 1 | dSMA | |||||||||||||||||||||||||||||||
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ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis.
Within a catalytic cycle, acquires Cu(+) ion from donor protein on the cytoplasmic side of the membrane and delivers it to acceptor protein on the lumenal side. The transfer of Cu(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state. Under physiological conditions, at low cytosolic copper concentration, it is localized at the trans-Golgi network (TGN) where it transfers Cu(+) ions to cuproenzymes of the secretory pathway. Upon elevated cytosolic copper concentrations, it relocalizes to the plasma membrane where it is responsible for the export of excess Cu(+) ions. May play a dual role in neuron function and survival by regulating cooper efflux and neuronal transmission at the synapse as well as by supplying Cu(+) ions to enzymes such as PAM, TYR and SOD3 (By similarity). In the melanosomes of pigmented cells, provides copper cofactor to TYR to form an active TYR holoenzyme for melanin biosynthesis (By similarity)External recordsHGNC:869OMIM 300011gnomADUniProt Q04656ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_000052.7
EvidenceClinGen Moderate X-linked distal spinal muscular atrophy type 3PanelApp GreenClinGen dosage HI 3 · Sufficient evidence
All stored identifiershgnc_idHGNC:869 ensembl_gene_idENSG00000165240 coords_grch38chrX:77910688-78050395 coords_grch37chrX:77166194-77305892 entrez_id538 omim_gene300011 uniprot_idsQ04656 refseq_accessionNM_000052 mane_refseqNM_000052.7 mane_ensemblENST00000341514.11 |
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| BAG3 | BAG cochaperone 3 | 10q26.11 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Co-chaperone and adapter protein that connects different classes of molecular chaperones including heat shock proteins 70 (HSP70s), e.g.
HSPA1A/HSP70 or HSPA8/HSC70, and small heat shock proteins (sHSPs), e.g. HSPB8. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from HSP70s, thereby triggering client protein release. Nucleotide release is mediated via BAG3 binding to the nucleotide-binding domain (NBD) of HSP70s, whereas client release is mediated via binding to the substrate-binding domain (SBD). Has anti-apoptotic activity. Plays a role in the HSF1 nucleocytoplasmic transportExternal recordsHGNC:939OMIM 603883gnomADUniProt O95817ClinVar P/LPOrphanetMANE NM_004281.4GENESIS discovery
All stored identifiershgnc_idHGNC:939 ensembl_gene_idENSG00000151929 coords_grch38chr10:119650879-119677913 coords_grch37chr10:121410882-121437331 entrez_id9531 omim_gene603883 uniprot_idsO95817 refseq_accessionNM_004281 mane_refseqNM_004281.4 mane_ensemblENST00000369085.8 |
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| BICD2 | BICD cargo adaptor 2 | 9q22.31 | AD | 2 | SMA-LEP | |||||||||||||||||||||||||||||||
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Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin.
Facilitates and stabilizes the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Facilitates the binding of RAB6A to the Golgi by stabilizing its GTP-bound form. Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport via its interaction with RAB6A and recruitment of the dynein-dynactin motor complex. Contributes to nuclear and centrosomal positioning prior to mitotic entry through regulation of both dynein and kinesin-1. During G2 phase of the cell cycle, associates with RANBP2 at the nuclear pores and recruits dynein and dynactin to the nuclear envelope to ensure proper positioning of the nucleus relative to centrosomes prior to the onset of mitosis (By similarity)External recordsHGNC:17208OMIM 609797gnomADUniProt Q8TD16ClinVar P/LPOrphanetMANE NM_001003800.2GENESIS discovery
EvidencePanelApp Green
All stored identifiershgnc_idHGNC:17208 ensembl_gene_idENSG00000185963 coords_grch38chr9:92711363-92764866 coords_grch37chr9:95473645-95527094 entrez_id23299 omim_gene609797 uniprot_idsQ8TD16 refseq_accessionNM_015250 mane_refseqNM_001003800.2 mane_ensemblENST00000356884.11 |
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| BSCL2 | BSCL2 lipid droplet biogenesis associated, seipin | 11q12.3 | AD | 1 | dHMN/HMN | |||||||||||||||||||||||||||||||
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Mediates the formation of lipid droplets during the differentiation and maturation of adipocytes.
Together with LDAF1, defines the sites of lipid droplet formation in the endoplasmic reticulum and promotes the aggregation of triacylglycerol molecules to form the core of a lipid droplet (nucleation) in the endoplasmic reticulum and drive budding of lipid droplets into the cytoplasm. BSCL2 and LDAF1 also regulate protein and lipid delivery from the endoplasmic reticulum into growing lipid droplets. During early adipogenesis, BSCL2 inhibits GPAT3 and GPAT4 activity, thereby preventing phosphatidic acid accumulation that could antagonize PPARG and block differentiation (By similarity). This inhibition is then relieved by ADIG during adipocyte maturation, allowing expansion of lipid droplets (By similarity). Regulates the maturation of ZFYVE1-positive nascent lipid droplets and the function of the RAB18-ZFYVE1 complex in mediating the formation of endoplasmic reticulum-lipid droplet contacts. Binds anionic phospholipids including phosphatidic acidExternal recordsHGNC:15832OMIM 606158gnomADUniProt Q96G97ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_001122955.4
All stored identifiershgnc_idHGNC:15832 ensembl_gene_idENSG00000168000 coords_grch38chr11:62689289-62709861 coords_grch37chr11:62457747-62477317 entrez_id26580 omim_gene606158 uniprot_idsQ96G97 refseq_accessionNM_032667 mane_refseqNM_001122955.4 mane_ensemblENST00000360796.10 |
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| C19ORF12 | chromosome 19 open reading frame 12 | 19q12 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Adipocyte protein localized at lipid droplet-mitochondria contact sites that governs lipid storage through regulation of mitochondrial fatty acid metabolism Source: UniProt
External recordsHGNC:25443OMIM 614297gnomADUniProt Q9NSK7ClinVar P/LPOrphanetMANE NM_031448.6GENESIS discovery
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All stored identifiershgnc_idHGNC:25443 ensembl_gene_idENSG00000131943 coords_grch38chr19:29691270-29716060 coords_grch37chr19:30191721-30206364 entrez_id83636 omim_gene614297 uniprot_idsQ9NSK7 refseq_accessionNM_031448 mane_refseqNM_031448.6 mane_ensemblENST00000323670.14 |
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| CADM3 | cell adhesion molecule 3 | 1q23.2 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Involved in cell-cell adhesion.
Has both calcium-independent homophilic cell-cell adhesion activity and calcium-independent heterophilic cell-cell adhesion activity with IGSF4, NECTIN1 and NECTIN3. Interaction with EPB41L1 may regulate structure or function of cell-cell junctions (By similarity)External recordsHGNC:17601OMIM 609743gnomADUniProt Q8N126ClinGenClinVar P/LPMANE NM_001127173.3GENESIS discovery
All stored identifiershgnc_idHGNC:17601 ensembl_gene_idENSG00000162706 coords_grch38chr1:159171574-159203313 coords_grch37chr1:159141399-159173103 entrez_id57863 omim_gene609743 uniprot_idsQ8N126 refseq_accessionNM_021189 mane_refseqNM_001127173.3 mane_ensemblENST00000368125.9 |
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| CCT5 | chaperonin containing TCP1 subunit 5 | 5p15.2 | AR | 1 | HSN | |||||||||||||||||||||||||||||||
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Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis.
The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the ciliaEvidencePanelApp Red
All stored identifiershgnc_idHGNC:1618 ensembl_gene_idENSG00000150753 coords_grch38chr5:10249929-10266389 coords_grch37chr5:10250033-10266524 entrez_id22948 omim_gene610150 uniprot_idsP48643 refseq_accessionNM_001306153 mane_refseqNM_012073.5 mane_ensemblENST00000280326.9 |
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| CFAP276 | cilia and flagella associated protein 276 | 1p13.3 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.
May play an important role for the maintenance of myelin-axon integrity (By similarity). May affect intracellular Ca(2+) homeostasis
All stored identifiershgnc_idHGNC:32331 ensembl_gene_idENSG00000179902 coords_grch38chr1:109105951-109113857 coords_grch37not applicable entrez_id127003 omim_gene618682 uniprot_idsQ5T5A4 refseq_accessionNM_001122961 mane_refseqNM_001245025.3 mane_ensemblENST00000369948.8 |
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| CHCHD10 | coiled-coil-helix-coiled-coil-helix domain containing 10 | 22q11.23 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure Source: UniProt
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All stored identifiershgnc_idHGNC:15559 ensembl_gene_idENSG00000250479 coords_grch38chr22:23765834-23767982 coords_grch37chr22:24108021-24110630 entrez_id400916 omim_gene615903 uniprot_idsQ8WYQ3 refseq_accessionNM_213720 mane_refseqNM_213720.3 mane_ensemblENST00000484558.3 |
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| CLTCL1 | clathrin heavy chain like 1 | 22q11.21 | — | — | Candidate | |||||||||||||||||||||||||||||||
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Clathrin is the major protein of the polyhedral coat of coated pits and vesicles.
Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network (By similarity)EvidencePanelApp Red
All stored identifiershgnc_idHGNC:2093 ensembl_gene_idENSG00000070371 coords_grch38chr22:19179319-19291774 coords_grch37chr22:19166986-19279239 entrez_id8218 omim_gene601273 uniprot_idsP53675 refseq_accessionNM_007098 mane_refseqNM_007098.4 mane_ensemblENST00000427926.6 |
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| ins(X;8)(q27.1;q24.3) | 78 kb Interchromosomal Insertion at Xq27.1 | Xq27.1 | XLR | 1 | CMTX | |||||||||||||||||||||||||||||||
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Counted here as a gene although its cause is a structural insertion rather than a coding gene. Named by ISCN notation, it has no HGNC record, so gene-level external identifiers do not apply. EIC treats the identified causative element as its gene for this view.
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| CNTNAP1 | contactin associated protein 1 | 17q21.2 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons.
Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cellsExternal recordsHGNC:8011OMIM 602346gnomADUniProt P78357ClinVar P/LPOrphanetMANE NM_003632.3GENESIS discovery
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All stored identifiershgnc_idHGNC:8011 ensembl_gene_idENSG00000108797 coords_grch38chr17:42682368-42699993 coords_grch37chr17:40834631-40851832 entrez_id8506 omim_gene602346 uniprot_idsP78357 refseq_accessionNM_003632 mane_refseqNM_003632.3 mane_ensemblENST00000264638.9 |
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| COA3 | cytochrome c oxidase assembly factor 3 | 17q21.2 | — | — | Candidate | |||||||||||||||||||||||||||||||
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Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.
MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly
All stored identifiershgnc_idHGNC:24990 ensembl_gene_idENSG00000183978 coords_grch38chr17:42793154-42798719 coords_grch37chr17:40947165-40950722 entrez_id28958 omim_gene614775 uniprot_idsQ9Y2R0 refseq_accessionNM_014019 mane_refseqNM_001040431.3 mane_ensemblENST00000328434.8 |
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| COA7 | cytochrome c oxidase assembly factor 7 | 1p32.3 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Required for assembly of mitochondrial respiratory chain complex I and complex IV Source: UniProt
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All stored identifiershgnc_idHGNC:25716 ensembl_gene_idENSG00000162377 coords_grch38chr1:52662885-52698369 coords_grch37not applicable entrez_id65260 omim_gene615623 uniprot_idsQ96BR5 refseq_accessionNM_023077 mane_refseqNM_023077.3 mane_ensemblENST00000371538.5 |
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| COL6A5 | collagen type VI alpha 5 chain | 3q22.1 | — | — | Candidate | |||||||||||||||||||||||||||||||
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Collagen VI acts as a cell-binding protein Source: UniProt
All stored identifiershgnc_idHGNC:26674 ensembl_gene_idENSG00000172752 coords_grch38chr3:130345516-130484846 coords_grch37chr3:130064359-130203688 entrez_id256076 omim_gene611916 uniprot_idsA8TX70 refseq_accessionNM_153264 mane_refseqNM_001278298.2 mane_ensemblENST00000373157.9 |
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| COQ7 | coenzyme Q7, hydroxylase | 16p12.3 | AR | 1 | dHMN/HMN | |||||||||||||||||||||||||||||||
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Catalyzes the hydroxylation of the 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone at the C6 position and participates in the biosynthesis of ubiquinone (Probable).
Catalyzes the reaction through a substrate-mediated reduction pathway, whereby NADH shuttles electrons to 5-methoxy-2-methyl-3-(all-trans-decaprenyl)benzoquinone, which then transfers the electrons to the two Fe(3+) centers. The binding of 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone (DMQn) mediates reduction of the diiron center by nicotinamide adenine dinucleotide (NADH) and initiates oxygen activation for subsequent DMQ hydroxylation. The physiological substrates are 5-methoxy-2-methyl-3-(all-trans-nonaprenyl)benzoquinone (DMQ(9)) and 5-methoxy-2-methyl-3-(all-trans-decaprenyl)benzoquinone (DMQ(10)), however in vitro the enzyme does not have any specificity concerning the length of the polyprenyl tail, and accepts tails of various lengths with similar efficiency. Also has a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner (By similarity). Plays a role in modulating mitochondrial stress responses, acting in the nucleus, perhaps via regulating gene expression, independent of its characterized mitochondrial function in ubiquinone biosynthesis
All stored identifiershgnc_idHGNC:2244 ensembl_gene_idENSG00000167186 coords_grch38chr16:19067564-19082190 coords_grch37chr16:19078921-19091417 entrez_id10229 omim_gene601683 uniprot_idsQ99807 refseq_accessionNM_016138 mane_refseqNM_016138.5 mane_ensemblENST00000321998.10 |
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| COX6A1 | cytochrome c oxidase subunit 6A1 | 12q24.31 | AR | 1 | CMTRI | |||||||||||||||||||||||||||||||
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Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation.
The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules unsing 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrixEvidencePanelApp Green
All stored identifiershgnc_idHGNC:2277 ensembl_gene_idENSG00000111775 coords_grch38chr12:120438090-120440742 coords_grch37chr12:120875893-120878545 entrez_id1337 omim_gene602072 uniprot_idsP12074 refseq_accessionNM_004373 mane_refseqNM_004373.4 mane_ensemblENST00000229379.3 |
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| CRYAB | crystallin alpha B | 11q23.1 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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May contribute to the transparency and refractive index of the lens.
Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. In lens epithelial cells, stabilizes the ATP6V1A protein, preventing its degradation by the proteasome (By similarity)EvidencePanelApp Red
All stored identifiershgnc_idHGNC:2389 ensembl_gene_idENSG00000109846 coords_grch38chr11:111908239-111923722 coords_grch37chr11:111779289-111794446 entrez_id1410 omim_gene123590 uniprot_idsP02511 refseq_accessionNM_001289807 mane_refseqNM_001289808.2 mane_ensemblENST00000650687.2 |
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| CTDP1 | CTD phosphatase 1 | 18q23 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit.
This promotes the activity of RNA polymerase II. Plays a role in the exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for M-phase-promoting factor (MPF)/CDK1 inactivationExternal recordsHGNC:2498OMIM 604927gnomADUniProt Q9Y5B0ClinVar P/LPGeneReviewsOrphanetMANE NM_004715.5
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All stored identifiershgnc_idHGNC:2498 ensembl_gene_idENSG00000060069 coords_grch38chr18:79679781-79756608 coords_grch37chr18:77439801-77514510 entrez_id9150 omim_gene604927 uniprot_idsQ9Y5B0 refseq_accessionNM_004715 mane_refseqNM_004715.5 mane_ensemblENST00000613122.5 |
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| DARS2 | aspartyl-tRNA synthetase 2, mitochondrial | 1q25.1 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Catalyzes the attachment of aspartate to tRNA(Asp) in a two-step reaction: aspartate is first activated by ATP to form Asp-AMP and then transferred to the acceptor end of tRNA(Asp) Source: UniProt
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All stored identifiershgnc_idHGNC:25538 ensembl_gene_idENSG00000117593 coords_grch38chr1:173824540-173858808 coords_grch37chr1:173793641-173827684 entrez_id55157 omim_gene610956 uniprot_idsQ6PI48 refseq_accessionNM_018122 mane_refseqNM_018122.5 mane_ensemblENST00000649689.2 |
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| DCAF8 | DDB1 and CUL4 associated factor 8 | 1q23.2 | AD | 1 | GAN | |||||||||||||||||||||||||||||||
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May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex Source: UniProt
EvidencePanelApp Red
All stored identifiershgnc_idHGNC:24891 ensembl_gene_idENSG00000132716 coords_grch38chr1:160214840-160263388 coords_grch37chr1:160185505-160254920 entrez_id50717 omim_gene615820 uniprot_idsQ5TAQ9 refseq_accessionNM_015726 mane_refseqNM_015726.4 mane_ensemblENST00000368074.6 |
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| DCTN1 | dynactin subunit 1 | 2p13.1 | AD | 1 | dHMN/HMN | |||||||||||||||||||||||||||||||
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Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules (By similarity).
Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by recruiting and tethering dynein to microtubules. Binds to both dynein and microtubules providing a link between specific cargos, microtubules and dynein. Essential for targeting dynein to microtubule plus ends, recruiting dynein to membranous cargos and enhancing dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Can also act as a brake to slow the dynein motor during motility along the microtubule. Can regulate microtubule stability by promoting microtubule formation, nucleation and polymerization and by inhibiting microtubule catastrophe in neurons. Inhibits microtubule catastrophe by binding both to microtubules and to tubulin, leading to enhanced microtubule stability along the axon. Plays a role in metaphase spindle orientation. Plays a role in centriole cohesion and subdistal appendage organization and function. Its recruitment to the centriole in a KIF3A-dependent manner is essential for the maintenance of centriole cohesion and the formation of subdistal appendage. Also required for microtubule anchoring at the mother centriole. Plays a role in primary cilia formationEvidencePanelApp Green
All stored identifiershgnc_idHGNC:2711 ensembl_gene_idENSG00000204843 coords_grch38chr2:74361154-74392087 coords_grch37chr2:74588281-74619214 entrez_id1639 omim_gene601143 uniprot_idsQ14203 refseq_accessionNM_004082 mane_refseqNM_004082.5 mane_ensemblENST00000628224.3 |
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| DGAT2 | diacylglycerol O-acyltransferase 2 | 11q13.5 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates.
Required for synthesis and storage of intracellular triglycerides. Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides (By similarity). Also functions as an acyl-CoA retinol acyltransferase (ARAT) (By similarity). Also able to use 1-monoalkylglycerol (1-MAkG) as an acyl acceptor for the synthesis of monoalkyl-monoacylglycerol (MAMAG)
All stored identifiershgnc_idHGNC:16940 ensembl_gene_idENSG00000062282 coords_grch38chr11:75759512-75813865 coords_grch37chr11:75470557-75512579 entrez_id84649 omim_gene606983 uniprot_idsQ96PD7 refseq_accessionNM_032564 mane_refseqNM_032564.5 mane_ensemblENST00000228027.12 |
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| DHTKD1 | dehydrogenase E1 and transketolase domain containing 1 | 10p14 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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2-oxoadipate dehydrogenase (E1a) component of the 2-oxoadipate dehydrogenase complex (OADHC).
Participates in the first step, rate limiting for the overall conversion of 2-oxoadipate (alpha-ketoadipate) to glutaryl-CoA and CO(2) catalyzed by the whole OADHC. Catalyzes the irreversible decarboxylation of 2-oxoadipate via the thiamine diphosphate (ThDP) cofactor and subsequent transfer of the decarboxylated acyl intermediate on an oxidized dihydrolipoyl group that is covalently amidated to the E2 enzyme (dihydrolipoyllysine-residue succinyltransferase or DLST) (Probable). Can catalyze the decarboxylation of 2-oxoglutarate in vitro, but at a much lower rate than 2-oxoadipate. Responsible for the last step of L-lysine, L-hydroxylysine and L-tryptophan catabolism with the common product being 2-oxoadipate (Probable)EvidencePanelApp Green
All stored identifiershgnc_idHGNC:23537 ensembl_gene_idENSG00000181192 coords_grch38chr10:12068926-12125946 coords_grch37chr10:12110971-12165224 entrez_id55526 omim_gene614984 uniprot_idsQ96HY7 refseq_accessionNM_018706 mane_refseqNM_018706.7 mane_ensemblENST00000263035.9 |
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| DHX9 | DExH-box helicase 9 | 1q25.3 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Multifunctional ATP-dependent nucleic acid helicase that unwinds DNA and RNA in a 3' to 5' direction and that plays important roles in many processes, such as DNA replication, transcriptional activation, post-transcriptional RNA regulation, mRNA translation and RNA-mediated gene silencing.
Requires a 3'-single-stranded tail as entry site for acid nuclei unwinding activities as well as the binding and hydrolyzing of any of the four ribo- or deoxyribo-nucleotide triphosphates (NTPs). Unwinds numerous nucleic acid substrates such as double-stranded (ds) DNA and RNA, DNA:RNA hybrids, DNA and RNA forks composed of either partially complementary DNA duplexes or DNA:RNA hybrids, respectively, and also DNA and RNA displacement loops (D- and R-loops), triplex-helical DNA (H-DNA) structure and DNA and RNA-based G-quadruplexes. Binds dsDNA, single-stranded DNA (ssDNA), dsRNA, ssRNA and poly(A)-containing RNA. Also binds to circular dsDNA or dsRNA of either linear and/or circular forms and stimulates the relaxation of supercoiled DNAs catalyzed by topoisomerase TOP2A. Plays a role in DNA replication at origins of replication and cell cycle progression. Plays a role as a transcriptional coactivator acting as a bridging factor between polymerase II holoenzyme and transcription factors or cofactors, such as BRCA1, CREBBP, RELA and SMN1. Binds to the CDKN2A promoter. Plays several roles in post-transcriptional regulation of gene expression. In cooperation with NUP98, promotes pre-mRNA alternative splicing activities of a subset of genes. As component of a large PER complex, is involved in the negative regulation of 3' transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms (By similarity). Also acts as a nuclear resolvase that is able to bind and neutralize harmful massive secondary double-stranded RNA structures formed by inverted-repeat Alu retrotransposon elements that are inserted and transcribed as parts of genes during the process of gene transposition. Involved in the positive regulation of nuclear export of constitutive transport element (CTE)-containing unspliced mRNA. Component of the coding region determinant (CRD)-mediated complex that promotes cytoplasmic MYC mRNA stability. Plays a role in mRNA translation. Positively regulates translation of selected mRNAs through its binding to post-transcriptional control element (PCE) in the 5'-untranslated region (UTR). Involved with LARP6 in the translation stimulation of type I collagen mRNAs for CO1A1 and CO1A2 through binding of a specific stem-loop structure in their 5'-UTRs. Stimulates LIN28A-dependent mRNA translation probably by facilitating ribonucleoprotein remodeling during the process of translation. Plays also a role as a small interfering (siRNA)-loading factor involved in the RNA-induced silencing complex (RISC) loading complex (RLC) assembly, and hence functions in the RISC-mediated gene silencing process. Binds preferentially to short double-stranded RNA, such as those produced during rotavirus intestinal infection. This interaction may mediate NLRP9 inflammasome activation and trigger inflammatory response, including IL18 release and pyroptosis. Finally, mediates the attachment of heterogeneous nuclear ribonucleoproteins (hnRNPs) to actin filaments in the nucleusEvidencePanelApp Green
All stored identifiershgnc_idHGNC:2750 ensembl_gene_idENSG00000135829 coords_grch38chr1:182839302-182888120 coords_grch37chr1:182808504-182856886 entrez_id1660 omim_gene603115 uniprot_idsQ08211 refseq_accessionNM_030588 mane_refseqNM_001357.5 mane_ensemblENST00000367549.4 |
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| DNAJB2 | DnaJ heat shock protein family (Hsp40) member B2 | 2q35 | AR | 1 | dSMA | |||||||||||||||||||||||||||||||
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Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family.
In parallel, also contributes to the ubiquitin-dependent proteasomal degradation of misfolded proteins. Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes. Isoform 1 which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein degradation of misfolded proteinsEvidenceClinGen Definitive neuronopathy, distal hereditary motor, autosomal recessive 5PanelApp Green
All stored identifiershgnc_idHGNC:5228 ensembl_gene_idENSG00000135924 coords_grch38chr2:219279308-219286900 coords_grch37chr2:220143989-220151622 entrez_id3300 omim_gene604139 uniprot_idsP25686 refseq_accessionNM_001039550 mane_refseqNM_006736.6 mane_ensemblENST00000336576.10 |
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| DNM2 | dynamin 2 | 19p13.2 | AD | 2 | CMT2CMTDI | |||||||||||||||||||||||||||||||
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Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission at plasma membrane during endocytosis and filament remodeling at many actin structures during organization of the actin cytoskeleton.
Plays an important role in vesicular trafficking processes, namely clathrin-mediated endocytosis (CME), exocytic and clathrin-coated vesicle from the trans-Golgi network, and PDGF stimulated macropinocytosis. During vesicular trafficking process, associates to the membrane, through lipid binding, and self-assembles into ring-like structure through oligomerization to form a helical polymer around the vesicle membrane and leading to vesicle scission. Plays a role in organization of the actin cytoskeleton by mediating arrangement of stress fibers and actin bundles in podocytes (By similarity). During organization of the actin cytoskeleton, self-assembles into ring-like structure that directly bundles actin filaments to form typical membrane tubules decorated with dynamin spiral polymers (By similarity). Self-assembly increases GTPase activity and the GTP hydrolysis causes the rapid depolymerization of dynamin spiral polymers, and results in dispersion of actin bundles (By similarity). Remodels, through its interaction with CTTN, bundled actin filaments in a GTPase-dependent manner and plays a role in orchestrating the global actomyosin cytoskeleton. The interaction with CTTN stabilizes the interaction of DNM2 and actin filaments and stimulates the intrinsic GTPase activity that results in actin filament-barbed ends and increases the sensitivity of filaments in bundles to the actin depolymerizing factor, CFL1 (By similarity). Plays a role in the autophagy process, by participating in the formation of ATG9A vesicles destined for the autophagosomes through its interaction with SNX18, by mediating recycling endosome scission leading to autophagosome release through MAP1LC3B interaction. Also regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity). Also plays a role in cytokinesis (By similarity). May participate in centrosome cohesion through its interaction with TUBG1 (By similarity). Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Involved in membrane tubulationExternal recordsHGNC:2974OMIM 602378gnomADUniProt P50570ClinGenClinVar P/LPOrphanetMANE NM_001005361.3
All stored identifiershgnc_idHGNC:2974 ensembl_gene_idENSG00000079805 coords_grch38chr19:10717967-10834209 coords_grch37chr19:10828755-10944164 entrez_id1785 omim_gene602378 uniprot_idsP50570 refseq_accessionNM_004945 mane_refseqNM_001005361.3 mane_ensemblENST00000389253.9 |
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| DNMT1 | DNA methyltransferase 1 | 19p13.2 | AD | 1 | HSN | |||||||||||||||||||||||||||||||
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DNA methyltransferase that methylates CpG residues.
Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication. It is responsible for maintaining methylation patterns established in development. DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct binding to HDAC2. In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells. Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencingExternal recordsHGNC:2976OMIM 126375gnomADUniProt P26358ClinVar P/LPGeneReviewsOrphanetMANE NM_001130823.3
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All stored identifiershgnc_idHGNC:2976 ensembl_gene_idENSG00000130816 coords_grch38chr19:10133342-10231286 coords_grch37chr19:10244021-10341962 entrez_id1786 omim_gene126375 uniprot_idsP26358 refseq_accessionNM_001379 mane_refseqNM_001130823.3 mane_ensemblENST00000359526.9 |
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| DRP2 | dystrophin related protein 2 | Xq22.1 | XLD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells.
Required for normal PRX location at appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Possibly involved in membrane-cytoskeleton interactions of the central nervous systemExternal recordsHGNC:3032OMIM 300052gnomADUniProt Q13474ClinVar P/LPMANE NM_001939.3GENESIS discovery
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All stored identifiershgnc_idHGNC:3032 ensembl_gene_idENSG00000102385 coords_grch38chrX:101219723-101264502 coords_grch37chrX:100474758-100519486 entrez_id1821 omim_gene300052 uniprot_idsQ13474 refseq_accessionNM_001939 mane_refseqNM_001939.3 mane_ensemblENST00000395209.8 |
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| DST | dystonin | 6p12.1 | AR | 2 | HSANUnclassified | |||||||||||||||||||||||||||||||
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Cytoskeletal linker protein.
Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity)External recordsHGNC:1090OMIM 113810gnomADUniProt Q03001ClinGenClinVar P/LPOrphanetMANE NM_001374736.1GENESIS discovery
All stored identifiershgnc_idHGNC:1090 ensembl_gene_idENSG00000151914 coords_grch38chr6:56457981-56955274 coords_grch37chr6:56322785-56819426 entrez_id667 omim_gene113810 uniprot_idsQ03001 refseq_accessionNM_001723 mane_refseqNM_001374736.1 mane_ensemblENST00000680361.1 |
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| DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | 14q32.31 | AD | 2 | CMT2SMA-LEP | |||||||||||||||||||||||||||||||
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Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules.
Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mitotic spindle assembly and metaphase plate congression
All stored identifiershgnc_idHGNC:2961 ensembl_gene_idENSG00000197102 coords_grch38chr14:101964519-102056443 coords_grch37chr14:102430865-102517129 entrez_id1778 omim_gene600112 uniprot_idsQ14204 refseq_accessionNM_001376 mane_refseqNM_001376.5 mane_ensemblENST00000360184.10 |
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| EGR2 | early growth response 2 | 10q21.3 | AD, AR | 2 | CMT1CMT4 | |||||||||||||||||||||||||||||||
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Sequence-specific DNA-binding transcription factor.
Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of genes involved in the formation and maintenance of myelin (By similarity). Binds to two EGR2-consensus sites EGR2A (5'-CTGTAGGAG-3') and EGR2B (5'-ATGTAGGTG-3') in the HOXB3 enhancer and promotes HOXB3 transcriptional activation (By similarity). Binds to specific DNA sites located in the promoter region of HOXA4, HOXB2 and ERBB2 (By similarity). Regulates hindbrain segmentation by controlling the expression of Hox genes, such as HOXA4, HOXB3 and HOXB2, and thereby specifying odd and even rhombomeres (By similarity). Promotes the expression of HOXB3 in the rhombomere r5 in the hindbrain (By similarity). Regulates myelination in the peripheral nervous system after birth, possibly by regulating the expression of myelin proteins, such as MPZ, and by promoting the differentiation of Schwann cells (By similarity). Involved in the development of the jaw openener musculature, probably by playing a role in its innervation through trigeminal motor neurons (By similarity). May play a role in adipogenesis, possibly by regulating the expression of CEBPB (By similarity)
All stored identifiershgnc_idHGNC:3239 ensembl_gene_idENSG00000122877 coords_grch38chr10:62811996-62819167 coords_grch37chr10:64571756-64679660 entrez_id1959 omim_gene129010 uniprot_idsP11161 refseq_accessionNM_000399 mane_refseqNM_000399.5 mane_ensemblENST00000242480.4 |
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| ELP1 | elongator acetyltransferase complex subunit 1 | 9q31.3 | AR | 1 | HSAN | |||||||||||||||||||||||||||||||
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Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine).
The elongator complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs. Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity). ELP1 binds to tRNA, mediating interaction of the elongator complex with tRNA (By similarity). May act as a scaffold protein that assembles active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK)External recordsHGNC:5959OMIM 603722gnomADUniProt O95163ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_003640.5
All stored identifiershgnc_idHGNC:5959 ensembl_gene_idENSG00000070061 coords_grch38chr9:108866898-108934414 coords_grch37not applicable entrez_id8518 omim_gene603722 uniprot_idsO95163 refseq_accessionNM_001318360 mane_refseqNM_003640.5 mane_ensemblENST00000374647.10 |
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| FAM169A | family with sequence similarity 169 member A | 5q13.3 | — | — | Candidate | |||||||||||||||||||||||||||||||
All stored identifiershgnc_idHGNC:29138 ensembl_gene_idENSG00000198780 coords_grch38chr5:74777573-74867022 coords_grch37chr5:74073399-74162776 entrez_id26049 omim_gene615769 uniprot_idsQ9Y6X4 refseq_accessionNM_001376049 mane_refseqNM_001376049.1 mane_ensemblENST00000687041.1 |
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| FBLN5 | fibulin 5 | 14q32.12 | AD | 1 | CMT1 | |||||||||||||||||||||||||||||||
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Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN.
Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling. May act as an adapter that mediates the interaction between FBN1 and ELNExternal recordsHGNC:3602OMIM 604580gnomADUniProt Q9UBX5ClinGenClinVar P/LPOrphanetMANE NM_006329.4GENESIS discovery
All stored identifiershgnc_idHGNC:3602 ensembl_gene_idENSG00000140092 coords_grch38chr14:91869410-91948064 coords_grch37chr14:92335756-92414331 entrez_id10516 omim_gene604580 uniprot_idsQ9UBX5 refseq_accessionNM_001384158 mane_refseqNM_006329.4 mane_ensemblENST00000342058.9 |
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| FBXO38 | F-box protein 38 | 5q32 | AD | 1 | dHMN/HMN | |||||||||||||||||||||||||||||||
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Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of PDCD1/PD-1, thereby regulating T-cells-mediated immunity.
Required for anti-tumor activity of T-cells by promoting the degradation of PDCD1/PD-1; the PDCD1-mediated inhibitory pathway being exploited by tumors to attenuate anti-tumor immunity and facilitate tumor survival. May indirectly stimulate the activity of transcription factor KLF7, a regulator of neuronal differentiation, without promoting KLF7 ubiquitination (By similarity)External recordsHGNC:28844OMIM 608533gnomADUniProt Q6PIJ6ClinGenClinVar P/LPOrphanetMANE NM_205836.3GENESIS discovery
All stored identifiershgnc_idHGNC:28844 ensembl_gene_idENSG00000145868 coords_grch38chr5:148383826-148442850 coords_grch37chr5:147763498-147822399 entrez_id81545 omim_gene608533 uniprot_idsQ6PIJ6 refseq_accessionNM_030793 mane_refseqNM_205836.3 mane_ensemblENST00000340253.10 |
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| FGD4 | FYVE, RhoGEF and PH domain containing 4 | 12p11.21 | AR | 1 | CMT4 | |||||||||||||||||||||||||||||||
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Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP.
Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity)External recordsHGNC:19125OMIM 611104gnomADUniProt Q96M96ClinGenClinVar P/LPOrphanetMANE NM_001370298.3
All stored identifiershgnc_idHGNC:19125 ensembl_gene_idENSG00000139132 coords_grch38chr12:32399318-32646050 coords_grch37chr12:32552463-32798984 entrez_id121512 omim_gene611104 uniprot_idsQ96M96 refseq_accessionNM_139241 mane_refseqNM_001370298.3 mane_ensemblENST00000534526.7 |
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| FIG4 | FIG4 phosphoinositide 5-phosphatase | 6q21 | AR | 1 | CMT4 | |||||||||||||||||||||||||||||||
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Dual specificity phosphatase component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).
Catalyzes the dephosphorylation of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) to form phosphatidylinositol 3-phosphate. Has serine-protein phosphatase activity acting on PIKfyve to stimulate its lipid kinase activity, its catalytically activity being required for maximal PI(3,5)P2 production. In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide and although displaying preferences for PtdIns(3,5)P2, it is capable of hydrolyzing PtdIns(3,4,5)P3 and PtdIns(4,5)P2, at least in vitroExternal recordsHGNC:16873OMIM 609390gnomADUniProt Q92562ClinGenClinVar P/LPOrphanetMANE NM_014845.6
All stored identifiershgnc_idHGNC:16873 ensembl_gene_idENSG00000112367 coords_grch38chr6:109690609-109878098 coords_grch37chr6:110012499-110146631 entrez_id9896 omim_gene609390 uniprot_idsQ92562 refseq_accessionNM_014845 mane_refseqNM_014845.6 mane_ensemblENST00000230124.8 |
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| FLVCR1 | FLVCR choline and heme transporter 1 | 1q32.3 | AR | 1 | HSN | |||||||||||||||||||||||||||||||
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Uniporter that mediates the transport of extracellular choline and ethanolamine into cells, thereby playing a key role in phospholipid biosynthesis.
Choline and ethanolamine are the precursors of phosphatidylcholine and phosphatidylethanolamine, respectively, the two most abundant phospholipids. Transport is not coupled with proton transport and is exclusively driven by the choline (or ethanolamine) gradient across the plasma membrane. Also acts as a heme b transporter that mediates heme efflux from the cytoplasm to the extracellular compartmentEvidencePanelApp Green
All stored identifiershgnc_idHGNC:24682 ensembl_gene_idENSG00000162769 coords_grch38chr1:212858230-212899363 coords_grch37chr1:213031597-213072705 entrez_id28982 omim_gene609144 uniprot_idsQ9Y5Y0 refseq_accessionNM_014053 mane_refseqNM_014053.4 mane_ensemblENST00000366971.9 |
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| FXN | frataxin | 9q21.11 | — | — | Candidate | |||||||||||||||||||||||||||||||
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Functions as an activator of persulfide transfer to the scaffoding protein ISCU as component of the core iron-sulfur cluster (ISC) assembly complex and participates to the [2Fe-2S] cluster assembly.
Accelerates sulfur transfer from NFS1 persulfide intermediate to ISCU and to small thiols such as L-cysteine and glutathione leading to persulfuration of these thiols and ultimately sulfide release. Binds ferrous ion and is released from FXN upon the addition of both L-cysteine and reduced FDX2 during [2Fe-2S] cluster assembly. The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5 (By similarity). May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. May function as an iron chaperone protein that protects the aconitase [4Fe-4S]2+ cluster from disassembly and promotes enzyme reactivation. May play a role as a high affinity iron binding partner for FECH that is capable of both delivering iron to ferrochelatase and mediating the terminal step in mitochondrial heme biosynthesisEvidencePanelApp Green
All stored identifiershgnc_idHGNC:3951 ensembl_gene_idENSG00000165060 coords_grch38chr9:69035730-69079076 coords_grch37chr9:71650175-71715094 entrez_id2395 omim_gene606829 uniprot_idsQ16595 refseq_accessionNM_000144 mane_refseqNM_000144.5 mane_ensemblENST00000484259.3 |
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| GAN | gigaxonin | 16q23.2 | AR | 1 | GAN | |||||||||||||||||||||||||||||||
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Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture.
May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survivalExternal recordsHGNC:4137OMIM 605379gnomADUniProt Q9H2C0ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_022041.4
All stored identifiershgnc_idHGNC:4137 ensembl_gene_idENSG00000261609 coords_grch38chr16:81314932-81390884 coords_grch37chr16:81348557-81424489 entrez_id8139 omim_gene605379 uniprot_idsQ9H2C0 refseq_accessionNM_001377486 mane_refseqNM_022041.4 mane_ensemblENST00000648994.2 |
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| GARS1 | glycyl-tRNA synthetase 1 | 7p14.3 | AD | 2 | CMT2dHMN/HMN | |||||||||||||||||||||||||||||||
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Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP).
Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasisExternal recordsHGNC:4162OMIM 600287gnomADUniProt P41250ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_002047.4
All stored identifiershgnc_idHGNC:4162 ensembl_gene_idENSG00000106105 coords_grch38chr7:30580533-30634033 coords_grch37chr7:30634297-30673649 entrez_id2617 omim_gene600287 uniprot_idsP41250 refseq_accessionNM_002047 mane_refseqNM_002047.4 mane_ensemblENST00000389266.8 |
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| GBF1 | golgi brefeldin A resistant guanine nucleotide exchange factor 1 | 10q24.32 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Guanine-nucleotide exchange factor (GEF) for members of the Arf family of small GTPases involved in trafficking in the early secretory pathway; its GEF activity initiates the coating of nascent vesicles via the localized generation of activated ARFs through replacement of GDP with GTP.
Recruitment to cis-Golgi membranes requires membrane association of Arf-GDP and can be regulated by ARF1, ARF3, ARF4 and ARF5. Involved in the recruitment of the COPI coat complex to the endoplasmic reticulum exit sites (ERES), and the endoplasmic reticulum-Golgi intermediate (ERGIC) and cis-Golgi compartments which implicates ARF1 activation. Involved in COPI vesicle-dependent retrograde transport from the ERGIC and cis-Golgi compartments to the endoplasmic reticulum (ER). Involved in the trans-Golgi network recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1 adaptor protein complex related to chlathrin-dependent transport; the function requires its GEF activity (probably at least in part on ARF4 and ARF5). Has GEF activity towards ARF1. Has in vitro GEF activity towards ARF5 (By similarity). Involved in the processing of PSAP. Required for the assembly of the Golgi apparatus. The AMPK-phosphorylated form is involved in Golgi disassembly during mitotis and under stress conditions. May be involved in the COPI vesicle-dependent recruitment of PNPLA2 to lipid droplets; however, this function is under debate. In neutrophils, involved in G protein-coupled receptor (GPCR)-mediated chemotaxis und superoxide production. Proposed to be recruited by phosphatidylinositol-phosphates generated upon GPCR stimulation to the leading edge where it recruits and activates ARF1, and is involved in recruitment of GIT2 and the NADPH oxidase complex. Plays a role in maintaining mitochondrial morphologyExternal recordsHGNC:4181OMIM 603698gnomADUniProt Q92538ClinVar P/LPMANE NM_001377137.1GENESIS discovery
EvidencePanelApp Green
All stored identifiershgnc_idHGNC:4181 ensembl_gene_idENSG00000107862 coords_grch38chr10:102245371-102382899 coords_grch37chr10:104005289-104142656 entrez_id8729 omim_gene603698 uniprot_idsQ92538 refseq_accessionNM_001199378 mane_refseqNM_001377137.1 mane_ensemblENST00000369983.5 |
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| GDAP1 | ganglioside induced differentiation associated protein 1 | 8q21.11 | AD, AR | 4 | CMT2CMT4CMTRI | |||||||||||||||||||||||||||||||
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Regulates the mitochondrial network by promoting mitochondrial fission Source: UniProt
External recordsHGNC:15968OMIM 606598gnomADUniProt Q8TB36ClinGenClinVar P/LPOrphanetMANE NM_018972.4
All stored identifiershgnc_idHGNC:15968 ensembl_gene_idENSG00000104381 coords_grch38chr8:74320613-74518007 coords_grch37chr8:75233365-75401107 entrez_id54332 omim_gene606598 uniprot_idsQ8TB36 refseq_accessionNM_018972 mane_refseqNM_018972.4 mane_ensemblENST00000220822.12 |
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| GJB1 | gap junction protein beta 1 | Xq13.1 | XLD | 1 | CMTX | |||||||||||||||||||||||||||||||
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One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell Source: UniProt
External recordsHGNC:4283OMIM 304040gnomADUniProt P08034ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_000166.6
All stored identifiershgnc_idHGNC:4283 ensembl_gene_idENSG00000169562 coords_grch38chrX:71212811-71225519 coords_grch37chrX:70435044-70445366 entrez_id2705 omim_gene304040 uniprot_idsP08034 refseq_accessionNM_000166 mane_refseqNM_000166.6 mane_ensemblENST00000361726.7 |
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| GLE1 | GLE1 RNA export mediator | 9q34.11 | — | — | Candidate | |||||||||||||||||||||||||||||||
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Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm.
May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC)EvidencePanelApp Red
All stored identifiershgnc_idHGNC:4315 ensembl_gene_idENSG00000119392 coords_grch38chr9:128504655-128543874 coords_grch37chr9:131266979-131304567 entrez_id2733 omim_gene603371 uniprot_idsQ53GS7 refseq_accessionNM_001003722 mane_refseqNM_001003722.2 mane_ensemblENST00000309971.9 |
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| GNB4 | G protein subunit beta 4 | 3q26.33 | AD | 1 | CMTDI | |||||||||||||||||||||||||||||||
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Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems.
The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interactionExternal recordsHGNC:20731OMIM 610863gnomADUniProt Q9HAV0ClinGenClinVar P/LPOrphanetMANE NM_021629.4
All stored identifiershgnc_idHGNC:20731 ensembl_gene_idENSG00000114450 coords_grch38chr3:179396088-179451647 coords_grch37chr3:179116990-179169378 entrez_id59345 omim_gene610863 uniprot_idsQ9HAV0 refseq_accessionNM_021629 mane_refseqNM_021629.4 mane_ensemblENST00000232564.8 |
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| HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | 2p23.3 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway.
The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through cycles of four consecutive reactions. Each beta-oxidation cycle shortens the fatty acyl-CoA by two carbons, yielding one acetyl-CoA (for the citric acid cycle), one FADH(2), and one NADH (which donate electrons to the respiratory chain for ATP production). These cycles repeat until the chain is fully degraded to acetyl-CoA units. Among the enzymes involved in this pathway, the trifunctional protein, responsible for the hydration, dehydrogenation, and thiolysis steps, shows specificity for long-chain fatty acids, such as those from dietary and stored fats. Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional enzyme subunit alpha/HADHA carries the 2,3-enoyl-CoA hydratase and the 3-hydroxyacyl-CoA dehydrogenase activities while the trifunctional enzyme subunit beta/HADHB described here bears the 3-ketoacyl-CoA thiolase activity. These activities have been experimentally confirmed on a few substrates derived from beta-oxidation of long-chain saturated fatty acids such as palmitate (hexadecanoate) and laurate (dodecanoate). In addition, based on its established catalytic mechanism, and combined genetic interaction or mutant phenotype evidence, it is predicted to act also on other substrates, including long-chain unsaturated fatty acids such as oleate (9Z-octadecenoate), linoleate (9Z,12Z-octadecadienoate), linolenate (9Z,12Z,15Z-octadecatrienoate), and others (Probable)EvidencePanelApp Green
All stored identifiershgnc_idHGNC:4803 ensembl_gene_idENSG00000138029 coords_grch38chr2:26243170-26290473 coords_grch37chr2:26466038-26513336 entrez_id3032 omim_gene143450 uniprot_idsP55084 refseq_accessionNM_000183 mane_refseqNM_000183.3 mane_ensemblENST00000317799.10 |
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| HARS1 | histidyl-tRNA synthetase 1 | 5q31.3 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP).
Plays a role in axon guidanceExternal recordsHGNC:4816OMIM 142810gnomADUniProt P12081ClinVar P/LPOrphanetMANE NM_002109.6GENESIS discovery
EvidencePanelApp Green
All stored identifiershgnc_idHGNC:4816 ensembl_gene_idENSG00000170445 coords_grch38chr5:140673035-140691537 coords_grch37chr5:140052758-140071609 entrez_id3035 omim_gene142810 uniprot_idsP12081 refseq_accessionNM_002109 mane_refseqNM_002109.6 mane_ensemblENST00000504156.7 |
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| HINT1 | histidine triad nucleotide binding protein 1 | 5q23.3 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2.
Hydrolyzes adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine 5'monophosphomorpholidate (GMP-morpholidate). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP (GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester. Hydrolyzes 3-indolepropionic acyl-adenylate, tryptamine adenosine phosphoramidate monoester and other fluorogenic purine nucleoside tryptamine phosphoramidates in vitro. Can also convert adenosine 5'-O-phosphorothioate and guanosine 5'-O-phosphorothioate to the corresponding nucleoside 5'-O-phosphates with concomitant release of hydrogen sulfide. In addition, functions as scaffolding protein that modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex and by the complex formed with MITF and CTNNB1. Modulates p53/TP53 levels and p53/TP53-mediated apoptosis. Modulates proteasomal degradation of target proteins by the SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex. Also exhibits SUMO-specific isopeptidase activity, deconjugating SUMO1 from RGS17. Deconjugates SUMO1 from RANGAP1 (By similarity)External recordsHGNC:4912OMIM 601314gnomADUniProt P49773ClinGenClinVar P/LPOrphanetMANE NM_005340.7GENESIS discovery
All stored identifiershgnc_idHGNC:4912 ensembl_gene_idENSG00000169567 coords_grch38chr5:131155383-131224468 coords_grch37chr5:130494720-130507428 entrez_id3094 omim_gene601314 uniprot_idsP49773 refseq_accessionNM_005340 mane_refseqNM_005340.7 mane_ensemblENST00000304043.10 |
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| HK1 | hexokinase 1 | 10q22.1 | AR | 1 | CMT4 | |||||||||||||||||||||||||||||||
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Catalyzes the phosphorylation of various hexoses, such as D-glucose, D-glucosamine, D-fructose, D-mannose and 2-deoxy-D-glucose, to hexose 6-phosphate (D-glucose 6-phosphate, D-glucosamine 6-phosphate, D-fructose 6-phosphate, D-mannose 6-phosphate and 2-deoxy-D-glucose 6-phosphate, respectively).
Does not phosphorylate N-acetyl-D-glucosamine. Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (By similarity). Involved in innate immunity and inflammation by acting as a pattern recognition receptor for bacterial peptidoglycan. When released in the cytosol, N-acetyl-D-glucosamine component of bacterial peptidoglycan inhibits the hexokinase activity of HK1 and causes its dissociation from mitochondrial outer membrane, thereby activating the NLRP3 inflammasomeEvidencePanelApp Green
All stored identifiershgnc_idHGNC:4922 ensembl_gene_idENSG00000156515 coords_grch38chr10:69269984-69403497 coords_grch37chr10:71029740-71161638 entrez_id3098 omim_gene142600 uniprot_idsP19367 refseq_accessionNM_000188 mane_refseqNM_000188.3 mane_ensemblENST00000359426.7 |
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| HSPB1 | heat shock protein family B (small) member 1 | 7q11.23 | AD | 2 | CMT2dHMN/HMN | |||||||||||||||||||||||||||||||
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Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state.
Plays a role in stress resistance and actin organization. Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins
All stored identifiershgnc_idHGNC:5246 ensembl_gene_idENSG00000106211 coords_grch38chr7:76302666-76305813 coords_grch37chr7:75931861-75933612 entrez_id3315 omim_gene602195 uniprot_idsP04792 refseq_accessionNM_001540 mane_refseqNM_001540.5 mane_ensemblENST00000248553.7 |
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| HSPB3 | heat shock protein family B (small) member 3 | 5q11.2 | AD | 1 | dHMN/HMN | |||||||||||||||||||||||||||||||
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Inhibitor of actin polymerization Source: UniProt
EvidencePanelApp Red
All stored identifiershgnc_idHGNC:5248 ensembl_gene_idENSG00000169271 coords_grch38chr5:54455699-54456377 coords_grch37chr5:53751445-53752207 entrez_id8988 omim_gene604624 uniprot_idsQ12988 refseq_accessionNM_006308 mane_refseqNM_006308.3 mane_ensemblENST00000302005.3 |
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| HSPB8 | heat shock protein family B (small) member 8 | 12q24.23 | AD | 2 | CMT2dHMN/HMN | |||||||||||||||||||||||||||||||
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Involved in the chaperone-assisted selective autophagy (CASA), a crucial process for protein quality control, particularly in mechanical strained cells and tissues such as muscle.
Displays temperature-dependent chaperone activityExternal recordsHGNC:30171OMIM 608014gnomADUniProt Q9UJY1ClinGenClinVar P/LPOrphanetMANE NM_014365.3
All stored identifiershgnc_idHGNC:30171 ensembl_gene_idENSG00000152137 coords_grch38chr12:119171555-119224855 coords_grch37chr12:119616447-119658936 entrez_id26353 omim_gene608014 uniprot_idsQ9UJY1 refseq_accessionNM_014365 mane_refseqNM_014365.3 mane_ensemblENST00000281938.7 |
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| IGHMBP2 | immunoglobulin mu DNA binding protein 2 | 11q13.3 | AR | 2 | CMT2dHMN/HMN | |||||||||||||||||||||||||||||||
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5' to 3' helicase that unwinds both RNA and DNA duplexes in an ATP-dependent reaction (Probable).
Specific to 5'-phosphorylated single-stranded guanine-rich sequences. May play a role in RNA metabolism, ribosome biogenesis or initiation of translation. May play a role in regulation of transcription (By similarity). Interacts with tRNA-Tyr. Has low processivityExternal recordsHGNC:5542OMIM 600502gnomADUniProt P38935ClinGenClinVar P/LPOrphanetMANE NM_002180.3GENESIS discovery
All stored identifiershgnc_idHGNC:5542 ensembl_gene_idENSG00000132740 coords_grch38chr11:68903863-68940602 coords_grch37chr11:68671310-68708070 entrez_id3508 omim_gene600502 uniprot_idsP38935 refseq_accessionNM_002180 mane_refseqNM_002180.3 mane_ensemblENST00000255078.8 |
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| INF2 | inverted formin 2 | 14q32.33 | AD | 1 | CMTDI | |||||||||||||||||||||||||||||||
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Severs actin filaments and accelerates their polymerization and depolymerization Source: UniProt
External recordsHGNC:23791OMIM 610982gnomADUniProt Q27J81ClinGenClinVar P/LPOrphanetMANE NM_022489.4
All stored identifiershgnc_idHGNC:23791 ensembl_gene_idENSG00000203485 coords_grch38chr14:104681146-104722535 coords_grch37chr14:105155943-105185942 entrez_id64423 omim_gene610982 uniprot_idsQ27J81 refseq_accessionNM_022489 mane_refseqNM_022489.4 mane_ensemblENST00000392634.9 |
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| INSC | INSC spindle orientation adaptor protein | 11p15.2 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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May function as an adapter linking the Par3 complex to the GPSM1/GPSM2 complex.
Involved in spindle orientation during mitosis. May regulate cell proliferation and differentiation in the developing nervous system. May play a role in the asymmetric division of fibroblasts and participate in the process of stratification of the squamous epithelium (By similarity)
All stored identifiershgnc_idHGNC:33116 ensembl_gene_idENSG00000188487 coords_grch38chr11:15112424-15247208 coords_grch37chr11:15133970-15268754 entrez_id387755 omim_gene610668 uniprot_idsQ1MX18 refseq_accessionNM_001031853 mane_refseqNM_001042536.3 mane_ensemblENST00000379556.8 |
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| ITPR3 | inositol 1,4,5-trisphosphate receptor type 3 | 6p21.31 | AD | 1 | CMT1 | |||||||||||||||||||||||||||||||
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Inositol 1,4,5-trisphosphate-gated calcium channel that, upon 1D-myo-inositol 1,4,5-trisphosphate binding, transports calcium from the endoplasmic reticulum lumen to cytoplasm, thus releasing the intracellular calcium and therefore participates in cellular calcium ion homeostasis.
1D-myo-inositol 1,4,5-trisphosphate binds to the ligand-free channel without altering its global conformation, yielding the low-energy resting state, then progresses through resting-to preactivated transitions to the higher energy preactivated state, which increases affinity for calcium, promoting binding of the low basal cytosolic calcium at the juxtamembrane domain (JD) site, favoring the transition through the ensemble of high-energy intermediate states along the trajectory to the fully-open activated state. Upon opening, releases calcium in the cytosol where it can bind to the low-affinity cytoplasmic domain (CD) site and stabilizes the inhibited state to terminate calcium release
All stored identifiershgnc_idHGNC:6182 ensembl_gene_idENSG00000096433 coords_grch38chr6:33620331-33696575 coords_grch37chr6:33588142-33664351 entrez_id3710 omim_gene147267 uniprot_idsQ14573 refseq_accessionNM_002224 mane_refseqNM_002224.4 mane_ensemblENST00000605930.3 |
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| JAG1 | jagged canonical Notch ligand 1 | 20p12.2 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Ligand for multiple Notch receptors and involved in the mediation of Notch signaling.
May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro)
All stored identifiershgnc_idHGNC:6188 ensembl_gene_idENSG00000101384 coords_grch38chr20:10637684-10674396 coords_grch37chr20:10625847-10627014 entrez_id182 omim_gene601920 uniprot_idsP78504 refseq_accessionNM_000214 mane_refseqNM_000214.3 mane_ensemblENST00000254958.10 |
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| KARS1 | lysyl-tRNA synthetase 1 | 16q23.1 | — | — | Candidate | |||||||||||||||||||||||||||||||
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Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.
When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages. Catalyzes the synthesis of the signaling molecule diadenosine tetraphosphate (Ap4A), and thereby mediates disruption of the complex between HINT1 and MITF and the concomitant activation of MITF transcriptional activityEvidencePanelApp Red
All stored identifiershgnc_idHGNC:6215 ensembl_gene_idENSG00000065427 coords_grch38chr16:75624160-75648663 coords_grch37chr16:75661622-75682541 entrez_id3735 omim_gene601421 uniprot_idsQ15046 refseq_accessionNM_005548 mane_refseqNM_005548.3 mane_ensemblENST00000302445.8 |
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| KCTD11 | potassium channel tetramerization domain containing 11 | 17p13.1 | AR | 1 | CMTRI | |||||||||||||||||||||||||||||||
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Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor.
Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as a probable substrate-specific adapter for a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex towards HDAC1. Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcription factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. When knock-down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade
All stored identifiershgnc_idHGNC:21302 ensembl_gene_idENSG00000213859 coords_grch38chr17:7351889-7354944 coords_grch37chr17:7255208-7258258 entrez_id147040 omim_gene609848 uniprot_idsQ693B1 refseq_accessionNM_001002914 mane_refseqNM_001363642.1 mane_ensemblENST00000333751.8 |
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| KIF1A | kinesin family member 1A | 2q37.3 | AR | 1 | HSN | |||||||||||||||||||||||||||||||
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Kinesin motor with a plus-end-directed microtubule motor activity (By similarity).
It is required for anterograde axonal transport of synaptic vesicle precursors. Also required for neuronal dense core vesicles (DCVs) transport to the dendritic spines and axons. The interaction calcium-dependent with CALM1 increases vesicle motility and interaction with the scaffolding proteins PPFIA2 and TANC2 recruits DCVs to synaptic sitesExternal recordsHGNC:888OMIM 601255gnomADUniProt Q12756ClinVar P/LPGeneReviewsOrphanetMANE NM_001244008.2
EvidencePanelApp Green
All stored identifiershgnc_idHGNC:888 ensembl_gene_idENSG00000130294 coords_grch38chr2:240713761-240824320 coords_grch37chr2:241653181-241759725 entrez_id547 omim_gene601255 uniprot_idsQ12756 refseq_accessionNM_138483 mane_refseqNM_001244008.2 mane_ensemblENST00000498729.9 |
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| KIF5A | kinesin family member 5A | 12q13.3 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL).
Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation
All stored identifiershgnc_idHGNC:6323 ensembl_gene_idENSG00000155980 coords_grch38chr12:57546026-57586633 coords_grch37chr12:57943781-57980415 entrez_id3798 omim_gene602821 uniprot_idsQ12840 refseq_accessionNM_004984 mane_refseqNM_004984.4 mane_ensemblENST00000455537.7 |
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| LITAF | lipopolysaccharide induced TNF factor | 16p13.13 | AD | 1 | CMT1 | |||||||||||||||||||||||||||||||
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Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation.
Plays a role in targeting endocytosed EGFR and ERGG3 for lysosomal degradation, and thereby helps down-regulate downstream signaling cascades. Helps recruit the ESCRT complex components TSG101, HGS and STAM to cytoplasmic membranes. Probably plays a role in regulating protein degradation via its interaction with NEDD4. May also contribute to the regulation of gene expression in the nucleus. Binds DNA (in vitro) and may play a synergistic role with STAT6 in the nucleus in regulating the expression of various cytokines. May regulate the expression of numerous cytokines, such as TNF, CCL2, CCL5, CXCL1, IL1A and IL10External recordsHGNC:16841OMIM 603795gnomADUniProt Q99732ClinGenClinVar P/LPOrphanetMANE NM_001136472.2
All stored identifiershgnc_idHGNC:16841 ensembl_gene_idENSG00000189067 coords_grch38chr16:11546224-11640269 coords_grch37chr16:11641853-11730237 entrez_id9516 omim_gene603795 uniprot_idsQ99732 refseq_accessionNM_004862 mane_refseqNM_001136472.2 mane_ensemblENST00000622633.5 |
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| LMNA | lamin A/C | 1q22 | AR | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane.
Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Lamin A and C also regulate matrix stiffness by conferring nuclear mechanical properties. The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively. Lamin A and C are present in equal amounts in the lamina of mammals. Also involved in DNA repair: recruited by DNA repair proteins XRCC4 and IFFO1 to the DNA double-strand breaks (DSBs) to prevent chromosome translocation by immobilizing broken DNA ends. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation. Required for osteoblastogenesis and bone formation. Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone. Required for cardiac homeostasis
All stored identifiershgnc_idHGNC:6636 ensembl_gene_idENSG00000160789 coords_grch38chr1:156082572-156140085 coords_grch37chr1:156052364-156109880 entrez_id4000 omim_gene150330 uniprot_idsP02545 refseq_accessionNM_170707 mane_refseqNM_170707.4 mane_ensemblENST00000368300.9 |
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| LRP12 | LDL receptor related protein 12 | 8q22.3 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction.
May act as a tumor suppressorEvidencePanelApp Amber
All stored identifiershgnc_idHGNC:31708 ensembl_gene_idENSG00000147650 coords_grch38chr8:104487485-104589292 coords_grch37chr8:105501459-105601252 entrez_id29967 omim_gene618299 uniprot_idsQ9Y561 refseq_accessionNM_013437 mane_refseqNM_013437.5 mane_ensemblENST00000276654.10 |
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| LRSAM1 | leucine rich repeat and sterile alpha motif containing 1 | 9q33.3-q34.11 | AD, AR | 1 | CMT2 | |||||||||||||||||||||||||||||||
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E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos.
Bacterial recognition protein that defends the cytoplasm from invasive pathogens. Localizes to several intracellular bacterial pathogens and generates the bacteria-associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy)External recordsHGNC:25135OMIM 610933gnomADUniProt Q6UWE0ClinGenClinVar P/LPOrphanetMANE NM_001005373.4
All stored identifiershgnc_idHGNC:25135 ensembl_gene_idENSG00000148356 coords_grch38chr9:127451469-127503503 coords_grch37chr9:130213765-130265780 entrez_id90678 omim_gene610933 uniprot_idsQ6UWE0 refseq_accessionNM_138361 mane_refseqNM_001005373.4 mane_ensemblENST00000300417.11 |
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| MARS1 | methionyl-tRNA synthetase 1 | 12q13.3 | — | — | Candidate | |||||||||||||||||||||||||||||||
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Catalyzes the specific attachment of L-methionine to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.
Plays a role in the synthesis of ribosomal RNA in the nucleolus. In addition, can prevent the misincorporation of homocysteine into tRNA and protein by catalyzing a tRNA-independent hydrolysis of the misactivated homocysteinyl-AMP intermediate. The homocysteinyl-AMP intermediate undergoes an intramolecular cyclization reaction in which the thiolate side chain of homocysteine displaces the AMP group, forming homocysteine-thiolactone and AMP (By similarity)External recordsHGNC:6898OMIM 156560gnomADUniProt P56192ClinGenClinVar P/LPOrphanetMANE NM_004990.4GENESIS discovery
All stored identifiershgnc_idHGNC:6898 ensembl_gene_idENSG00000166986 coords_grch38chr12:57475445-57517702 coords_grch37chr12:57869228-57911352 entrez_id4141 omim_gene156560 uniprot_idsP56192 refseq_accessionNM_004990 mane_refseqNM_004990.4 mane_ensemblENST00000262027.10 |
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| MCM3AP | minichromosome maintenance complex component 3 associated protein | 21q22.3 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores.
Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutationsEvidenceClinGen Definitive peripheral neuropathy, autosomal recessive, with or without impaired intellectual developmentPanelApp Green
All stored identifiershgnc_idHGNC:6946 ensembl_gene_idENSG00000160294 coords_grch38chr21:46232689-46286617 coords_grch37chr21:47655047-47706211 entrez_id8888 omim_gene603294 uniprot_idsO60318 refseq_accessionNM_003906 mane_refseqNM_003906.5 mane_ensemblENST00000291688.6 |
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| MFN2 | mitofusin 2 | 1p36.22 | AD, AR | 4 | CMT2HMSN | |||||||||||||||||||||||||||||||
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Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion.
Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events. Overexpression induces the formation of mitochondrial networks. Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes (By similarity). Plays an important role in the regulation of vascular smooth muscle cell proliferation (By similarity). Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). Is required for PRKN recruitment to dysfunctional mitochondria. Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress (By similarity). Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions (By similarity)External recordsHGNC:16877OMIM 608507gnomADUniProt O95140ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_014874.4
All stored identifiershgnc_idHGNC:16877 ensembl_gene_idENSG00000116688 coords_grch38chr1:11980181-12015211 coords_grch37chr1:12040238-12073571 entrez_id9927 omim_gene608507 uniprot_idsO95140 refseq_accessionNM_014874 mane_refseqNM_014874.4 mane_ensemblENST00000235329.10 |
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| MME | membrane metalloendopeptidase | 3q25.2 | AD, AR | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids.
Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond. Catalyzes cleavage of bradykinin, substance P and neurotensin peptides. Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9. Involved in the degradation of atrial natriuretic factor (ANF) and brain natriuretic factor (BNP(1-32)). Displays UV-inducible elastase activity toward skin preelastic and elastic fibersExternal recordsHGNC:7154OMIM 120520gnomADUniProt P08473ClinGenClinVar P/LPOrphanetMANE NM_007289.4GENESIS discovery
All stored identifiershgnc_idHGNC:7154 ensembl_gene_idENSG00000196549 coords_grch38chr3:155024124-155183813 coords_grch37chr3:154741913-154901497 entrez_id4311 omim_gene120520 uniprot_idsP08473 refseq_accessionNM_000902 mane_refseqNM_007289.4 mane_ensemblENST00000360490.7 |
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| MORC2 | MORC family CW-type zinc finger 2 | 22q12.2 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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ATP-dependent chromatin remodeler essential for epigenetic silencing by the HUSH (human silencing hub) complex.
Recruited by HUSH to target site in heterochromatin, the ATPase activity and homodimerization are critical for HUSH-mediated silencing. Represses germ cell-related genes and L1 retrotransposons in collaboration with SETDB1 and the HUSH complex, the silencing is dependent of repressive epigenetic modifications, such as H3K9me3 mark. Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression. During DNA damage response, regulates chromatin remodeling through ATP hydrolysis. Upon DNA damage, is phosphorylated by PAK1, both colocalize to chromatin and induce H2AX expression. ATPase activity is required and dependent of phosphorylation by PAK1 and presence of DNA. Recruits histone deacetylases, such as HDAC4, to promoter regions, causing local histone H3 deacetylation and transcriptional repression of genes such as CA9. Exhibits a cytosolic function in lipogenesis, adipogenic differentiation, and lipid homeostasis by increasing the activity of ACLY, possibly preventing its dephosphorylation. Together with MPHOSPH8, mediates silencing of protocadherin genes in the nervous system (By similarity)External recordsHGNC:23573OMIM 616661gnomADUniProt Q9Y6X9ClinGenClinVar P/LPOrphanetMANE NM_001303256.3GENESIS discovery
All stored identifiershgnc_idHGNC:23573 ensembl_gene_idENSG00000133422 coords_grch38chr22:30925130-30969662 coords_grch37chr22:31321117-31364284 entrez_id22880 omim_gene616661 uniprot_idsQ9Y6X9 refseq_accessionNM_014941 mane_refseqNM_001303256.3 mane_ensemblENST00000397641.8 |
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| MPV17 | mitochondrial inner membrane protein MPV17 | 2p23.3 | AR | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis.
Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance. May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity)EvidencePanelApp Green
All stored identifiershgnc_idHGNC:7224 ensembl_gene_idENSG00000115204 coords_grch38chr2:27309486-27325680 coords_grch37chr2:27532360-27548547 entrez_id4358 omim_gene137960 uniprot_idsP39210 refseq_accessionNM_002437 mane_refseqNM_002437.5 mane_ensemblENST00000380044.6 |
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| MPZ | myelin protein zero | 1q23.3 | AD | 4 | CMT1CMT2CMTDI | |||||||||||||||||||||||||||||||
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Is an adhesion molecule necessary for normal myelination in the peripheral nervous system.
It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compactionEvidenceClinGen Definitive Charcot-Marie-Tooth diseasePanelApp GreenClinGen dosage HI 2 · Emerging evidence · TS 1 · Little evidence
All stored identifiershgnc_idHGNC:7225 ensembl_gene_idENSG00000158887 coords_grch38chr1:161304735-161309974 coords_grch37chr1:161274525-161279762 entrez_id4359 omim_gene159440 uniprot_idsP25189 refseq_accessionNM_000530 mane_refseqNM_000530.8 mane_ensemblENST00000533357.5 |
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| MT-ATP6 | mitochondrially encoded ATP synthase membrane subunit 6 | MT | Mito | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (Probable).
ATP synthase complex consist of a soluble F(1) head domain – the catalytic core – and a membrane F(1) domain – the membrane proton channel. These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). With the subunit c (ATP5MC1), forms the proton-conducting channel in the F(0) domain, that contains two crucial half-channels (inlet and outlet) that facilitate proton movement from the mitochondrial intermembrane space (IMS) into the matrix. Protons are taken up via the inlet half-channel and released through the outlet half-channel, following a Grotthuss mechanismEvidencePanelApp Green
All stored identifiershgnc_idHGNC:7414 ensembl_gene_idENSG00000198899 coords_grch38chrMT:8527-9207 coords_grch37chrMT:8527-9207 entrez_id4508 omim_gene516060 uniprot_idsP00846 refseq_accessionYP_003024031 mane_refseqnot applicable mane_ensemblnot applicable |
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| MT-TV | mitochondrially encoded tRNA-Val (GUN) | n/a | — | — | Candidate | |||||||||||||||||||||||||||||||
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EvidencePanelApp Amber
All stored identifiershgnc_idHGNC:7500 ensembl_gene_idENSG00000210077 coords_grch38chrMT:1602-1670 coords_grch37chrMT:1602-1670 entrez_id4577 omim_gene590105 uniprot_idsnot applicable refseq_accessionnot applicable mane_refseqnot applicable mane_ensemblnot applicable |
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| MTMR2 | myotubularin related protein 2 | 11q21 | AR | 1 | CMT4 | |||||||||||||||||||||||||||||||
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Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate.
Regulates the level of these phosphoinositides critical for various biological processes including autophagy initiation and autophagosome maturation
All stored identifiershgnc_idHGNC:7450 ensembl_gene_idENSG00000087053 coords_grch38chr11:95821766-95925315 coords_grch37chr11:95566046-95658479 entrez_id8898 omim_gene603557 uniprot_idsQ13614 refseq_accessionNM_016156 mane_refseqNM_016156.6 mane_ensemblENST00000346299.10 |
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| MTRFR | mitochondrial translation release factor in rescue | 12q24.31 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Part of a mitoribosome-associated quality control pathway that prevents aberrant translation by responding to interruptions during elongation.
As heterodimer with MTRES1, ejects the unfinished nascent chain and peptidyl transfer RNA (tRNA), respectively, from stalled ribosomes. Recruitment of mitoribosome biogenesis factors to these quality control intermediates suggests additional roles for MTRES1 and MTRF during mitoribosome rescue
All stored identifiershgnc_idHGNC:26784 ensembl_gene_idENSG00000130921 coords_grch38chr12:123232142-123258079 coords_grch37not applicable entrez_id91574 omim_gene613541 uniprot_idsQ9H3J6 refseq_accessionNM_152269 mane_refseqNM_152269.5 mane_ensemblENST00000253233.6 |
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| MYH14 | myosin heavy chain 14 | 19q13.33 | AD | 1 | dHMN/HMN | |||||||||||||||||||||||||||||||
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Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping Source: UniProt
All stored identifiershgnc_idHGNC:23212 ensembl_gene_idENSG00000105357 coords_grch38chr19:50188181-50310545 coords_grch37chr19:50691443-50813802 entrez_id79784 omim_gene608568 uniprot_idsQ7Z406 refseq_accessionNM_024729 mane_refseqNM_001145809.2 mane_ensemblENST00000642316.2 |
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| MYO9B | myosin IXB | 19p13.11 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Myosins are actin-based motor molecules with ATPase activity.
Unconventional myosins serve in intracellular movements. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions. Also acts as a GTPase activator for RHOA. Plays a role in the regulation of cell migration via its role as RHOA GTPase activator. This is regulated by its interaction with the SLIT2 receptor ROBO1; interaction with ROBO1 impairs interaction with RHOA and subsequent activation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOAExternal recordsHGNC:7609OMIM 602129gnomADUniProt Q13459ClinVar P/LPMANE NM_004145.4GENESIS discovery
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All stored identifiershgnc_idHGNC:7609 ensembl_gene_idENSG00000099331 coords_grch38chr19:17075728-17214537 coords_grch37chr19:17186591-17325346 entrez_id4650 omim_gene602129 uniprot_idsQ13459 refseq_accessionNM_001130065 mane_refseqNM_004145.4 mane_ensemblENST00000682292.1 |
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| NAGLU | N-acetyl-alpha-glucosaminidase | 17q21.2 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Involved in the degradation of heparan sulfate Source: UniProt
External recordsHGNC:7632OMIM 609701gnomADUniProt P54802ClinVar P/LPOrphanetMANE NM_000263.4GENESIS discovery
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All stored identifiershgnc_idHGNC:7632 ensembl_gene_idENSG00000108784 coords_grch38chr17:42536216-42544449 coords_grch37chr17:40688190-40696467 entrez_id4669 omim_gene609701 uniprot_idsP54802 refseq_accessionNM_000263 mane_refseqNM_000263.4 mane_ensemblENST00000225927.7 |
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| NAMPT | nicotinamide phosphoribosyltransferase | 7q22.3 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, an intermediate in the biosynthesis of NAD.
It is the rate limiting component in the mammalian NAD biosynthesis pathway. The secreted form behaves both as a cytokine with immunomodulating properties and an adipokine with anti-diabetic properties, it has no enzymatic activity, partly because of lack of activation by ATP, which has a low level in extracellular space and plasma. Plays a role in the modulation of circadian clock function. NAMPT-dependent oscillatory production of NAD regulates oscillation of clock target gene expression by releasing the core clock component: CLOCK-BMAL1 heterodimer from NAD-dependent SIRT1-mediated suppression (By similarity)
All stored identifiershgnc_idHGNC:30092 ensembl_gene_idENSG00000105835 coords_grch38chr7:106248298-106291225 coords_grch37chr7:105888731-105926772 entrez_id10135 omim_gene608764 uniprot_idsP43490 refseq_accessionNM_182790 mane_refseqNM_005746.3 mane_ensemblENST00000222553.8 |
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| NARS1 | asparaginyl-tRNA synthetase 1 | 18q21.31 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Catalyzes the attachment of asparagine to tRNA(Asn) in a two-step reaction: asparagine is first activated by ATP to form Asn-AMP and then transferred to the acceptor end of tRNA(Asn).
In addition to its essential role in protein synthesis, acts as a signaling molecule that induced migration of CCR3-expressing cells. Has an essential role in the development of the cerebral cortex, being required for proper proliferation of radial glial cellsExternal recordsHGNC:7643OMIM 108410gnomADUniProt O43776ClinVar P/LPGeneReviewsOrphanetMANE NM_004539.4
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All stored identifiershgnc_idHGNC:7643 ensembl_gene_idENSG00000134440 coords_grch38chr18:57589520-57622213 coords_grch37chr18:55267888-55289445 entrez_id4677 omim_gene108410 uniprot_idsO43776 refseq_accessionNM_004539 mane_refseqNM_004539.4 mane_ensemblENST00000256854.10 |
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| NDRG1 | N-myc downstream regulated 1 | 8q24.22 | AR | 1 | CMT4 | |||||||||||||||||||||||||||||||
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Stress-responsive protein involved in hormone responses, cell growth, and differentiation.
Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regulates microtubule dynamics and maintains euploidyEvidencePanelApp Green
All stored identifiershgnc_idHGNC:7679 ensembl_gene_idENSG00000104419 coords_grch38chr8:133237171-133302022 coords_grch37chr8:134249414-134314265 entrez_id10397 omim_gene605262 uniprot_idsQ92597 refseq_accessionNM_001135242 mane_refseqNM_006096.4 mane_ensemblENST00000323851.13 |
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| NDUFS6 | NADH:ubiquinone oxidoreductase subunit S6 | 5p15.33 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis.
Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinoneEvidencePanelApp Green
All stored identifiershgnc_idHGNC:7713 ensembl_gene_idENSG00000145494 coords_grch38chr5:1801363-1816051 coords_grch37chr5:1801514-1816719 entrez_id4726 omim_gene603848 uniprot_idsO75380 refseq_accessionNM_004553 mane_refseqNM_004553.6 mane_ensemblENST00000274137.10 |
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| NEFH | neurofilament heavy chain | 22q12.2 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber.
NEFH has an important function in mature axons that is not subserved by the two smaller NF proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity)External recordsHGNC:7737OMIM 162230gnomADUniProt P12036ClinGenClinVar P/LPOrphanetMANE NM_021076.4GENESIS discovery
All stored identifiershgnc_idHGNC:7737 ensembl_gene_idENSG00000100285 coords_grch38chr22:29480209-29491390 coords_grch37chr22:29876219-29887379 entrez_id4744 omim_gene162230 uniprot_idsP12036 refseq_accessionNM_021076 mane_refseqNM_021076.4 mane_ensemblENST00000310624.7 |
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| NEFL | neurofilament light chain | 8p21.2 | AD, AR | 4 | CMT1CMT2CMTDI | |||||||||||||||||||||||||||||||
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Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber.
May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity)
All stored identifiershgnc_idHGNC:7739 ensembl_gene_idENSG00000277586 coords_grch38chr8:24950955-24956721 coords_grch37chr8:24808468-24814624 entrez_id4747 omim_gene162280 uniprot_idsP07196 refseq_accessionNM_006158 mane_refseqNM_006158.5 mane_ensemblENST00000610854.2 |
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| NGF | nerve growth factor | 1p13.2 | AR | 1 | HSAN | |||||||||||||||||||||||||||||||
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Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems.
Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades to regulate neuronal proliferation, differentiation and survival (Probable). The immature NGF precursor (proNGF) functions as a ligand for the heterodimeric receptor formed by SORCS2 and NGFR, and activates cellular signaling cascades that lead to inactivation of RAC1 and/or RAC2, reorganization of the actin cytoskeleton and neuronal growth cone collapse. In contrast to mature NGF, the precursor form (proNGF) promotes neuronal apoptosis (in vitro) (By similarity). Inhibits metalloproteinase-dependent proteolysis of platelet glycoprotein VI. Binds lysophosphatidylinositol and lysophosphatidylserine between the two chains of the homodimer. The lipid-bound form promotes histamine relase from mast cells, contrary to the lipid-free form (By similarity)
All stored identifiershgnc_idHGNC:7808 ensembl_gene_idENSG00000134259 coords_grch38chr1:115285904-115338770 coords_grch37chr1:115828539-115880857 entrez_id4803 omim_gene162030 uniprot_idsP01138 refseq_accessionNM_002506 mane_refseqNM_002506.3 mane_ensemblENST00000369512.3 |
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| NOTCH2NLC | notch 2 N-terminal like C | 1q21.2 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway.
Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production. Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect. Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2. Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity)
All stored identifiershgnc_idHGNC:53924 ensembl_gene_idENSG00000286219 coords_grch38chr1:149390534-149471833 coords_grch37not applicable entrez_id100996717 omim_gene618025 uniprot_idsP0DPK4 refseq_accessionNM_001364012 mane_refseqNM_001364013.2 mane_ensemblENST00000650865.2 |
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| NTRK1 | neurotrophic receptor tyrosine kinase 1 | 1q23.1 | AR | 1 | HSAN | |||||||||||||||||||||||||||||||
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Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic and nervous neurons.
High affinity receptor for NGF which is its primary ligand. Can also bind and be activated by NTF3/neurotrophin-3. However, NTF3 only supports axonal extension through NTRK1 but has no effect on neuron survival (By similarity). Upon dimeric NGF ligand-binding, undergoes homodimerization, autophosphorylation and activation. Recruits, phosphorylates and/or activates several downstream effectors including SHC1, FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlapping signaling cascades driving cell survival and differentiation. Through SHC1 and FRS2 activates a GRB2-Ras-MAPK cascade that regulates cell differentiation and survival. Through PLCG1 controls NF-Kappa-B activation and the transcription of genes involved in cell survival. Through SHC1 and SH2B1 controls a Ras-PI3 kinase-AKT1 signaling cascade that is also regulating survival. In absence of ligand and activation, may promote cell death, making the survival of neurons dependent on trophic factorsExternal recordsHGNC:8031OMIM 191315gnomADUniProt P04629ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_002529.4
All stored identifiershgnc_idHGNC:8031 ensembl_gene_idENSG00000198400 coords_grch38chr1:156815636-156881850 coords_grch37chr1:156785432-156851642 entrez_id4914 omim_gene191315 uniprot_idsP04629 refseq_accessionNM_002529 mane_refseqNM_002529.4 mane_ensemblENST00000524377.7 |
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| PDK3 | pyruvate dehydrogenase kinase 3 | Xp22.11 | XLD | 1 | CMTX | |||||||||||||||||||||||||||||||
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Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration.
Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen speciesExternal recordsHGNC:8811OMIM 300906gnomADUniProt Q15120ClinGenClinVar P/LPOrphanetMANE NM_005391.5GENESIS discovery
All stored identifiershgnc_idHGNC:8811 ensembl_gene_idENSG00000067992 coords_grch38chrX:24465244-24550466 coords_grch37chrX:24483338-24557954 entrez_id5165 omim_gene300906 uniprot_idsQ15120 refseq_accessionNM_005391 mane_refseqNM_005391.5 mane_ensemblENST00000379162.9 |
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| PDXK | pyridoxal kinase | 21q22.3 | AR | 1 | HMSN | |||||||||||||||||||||||||||||||
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Catalyzes the phosphorylation of the dietary vitamin B6 vitamers pyridoxal (PL), pyridoxine (PN) and pyridoxamine (PM) to form pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), respectively (Probable).
PLP is the active form of vitamin B6, and acts as a cofactor for over 140 different enzymatic reactionsEvidencePanelApp Green
All stored identifiershgnc_idHGNC:8819 ensembl_gene_idENSG00000160209 coords_grch38chr21:43719061-43762307 coords_grch37chr21:45138975-45182188 entrez_id8566 omim_gene179020 uniprot_idsO00764 refseq_accessionNM_003681 mane_refseqNM_003681.5 mane_ensemblENST00000291565.9 |
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| PHYH | phytanoyl-CoA 2-hydroxylase | 10p13 | AR | 1 | HMSN | |||||||||||||||||||||||||||||||
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Catalyzes the 2-hydroxylation of not only racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length longer than four carbon atoms).
Does not hydroxylate long and very long straight chain acyl-CoAs or 2-methyl- and 4-methyl-branched acyl-CoAsExternal recordsHGNC:8940OMIM 602026gnomADUniProt O14832ClinVar P/LPGeneReviewsOrphanetMANE NM_006214.4
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All stored identifiershgnc_idHGNC:8940 ensembl_gene_idENSG00000107537 coords_grch38chr10:13276854-13302412 coords_grch37chr10:13319796-13344412 entrez_id5264 omim_gene602026 uniprot_idsO14832 refseq_accessionNM_001037537 mane_refseqNM_006214.4 mane_ensemblENST00000263038.9 |
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| PIEZO2 | piezo type mechanosensitive ion channel component 2 | 18p11.22-p11.21 | — | — | Candidate | |||||||||||||||||||||||||||||||
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Pore-forming subunit of the mechanosensitive non-specific cation Piezo channel required for rapidly adapting mechanically activated (MA) currents and has a key role in sensing touch and tactile pain.
Piezo channels are homotrimeric three-blade propeller-shaped structures that utilize a cap-motion and plug-and-latch mechanism to gate their ion-conducting pathways. Expressed in sensory neurons, is essential for diverse physiological processes, including respiratory control, systemic metabolism, urinary function, and proprioception (By similarity). Mediates airway stretch sensing, enabling efficient respiration at birth and maintaining normal breathing in adults (By similarity). It regulates brown and beige adipose tissue morphology and function, preventing systemic hypermetabolism (By similarity). In the lower urinary tract, acts as a sensor in both the bladder urothelium and innervating sensory neurons being required for bladder-stretch sensing and urethral micturition reflexes, ensuring proper urinary function. Additionally, PIEZO2 serves as the principal mechanotransducer in proprioceptors, facilitating proprioception and coordinated body movements (By similarity). In inner ear hair cells, PIEZO1/2 subunits may constitute part of the mechanotransducer (MET) non-selective cation channel complex where they may act as pore-forming ion-conducting component in the complex (By similarity). Required for Merkel-cell mechanotransduction (By similarity). Plays a major role in light-touch mechanosensation (By similarity). In kidney, during blood volume challenges, regulates calcium dynamics and maintains renin production, thereby serving as an essential regulator of the renin-angiotensin-aldosterone system (RAAS) and systemic blood volume control (By similarity)EvidencePanelApp Green
All stored identifiershgnc_idHGNC:26270 ensembl_gene_idENSG00000154864 coords_grch38chr18:10666483-11149591 coords_grch37chr18:10666480-11148587 entrez_id63895 omim_gene613629 uniprot_idsQ9H5I5 refseq_accessionNM_022068 mane_refseqNM_001378183.1 mane_ensemblENST00000674853.1 |
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| PIGG | phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | 4p16.3 | — | — | Candidate | |||||||||||||||||||||||||||||||
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Catalytic subunit of the ethanolamine phosphate transferase 2 complex that transfers an ethanolamine phosphate (EtNP) from a phosphatidylethanolamine (PE) to the 6-OH position of the second alpha-1,6-linked mannose of a 2-acyl-6-[6-phosphoethanolamine-alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H7) intermediate to generate a 2-acyl-6-[6-phosphoethanolamine-alpha-D-mannosyl-(1->2)-6-phosphoethanolamine-alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H8) and participates in the eleventh step of the glycosylphosphatidylinositol-anchor biosynthesis Source: UniProt
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All stored identifiershgnc_idHGNC:25985 ensembl_gene_idENSG00000174227 coords_grch38chr4:499195-541173 coords_grch37chr4:492989-533985 entrez_id54872 omim_gene616918 uniprot_idsQ5H8A4 refseq_accessionNM_017733 mane_refseqNM_001127178.3 mane_ensemblENST00000453061.7 |
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| PLEKHG5 | pleckstrin homology and RhoGEF domain containing G5 | 1p36.31 | AR | 2 | CMTRIdSMA | |||||||||||||||||||||||||||||||
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Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity).
Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Also affects the migration, adhesion, and matrix/bone degradation in macrophages and osteoclastsExternal recordsHGNC:29105OMIM 611101gnomADUniProt O94827ClinGenClinVar P/LPOrphanetMANE NM_020631.6GENESIS discovery
All stored identifiershgnc_idHGNC:29105 ensembl_gene_idENSG00000171680 coords_grch38chr1:6467122-6520074 coords_grch37chr1:6526152-6580121 entrez_id57449 omim_gene611101 uniprot_idsO94827 refseq_accessionNM_020631 mane_refseqNM_020631.6 mane_ensemblENST00000377728.8 |
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| PMP2 | peripheral myelin protein 2 | 8q21.13 | AD | 1 | CMT1 | |||||||||||||||||||||||||||||||
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May play a role in lipid transport protein in Schwann cells.
May bind cholesterolExternal recordsHGNC:9117OMIM 170715gnomADUniProt P02689ClinGenClinVar P/LPOrphanetMANE NM_002677.5GENESIS discovery
All stored identifiershgnc_idHGNC:9117 ensembl_gene_idENSG00000147588 coords_grch38chr8:81440326-81447518 coords_grch37chr8:82352561-82359758 entrez_id5375 omim_gene170715 uniprot_idsP02689 refseq_accessionNM_002677 mane_refseqNM_002677.5 mane_ensemblENST00000256103.3 |
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| PMP22 | peripheral myelin protein 22 | 17p12 | AD | 3 | CMT1 | |||||||||||||||||||||||||||||||
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Might be involved in growth regulation, and in myelinization in the peripheral nervous system Source: UniProt
EvidenceClinGen Definitive Charcot-Marie-Tooth disease type 1APanelApp GreenClinGen dosage HI 3 · Sufficient evidence
All stored identifiershgnc_idHGNC:9118 ensembl_gene_idENSG00000109099 coords_grch38chr17:15176316-15272292 coords_grch37chr17:15133095-15168643 entrez_id5376 omim_gene601097 uniprot_idsQ01453 refseq_accessionNM_000304 mane_refseqNM_000304.4 mane_ensemblENST00000312280.9 |
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| PNKP | polynucleotide kinase 3'-phosphatase | 19q13.33 | AR | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways.
Through its two catalytic activities, PNK ensures that DNA termini are compatible with extension and ligation by either removing 3'-phosphates from, or by phosphorylating 5'-hydroxyl groups on, the ribose sugar of the DNA backboneEvidencePanelApp Green
All stored identifiershgnc_idHGNC:9154 ensembl_gene_idENSG00000039650 coords_grch38chr19:49859882-49878351 coords_grch37chr19:50364461-50371166 entrez_id11284 omim_gene605610 uniprot_idsQ96T60 refseq_accessionNM_007254 mane_refseqNM_007254.4 mane_ensemblENST00000322344.8 |
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| POLG | DNA polymerase gamma, catalytic subunit | 15q26.1 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Catalytic subunit of DNA polymerase gamma solely responsible for replication of mitochondrial DNA (mtDNA).
Replicates both heavy and light strands of the circular mtDNA genome using a single-stranded DNA template, RNA primers and the four deoxyribonucleoside triphosphates as substrates. Has 5' -> 3' polymerase activity. Functionally interacts with TWNK and SSBP1 at the replication fork to form a highly processive replisome, where TWNK unwinds the double-stranded DNA template prior to replication and SSBP1 covers the parental heavy strand to enable continuous replication of the entire mitochondrial genome. A single nucleotide incorporation cycle includes binding of the incoming nucleotide at the insertion site, a phosphodiester bond formation reaction that extends the 3'-end of the primer DNA, and translocation of the primer terminus to the post-insertion site. After completing replication of a mtDNA strand, mediates 3' -> 5' exonucleolytic degradation at the nick to enable proper ligation. Highly accurate due to high nucleotide selectivity and 3' -> 5' exonucleolytic proofreading. Proficiently corrects base substitutions, single-base additions and deletions in non-repetitive sequences and short repeats, but displays lower proofreading activity when replicating longer homopolymeric stretches. Exerts exonuclease activity toward single-stranded DNA and double-stranded DNA containing 3'-terminal mispairs. When a misincorporation occurs, transitions from replication to a pro-nucleolytic editing mode and removes the missincorporated nucleoside in the exonuclease active site. Proceeds via an SN2 nucleolytic mechanism in which Asp-198 catalyzes phosphodiester bond hydrolysis and Glu-200 stabilizes the leaving group. As a result the primer strand becomes one nucleotide shorter and is positioned in the post-insertion site, ready to resume DNA synthesis. Exerts 5'-deoxyribose phosphate (dRP) lyase activity and mediates repair-associated mtDNA synthesis (gap filling) in base-excision repair pathway. Catalyzes the release of the 5'-terminal 2-deoxyribose-5-phosphate sugar moiety from incised apurinic/apyrimidinic (AP) sites to produce a substrate for DNA ligase. The dRP lyase reaction does not require divalent metal ions and likely proceeds via a Schiff base intermediate in a beta-elimination reaction mechanismEvidencePanelApp Green
All stored identifiershgnc_idHGNC:9179 ensembl_gene_idENSG00000140521 coords_grch38chr15:89305198-89334972 coords_grch37chr15:89859534-89878092 entrez_id5428 omim_gene174763 uniprot_idsP54098 refseq_accessionNM_002693 mane_refseqNM_002693.3 mane_ensemblENST00000268124.11 |
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| POLR3B | RNA polymerase III subunit B | 12q23.3 | AD | 1 | CMT1 | |||||||||||||||||||||||||||||||
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Catalytic core component of RNA polymerase III (Pol III), a DNA-dependent RNA polymerase which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates.
Synthesizes 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. Pol III-mediated transcription cycle proceeds through transcription initiation, transcription elongation and transcription termination stages. During transcription initiation, Pol III is recruited to DNA promoters type I, II or III with the help of general transcription factors and other specific initiation factors. Once the polymerase has escaped from the promoter it enters the elongation phase during which RNA is actively polymerized, based on complementarity with the template DNA strand. Transcription termination involves the release of the RNA transcript and polymerase from the DNA. Forms Pol III active center together with the largest subunit POLR3A/RPC1. A single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol III. Appends one nucleotide at a time to the 3' end of the nascent RNA, with POLR3A/RPC1 contributing a Mg(2+)-coordinating DxDGD motif, and POLR3B/RPC2 participating in the coordination of a second Mg(2+) ion and providing lysine residues believed to facilitate Watson-Crick base pairing between the incoming nucleotide and template base. Typically, Mg(2+) ions direct a 5' nucleoside triphosphate to form a phosphodiester bond with the 3' hydroxyl of the preceding nucleotide of the nascent RNA, with the elimination of pyrophosphate. Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as a nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathwayEvidencePanelApp Green
All stored identifiershgnc_idHGNC:30348 ensembl_gene_idENSG00000013503 coords_grch38chr12:106357693-106511222 coords_grch37chr12:106751436-106903976 entrez_id55703 omim_gene614366 uniprot_idsQ9NW08 refseq_accessionNM_018082 mane_refseqNM_018082.6 mane_ensemblENST00000228347.9 |
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| PRDM12 | PR/SET domain 12 | 9q34.12 | AR | 1 | HSAN | |||||||||||||||||||||||||||||||
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Transcriptional regulator necessary for the development of nociceptive neurons, playing a key role in determining the nociceptive lineage from neural crest cell progenitors.
Initiates neurogenesis and activates downstream pro-neuronal transcription factors, such as NEUROD1, BRN3A, and ISL1, specifically within nociceptive neurons, while repressing non-nociceptor cell fates. Essential for the proper function of nociceptors in adults, influencing both their excitability and their gene expression, thereby impacting how these neurons respond to various pain stimuliEvidencePanelApp Green
All stored identifiershgnc_idHGNC:13997 ensembl_gene_idENSG00000130711 coords_grch38chr9:130664594-130682986 coords_grch37chr9:133539981-133558368 entrez_id59335 omim_gene616458 uniprot_idsQ9H4Q4 refseq_accessionNM_021619 mane_refseqNM_021619.3 mane_ensemblENST00000253008.3 |
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| PRNP | prion protein (Kanno blood group) | 20p13 | — | — | Candidate | |||||||||||||||||||||||||||||||
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All stored identifiershgnc_idHGNC:9449 ensembl_gene_idENSG00000171867 coords_grch38chr20:4685730-4701590 coords_grch37chr20:4666882-4682236 entrez_id5621 omim_gene176640 uniprot_idsF7VJQ1 refseq_accessionNM_000311 mane_refseqNM_000311.5 mane_ensemblENST00000379440.9 |
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| PRPS1 | phosphoribosyl pyrophosphate synthetase 1 | Xq22.3 | XLR | 1 | CMTX | |||||||||||||||||||||||||||||||
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Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis Source: UniProt
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All stored identifiershgnc_idHGNC:9462 ensembl_gene_idENSG00000147224 coords_grch38chrX:107628428-107651993 coords_grch37chrX:106871737-106894256 entrez_id5631 omim_gene311850 uniprot_idsP60891 refseq_accessionNM_001204402 mane_refseqNM_002764.4 mane_ensemblENST00000372435.10 |
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| PRX | periaxin | 19q13.2 | AR | 1 | CMT4 | |||||||||||||||||||||||||||||||
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Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells.
Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphologyExternal recordsHGNC:13797OMIM 605725gnomADUniProt Q9BXM0ClinGenClinVar P/LPOrphanetMANE NM_181882.3
All stored identifiershgnc_idHGNC:13797 ensembl_gene_idENSG00000105227 coords_grch38chr19:40393764-40415070 coords_grch37chr19:40899675-40919273 entrez_id57716 omim_gene605725 uniprot_idsQ9BXM0 refseq_accessionNM_020956 mane_refseqNM_181882.3 mane_ensemblENST00000324001.8 |
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| PSAT1 | phosphoserine aminotransferase 1 | 9q21.2 | AD, AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Involved in L-serine biosynthesis via the phosphorylated pathway, a three-step pathway converting the glycolytic intermediate 3-phospho-D-glycerate into L-serine.
Catalyzes the second step, that is the pyridoxal 5'-phosphate-dependent transamination of 3-phosphohydroxypyruvate and L-glutamate to O-phosphoserine (OPS) and alpha-ketoglutarate. Acts as an inhibitor of ferroptosis in response to interferon-gamma (IFNG) by promoting GPX4 stability: following phosphorylation by CAMK2A, PSAT1 interacts with GPX4 and provides 2-oxoglutarate to EGLN3, leading to GPX4 hydroxylation and stability
All stored identifiershgnc_idHGNC:19129 ensembl_gene_idENSG00000135069 coords_grch38chr9:78297094-78356024 coords_grch37chr9:80912059-80945009 entrez_id29968 omim_gene610936 uniprot_idsQ9Y617 refseq_accessionNM_021154 mane_refseqNM_058179.4 mane_ensemblENST00000376588.4 |
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| RAB7A | RAB7A, member RAS oncogene family | 3q21.3 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.
Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. In its active state, RAB7A binds to a variety of effector proteins playing a key role in the regulation of endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Also plays a central role in growth-factor-mediated cell signaling, nutrient-transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA. Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved in the ADRB2-stimulated lipolysis through lipophagy, a cytosolic lipase-independent autophagic pathway (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan. Required for vesicular trafficking and cell surface expression of ACE2. May play a role in PRPH neuronal intermediate filament assembly (By similarity)
All stored identifiershgnc_idHGNC:9788 ensembl_gene_idENSG00000075785 coords_grch38chr3:128693669-128825980 coords_grch37chr3:128444965-128533639 entrez_id7879 omim_gene602298 uniprot_idsP51149 refseq_accessionNM_004637 mane_refseqNM_004637.6 mane_ensemblENST00000265062.8 |
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| REEP1 | receptor accessory protein 1 | 2p11.2 | AD | 1 | dHMN/HMN | |||||||||||||||||||||||||||||||
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Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton.
May also enhance the cell surface expression of odorant receptors. May play a role in long-term axonal maintenanceEvidencePanelApp Green
All stored identifiershgnc_idHGNC:25786 ensembl_gene_idENSG00000068615 coords_grch38chr2:86210522-86338083 coords_grch37chr2:86441116-86565206 entrez_id65055 omim_gene609139 uniprot_idsQ9H902 refseq_accessionNM_022912 mane_refseqNM_001371279.1 mane_ensemblENST00000538924.7 |
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| RETREG1 | reticulophagy regulator 1 | 5p15.1 | AR | 1 | HSAN | |||||||||||||||||||||||||||||||
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Endoplasmic reticulum (ER)-anchored autophagy regulator which mediates ER delivery into lysosomes through sequestration into autophagosomes.
Promotes membrane remodeling and ER scission via its membrane bending capacity and targets the fragments into autophagosomes via interaction with ATG8 family proteins. Active under basal conditions. Required for collagen quality control in a LIR motif-dependent manner (By similarity). Required for long-term survival of nociceptive and autonomic ganglion neuronsExternal recordsHGNC:25964OMIM 613114gnomADUniProt Q9H6L5ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_001034850.3
All stored identifiershgnc_idHGNC:25964 ensembl_gene_idENSG00000154153 coords_grch38chr5:16473038-16617194 coords_grch37chr5:16473147-16617167 entrez_id54463 omim_gene613114 uniprot_idsQ9H6L5 refseq_accessionNM_001034850 mane_refseqNM_001034850.3 mane_ensemblENST00000306320.10 |
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| RFC1 | replication factor C subunit 1 | 4p14 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA.
This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Can bind single- or double-stranded DNAExternal recordsHGNC:9969OMIM 102579gnomADUniProt P35251ClinVar P/LPGeneReviewsOrphanetMANE NM_002913.5GENESIS discovery
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All stored identifiershgnc_idHGNC:9969 ensembl_gene_idENSG00000035928 coords_grch38chr4:39287455-39366400 coords_grch37chr4:39289076-39367995 entrez_id5981 omim_gene102579 uniprot_idsP35251 refseq_accessionNM_002913 mane_refseqNM_002913.5 mane_ensemblENST00000349703.7 |
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| RNF170 | ring finger protein 170 | 8p11.21 | — | — | Candidate | |||||||||||||||||||||||||||||||
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E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway.
Also involved in ITPR1 turnover in resting cells. Selectively inhibits the TLR3-triggered innate immune response by promoting the 'Lys-48'-linked polyubiquitination and degradation of TLR3External recordsHGNC:25358OMIM 614649gnomADUniProt Q96K19ClinVar P/LPOrphanetMANE NM_030954.4GENESIS discovery
All stored identifiershgnc_idHGNC:25358 ensembl_gene_idENSG00000120925 coords_grch38chr8:42849637-42897309 coords_grch37chr8:42704780-42752433 entrez_id81790 omim_gene614649 uniprot_idsQ96K19 refseq_accessionNM_030954 mane_refseqNM_030954.4 mane_ensemblENST00000527424.6 |
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| RTN2 | reticulon 2 | 19q13.32 | — | — | Candidate | |||||||||||||||||||||||||||||||
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Inhibits amyloid precursor protein processing, probably by blocking BACE1 activity.
Enhances trafficking of the glutamate transporter SLC1A1/EAAC1 from the endoplasmic reticulum to the cell surface (By similarity). Plays a role in the translocation of SLC2A4/GLUT4 from intracellular membranes to the cell membrane which facilitates the uptake of glucose into the cell (By similarity)External recordsHGNC:10468OMIM 603183gnomADUniProt O75298ClinVar P/LPOrphanetMANE NM_005619.5GENESIS discovery
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All stored identifiershgnc_idHGNC:10468 ensembl_gene_idENSG00000125744 coords_grch38chr19:45485292-45497055 coords_grch37chr19:45988547-46000319 entrez_id6253 omim_gene603183 uniprot_idsO75298 refseq_accessionNM_005619 mane_refseqNM_005619.5 mane_ensemblENST00000245923.9 |
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| SACS | sacsin molecular chaperone | 13q12.12 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins Source: UniProt
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All stored identifiershgnc_idHGNC:10519 ensembl_gene_idENSG00000151835 coords_grch38chr13:23288689-23433763 coords_grch37chr13:23902965-24007841 entrez_id26278 omim_gene604490 uniprot_idsQ9NZJ4 refseq_accessionNM_014363 mane_refseqNM_014363.6 mane_ensemblENST00000382292.9 |
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| SARS1 | seryl-tRNA synthetase 1 | 1p13.3 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Catalyzes the attachment of serine to tRNA(Ser) in a two-step reaction: serine is first activated by ATP to form Ser-AMP and then transferred to the acceptor end of tRNA(Ser).
Is probably also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec). In the nucleus, binds to the VEGFA core promoter and prevents MYC binding and transcriptional activation by MYC. Recruits SIRT2 to the VEGFA promoter, promoting deacetylation of histone H4 at 'Lys-16' (H4K16). Thereby, inhibits the production of VEGFA and sprouting angiogenesis mediated by VEGFAEvidencePanelApp Green
All stored identifiershgnc_idHGNC:10537 ensembl_gene_idENSG00000031698 coords_grch38chr1:109213844-109239456 coords_grch37chr1:109756540-109780791 entrez_id6301 omim_gene607529 uniprot_idsP49591 refseq_accessionNM_006513 mane_refseqNM_006513.4 mane_ensemblENST00000234677.7 |
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| SBF1 | SET binding factor 1 | 22q13.33 | AR | 1 | CMT4 | |||||||||||||||||||||||||||||||
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Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location.
Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May function as a guanine nucleotide exchange factor (GEF) activating RAB28. Acts as a suppressor of autophagy in neurons. Together with its binding partner, the phosphatase MTMR2, plays a role in dephosphorylation of phosphoinositides critical for autophagy initiation and autophagosome maturation. Plays a role in positively regulating late-stage radial sorting of large caliber axons, a process leading to myelination by Schwann cells, possibly via regulating endosomal trafficking (By similarity). Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblastsExternal recordsHGNC:10542OMIM 603560gnomADUniProt O95248ClinGenClinVar P/LPOrphanetMANE NM_002972.4
All stored identifiershgnc_idHGNC:10542 ensembl_gene_idENSG00000100241 coords_grch38chr22:50443219-50483923 coords_grch37chr22:50883429-50913454 entrez_id6305 omim_gene603560 uniprot_idsO95248 refseq_accessionNM_001365819 mane_refseqNM_002972.4 mane_ensemblENST00000380817.8 |
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| SBF2 | SET binding factor 2 | 11p15.4 | AR | 1 | CMT4 | |||||||||||||||||||||||||||||||
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Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28.
Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion. Acts as an adapter for the phosphatase MTMR2 (By similarity). Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate (By similarity)
All stored identifiershgnc_idHGNC:2135 ensembl_gene_idENSG00000133812 coords_grch38chr11:9776776-10304877 coords_grch37chr11:9800214-10315754 entrez_id81846 omim_gene607697 uniprot_idsQ86WG5 refseq_accessionNM_030962 mane_refseqNM_030962.4 mane_ensemblENST00000256190.13 |
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| SCN11A | sodium voltage-gated channel alpha subunit 11 | 3p22.2 | AD | 1 | HSAN | |||||||||||||||||||||||||||||||
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Sodium channel mediating the voltage-dependent sodium ion permeability of excitable membranes.
Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Involved in membrane depolarization during action potential in nociceptors which function as key relay stations for the electrical transmission of pain signals from the periphery to the central nervous system. Also involved in rapid BDNF-evoked neuronal depolarizationExternal recordsHGNC:10583OMIM 604385gnomADUniProt Q9UI33ClinGenClinVar P/LPOrphanetMANE NM_001349253.2
All stored identifiershgnc_idHGNC:10583 ensembl_gene_idENSG00000168356 coords_grch38chr3:38845758-39052157 coords_grch37chr3:38887260-38992052 entrez_id11280 omim_gene604385 uniprot_idsQ9UI33 refseq_accessionNM_014139 mane_refseqNM_001349253.2 mane_ensemblENST00000302328.9 |
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| SCN9A | sodium voltage-gated channel alpha subunit 9 | 2q24.3 | AR | 1 | HSAN | |||||||||||||||||||||||||||||||
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Pore-forming subunit of Nav1.7, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes.
Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na(+) ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues. Nav1.7 plays a crucial role in controlling the excitability and action potential propagation from nociceptor neurons, thereby contributing to the sensory perception of painExternal recordsHGNC:10597OMIM 603415gnomADUniProt Q15858ClinVar P/LPGeneReviewsOrphanetMANE NM_001365536.1
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All stored identifiershgnc_idHGNC:10597 ensembl_gene_idENSG00000169432 coords_grch38chr2:166195185-166376001 coords_grch37chr2:167051695-167232503 entrez_id6335 omim_gene603415 uniprot_idsQ15858 refseq_accessionNM_002977 mane_refseqNM_001365536.1 mane_ensemblENST00000642356.2 |
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| SCO2 | synthesis of cytochrome C oxidase 2 | 22q13.33 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2); together with SCO1, facilitates the incorporation of copper into the Cu(A) site of MT-CO2/COX2.
Could also act as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2External recordsHGNC:10604OMIM 604272gnomADUniProt O43819ClinGenClinVar P/LPOrphanetMANE NM_005138.3GENESIS discovery
All stored identifiershgnc_idHGNC:10604 ensembl_gene_idENSG00000284194 coords_grch38chr22:50523564-50526461 coords_grch37chr22:50961997-50964868 entrez_id9997 omim_gene604272 uniprot_idsO43819 refseq_accessionNM_005138 mane_refseqNM_005138.3 mane_ensemblENST00000395693.8 |
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| SCYL1 | SCY1 like pseudokinase 1 | 11q13.1 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Regulates COPI-mediated retrograde protein traffic at the interface between the Golgi apparatus and the endoplasmic reticulum.
Involved in the maintenance of the Golgi apparatus morphologyExternal recordsHGNC:14372OMIM 607982gnomADUniProt Q96KG9ClinVar P/LPOrphanetMANE NM_020680.4GENESIS discovery
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All stored identifiershgnc_idHGNC:14372 ensembl_gene_idENSG00000142186 coords_grch38chr11:65525044-65538711 coords_grch37chr11:65292548-65306175 entrez_id57410 omim_gene607982 uniprot_idsQ96KG9 refseq_accessionNM_020680 mane_refseqNM_020680.4 mane_ensemblENST00000270176.10 |
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| SEPTIN9 | septin 9 | 17q25.3 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Filament-forming cytoskeletal GTPase (By similarity).
May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneriExternal recordsHGNC:7323OMIM 604061gnomADUniProt Q9UHD8ClinGenClinVar P/LPOrphanetMANE NM_001113491.2
All stored identifiershgnc_idHGNC:7323 ensembl_gene_idENSG00000184640 coords_grch38chr17:77280569-77500596 coords_grch37chr17:75276651-75496678 entrez_id10801 omim_gene604061 uniprot_idsQ9UHD8 refseq_accessionNM_006640 mane_refseqNM_001113491.2 mane_ensemblENST00000427177.6 |
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| SETX | senataxin | 9q34.13 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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ATP-dependent 5'-3' helicase that preferentially unwinds RNA:DNA substrates over DNA:DNA substrates, playing a crucial role in resolving 5'-overhang RNA:DNA hybrids (R-loops) and promoting transcription termination.
Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription. Contributes to the mRNA splicing efficiency and splice site selection. Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination. Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress. In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage. Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription. Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis
All stored identifiershgnc_idHGNC:445 ensembl_gene_idENSG00000107290 coords_grch38chr9:132261356-132355117 coords_grch37chr9:135136743-135230372 entrez_id23064 omim_gene608465 uniprot_idsQ7Z333 refseq_accessionNM_015046 mane_refseqNM_015046.7 mane_ensemblENST00000224140.6 |
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| SGPL1 | sphingosine-1-phosphate lyase 1 | 10q22.1 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine.
Elevates stress-induced ceramide production and apoptosis. Required for global lipid homeostasis in liver and cholesterol homeostasis in fibroblasts. Involved in the regulation of pro-inflammatory response and neutrophil trafficking. Modulates neuronal autophagy via phosphoethanolamine production which regulates accumulation of aggregate-prone proteins such as APP (By similarity). Seems to play a role in establishing neuronal contact sites and axonal maintenance (By similarity)
All stored identifiershgnc_idHGNC:10817 ensembl_gene_idENSG00000166224 coords_grch38chr10:70815899-70958721 coords_grch37chr10:72575717-72640930 entrez_id8879 omim_gene603729 uniprot_idsO95470 refseq_accessionNM_003901 mane_refseqNM_003901.4 mane_ensemblENST00000373202.8 |
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| SH3TC2 | SH3 domain and tetratricopeptide repeats 2 | 5q32 | AR | 1 | CMT4 | |||||||||||||||||||||||||||||||
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Is involved in nerve myelination and is required for the integrity of nodes of Ranvier (By similarity).
It probably functions as a Rab effector in the regulation of endocytic recyclingExternal recordsHGNC:29427OMIM 608206gnomADUniProt Q8TF17ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_024577.4
All stored identifiershgnc_idHGNC:29427 ensembl_gene_idENSG00000169247 coords_grch38chr5:148923639-149063163 coords_grch37chr5:148303202-148442726 entrez_id79628 omim_gene608206 uniprot_idsQ8TF17 refseq_accessionNM_024577 mane_refseqNM_024577.4 mane_ensemblENST00000515425.6 |
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| SIGMAR1 | sigma non-opioid intracellular receptor 1 | 9p13.3 | AR | 1 | dHMN/HMN | |||||||||||||||||||||||||||||||
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Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane.
Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role in several other cell functions including proliferation, survival and death. Originally identified for its ability to bind various psychoactive drugs it is involved in learning processes, memory and mood alteration. Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria. Plays a role in protecting cells against oxidative stress-induced cell death via its interaction with RNF112 (By similarity)External recordsHGNC:8157OMIM 601978gnomADUniProt Q99720ClinVar P/LPOrphanetMANE NM_005866.4GENESIS discovery
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All stored identifiershgnc_idHGNC:8157 ensembl_gene_idENSG00000147955 coords_grch38chr9:34631716-34637844 coords_grch37chr9:34634719-34637806 entrez_id10280 omim_gene601978 uniprot_idsQ99720 refseq_accessionNM_005866 mane_refseqNM_005866.4 mane_ensemblENST00000277010.9 |
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| SLC12A6 | solute carrier family 12 member 6 | 15q14 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Mediates electroneutral potassium-chloride cotransport when activated by cell swelling.
May contribute to cell volume homeostasis in single cellsEvidencePanelApp Green
All stored identifiershgnc_idHGNC:10914 ensembl_gene_idENSG00000140199 coords_grch38chr15:34229784-34338060 coords_grch37chr15:34525460-34630261 entrez_id9990 omim_gene604878 uniprot_idsQ9UHW9 refseq_accessionNM_005135 mane_refseqNM_001365088.1 mane_ensemblENST00000354181.8 |
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| SLC25A46 | solute carrier family 25 member 46 | 5q22.1 | AR | 1 | HMSN | |||||||||||||||||||||||||||||||
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Transmembrane protein of the mitochondrial outer membrane that controls mitochondrial organization.
May regulate the assembly of the MICOS (mitochondrial contact site and cristae organizing system) complex which is essential to the biogenesis and dynamics of mitochondrial cristae, the inwards folds of the inner mitochondrial membrane. Through its interaction with the EMC (endoplasmic reticulum membrane protein complex), could regulate mitochondrial lipid homeostasis and thereby mitochondrial fissionExternal recordsHGNC:25198OMIM 610826gnomADUniProt Q96AG3ClinGenClinVar P/LPOrphanetMANE NM_138773.4GENESIS discovery
All stored identifiershgnc_idHGNC:25198 ensembl_gene_idENSG00000164209 coords_grch38chr5:110738136-110765173 coords_grch37chr5:110073837-110100857 entrez_id91137 omim_gene610826 uniprot_idsQ96AG3 refseq_accessionNM_138773 mane_refseqNM_138773.4 mane_ensemblENST00000355943.8 |
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| SLC5A7 | solute carrier family 5 member 7 | 2q12.3 | AD | 1 | dHMN/HMN | |||||||||||||||||||||||||||||||
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High-affinity Na(+)-coupled choline transmembrane symporter.
Functions as an electrogenic, voltage-dependent transporter with variable charge/choline stoichiometry. Choline uptake and choline-induced current is also Cl(-)-dependent where Cl(-) is likely a regulatory ion rather than cotransported ion. Plays a critical role in acetylcholine (ACh) synthesis by taking up the substrate choline from the synaptic cleft into the presynaptic nerve terminals after neurotransmitter release. SLC5A7/CHT1-mediated choline high-affinity transport in cholinergic neurons is the rate-limiting step for production of ACh, thereby facilitating communication by subsequent action potentials. Localized predominantly in presynaptic terminal intracellular organelles, and translocated to the plasma membrane in active form in response to neuronal activityExternal recordsHGNC:14025OMIM 608761gnomADUniProt Q9GZV3ClinGenClinVar P/LPOrphanetMANE NM_021815.5
All stored identifiershgnc_idHGNC:14025 ensembl_gene_idENSG00000115665 coords_grch38chr2:107986516-108014213 coords_grch37chr2:108602979-108630450 entrez_id60482 omim_gene608761 uniprot_idsQ9GZV3 refseq_accessionNM_001305005 mane_refseqNM_021815.5 mane_ensemblENST00000264047.3 |
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| SORD | sorbitol dehydrogenase | 15q21.1 | AR | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Polyol dehydrogenase that catalyzes the reversible NAD(+)-dependent oxidation of various sugar alcohols.
Is mostly active with D-sorbitol (D-glucitol), L-threitol, xylitol and ribitol as substrates, leading to the C2-oxidized products D-fructose, L-erythrulose, D-xylulose, and D-ribulose, respectively. Is a key enzyme in the polyol pathway that interconverts glucose and fructose via sorbitol, which constitutes an important alternate route for glucose metabolism. The polyol pathway is believed to be involved in the etiology of diabetic complications, such as diabetic neuropathy and retinopathy, induced by hyperglycemia. May play a role in sperm motility by using sorbitol as an alternative energy source for sperm motility. May have a more general function in the metabolism of secondary alcohols since it also catalyzes the stereospecific oxidation of (2R,3R)-2,3-butanediol. To a lesser extent, can also oxidize L-arabinitol, galactitol and D-mannitol and glycerol in vitro. Oxidizes neither ethanol nor other primary alcohols. Cannot use NADP(+) as the electron acceptorExternal recordsHGNC:11184OMIM 182500gnomADUniProt Q00796ClinGenClinVar P/LPOrphanetMANE NM_003104.6GENESIS discovery
All stored identifiershgnc_idHGNC:11184 ensembl_gene_idENSG00000140263 coords_grch38chr15:45023116-45077185 coords_grch37chr15:45315302-45369383 entrez_id6652 omim_gene182500 uniprot_idsQ00796 refseq_accessionNM_003104 mane_refseqNM_003104.6 mane_ensemblENST00000267814.14 |
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| SPAST | spastin | 2p22.3 | — | — | Candidate | |||||||||||||||||||||||||||||||
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ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated.
Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Severing activity is not dependent on tubulin acetylation or detyrosination. Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. It is critical for the biogenesis and maintenance of complex microtubule arrays in axons, spindles and cilia. SPAST is involved in abscission step of cytokinesis and nuclear envelope reassembly during anaphase in cooperation with the ESCRT-III complex. Recruited at the midbody, probably by IST1, and participates in membrane fission during abscission together with the ESCRT-III complex. Recruited to the nuclear membrane by IST1 and mediates microtubule severing, promoting nuclear envelope sealing and mitotic spindle disassembly during late anaphase. Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and endosome recycling. Recruited by IST1 to endosomes and regulates early endosomal tubulation and recycling by mediating microtubule severing. Probably plays a role in axon growth and the formation of axonal branches
All stored identifiershgnc_idHGNC:11233 ensembl_gene_idENSG00000021574 coords_grch38chr2:32063525-32157637 coords_grch37chr2:32288680-32382706 entrez_id6683 omim_gene604277 uniprot_idsQ9UBP0 refseq_accessionNM_199436 mane_refseqNM_014946.4 mane_ensemblENST00000315285.9 |
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| SPG11 | SPG11 vesicle trafficking associated, spatacsin | 15q21.1 | AR | 1 | CMT2 | |||||||||||||||||||||||||||||||
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May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport Source: UniProt
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All stored identifiershgnc_idHGNC:11226 ensembl_gene_idENSG00000104133 coords_grch38chr15:44554436-44663688 coords_grch37chr15:44854894-44955876 entrez_id80208 omim_gene610844 uniprot_idsQ96JI7 refseq_accessionNM_001160227 mane_refseqNM_025137.4 mane_ensemblENST00000261866.12 |
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| SPTBN4 | spectrin beta, non-erythrocytic 4 | 19q13.2 | — | — | Candidate | |||||||||||||||||||||||||||||||
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All stored identifiershgnc_idHGNC:14896 ensembl_gene_idENSG00000160460 coords_grch38chr19:40466241-40576464 coords_grch37chr19:40972148-41082370 entrez_id57731 omim_gene606214 uniprot_idsQ9H254 refseq_accessionNM_020971 mane_refseqNM_020971.3 mane_ensemblENST00000598249.6 |
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| SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | 9q22.31 | AD | 2 | HSANHSN | |||||||||||||||||||||||||||||||
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Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain bases.
The SPT complex is also composed of SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. Within this complex, the heterodimer with SPTLC2 or SPTLC3 forms the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. Required for adipocyte cell viability and metabolic homeostasis (By similarity)External recordsHGNC:11277OMIM 605712gnomADUniProt O15269ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_006415.4
All stored identifiershgnc_idHGNC:11277 ensembl_gene_idENSG00000090054 coords_grch38chr9:92000087-92115491 coords_grch37chr9:94794281-94877666 entrez_id10558 omim_gene605712 uniprot_idsO15269 refseq_accessionNM_006415 mane_refseqNM_006415.4 mane_ensemblENST00000262554.7 |
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| SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | 14q24.3 | AD | 2 | HSANHSN | |||||||||||||||||||||||||||||||
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Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain bases.
The SPT complex is composed of SPTLC1, SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. Within this complex, the heterodimer consisting of SPTLC1 and SPTLC2/SPTLC3 forms the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. Crucial for adipogenesis (By similarity)External recordsHGNC:11278OMIM 605713gnomADUniProt O15270ClinGenClinVar P/LPOrphanetMANE NM_004863.4
All stored identifiershgnc_idHGNC:11278 ensembl_gene_idENSG00000100596 coords_grch38chr14:77505997-77616781 coords_grch37chr14:77972340-78083116 entrez_id9517 omim_gene605713 uniprot_idsO15270 refseq_accessionNM_004863 mane_refseqNM_004863.4 mane_ensemblENST00000216484.7 |
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| SURF1 | SURF1 cytochrome c oxidase assembly factor | 9q34.2 | AR | 1 | CMT4 | |||||||||||||||||||||||||||||||
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Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly Source: UniProt
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All stored identifiershgnc_idHGNC:11474 ensembl_gene_idENSG00000148290 coords_grch38chr9:133351069-133356676 coords_grch37chr9:136218610-136223552 entrez_id6834 omim_gene185620 uniprot_idsQ15526 refseq_accessionNM_003172 mane_refseqNM_003172.4 mane_ensemblENST00000371974.8 |
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| SYT2 | synaptotagmin 2 | 1q32.1 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Exhibits calcium-dependent phospholipid and inositol polyphosphate binding properties (By similarity).
May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). Plays a role in dendrite formation by melanocytesExternal recordsHGNC:11510OMIM 600104gnomADUniProt Q8N9I0ClinGenClinVar P/LPOrphanetMANE NM_177402.5GENESIS discovery
All stored identifiershgnc_idHGNC:11510 ensembl_gene_idENSG00000143858 coords_grch38chr1:202590596-202710526 coords_grch37chr1:202559724-202679545 entrez_id127833 omim_gene600104 uniprot_idsQ8N9I0 refseq_accessionNM_177402 mane_refseqNM_177402.5 mane_ensemblENST00000367268.5 |
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| TECPR2 | tectonin beta-propeller repeat containing 2 | 14q32.33 | AR | 1 | HSAN | |||||||||||||||||||||||||||||||
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Probably plays a role as positive regulator of autophagy Source: UniProt
External recordsHGNC:19957OMIM 615000gnomADUniProt O15040ClinVar P/LPGeneReviewsOrphanetMANE NM_014844.5
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All stored identifiershgnc_idHGNC:19957 ensembl_gene_idENSG00000196663 coords_grch38chr14:102362933-102502477 coords_grch37chr14:102829300-102968818 entrez_id9895 omim_gene615000 uniprot_idsO15040 refseq_accessionNM_014844 mane_refseqNM_014844.5 mane_ensemblENST00000359520.12 |
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| TFG | trafficking from ER to golgi regulator | 3q12.2 | AD | 1 | HMSN | |||||||||||||||||||||||||||||||
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Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules.
Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatusEvidencePanelApp Green
All stored identifiershgnc_idHGNC:11758 ensembl_gene_idENSG00000114354 coords_grch38chr3:100709295-100793279 coords_grch37chr3:100428205-100467810 entrez_id10342 omim_gene602498 uniprot_idsQ92734 refseq_accessionNM_006070 mane_refseqNM_006070.6 mane_ensemblENST00000240851.9 |
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| TRIM2 | tripartite motif containing 2 | 4q31.3 | AR | 1 | CMT2 | |||||||||||||||||||||||||||||||
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UBE2D1-dependent E3 ubiquitin-protein ligase that mediates the ubiquitination of NEFL and of phosphorylated BCL2L11.
Plays a neuroprotective function. May play a role in neuronal rapid ischemic tolerance. Plays a role in antiviral immunity and limits New World arenavirus infection independently of its ubiquitin ligase activityEvidencePanelApp Green
All stored identifiershgnc_idHGNC:15974 ensembl_gene_idENSG00000109654 coords_grch38chr4:153152163-153339319 coords_grch37chr4:154073494-154260472 entrez_id23321 omim_gene614141 uniprot_idsQ9C040 refseq_accessionNM_001130067 mane_refseqNM_015271.5 mane_ensemblENST00000338700.10 |
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| TRPV4 | transient receptor potential cation channel subfamily V member 4 | 12q24.11 | AD, AR | 2 | CMT2dHMN/HMN | |||||||||||||||||||||||||||||||
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Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity.
Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by heat, low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism. Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes. Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8. Together with PKD2, forms mechano- and thermosensitive channels in cilium. Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to pro-inflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). Required for normal development and maintenance of bone and cartilage. In its inactive state, may sequester DDX3X at the plasma membrane. When activated, the interaction between both proteins is affected and DDX3X relocalizes to the nucleus. In neurons of the central nervous system, could play a role in triggering voluntary water intake in response to increased sodium concentration in body fluid (By similarity)External recordsHGNC:18083OMIM 605427gnomADUniProt Q9HBA0ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_021625.5
All stored identifiershgnc_idHGNC:18083 ensembl_gene_idENSG00000111199 coords_grch38chr12:109783087-109833542 coords_grch37chr12:110220890-110271212 entrez_id59341 omim_gene605427 uniprot_idsQ9HBA0 refseq_accessionNM_021625 mane_refseqNM_021625.5 mane_ensemblENST00000261740.7 |
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| TUBB3 | tubulin beta 3 class III | 16q24.3 | AD | 1 | Unclassified | |||||||||||||||||||||||||||||||
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Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers.
Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, alpha-beta tubulin heterodimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. TUBB3 plays a critical role in proper axon guidance and maintenance. Binding of NTN1/Netrin-1 to its receptor UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion. Plays a role in dorsal root ganglion axon projection towards the spinal cordEvidencePanelApp Green
All stored identifiershgnc_idHGNC:20772 ensembl_gene_idENSG00000258947 coords_grch38chr16:89921392-89938761 coords_grch37chr16:89985573-90002500 entrez_id10381 omim_gene602661 uniprot_idsQ13509 refseq_accessionNM_006086 mane_refseqNM_006086.4 mane_ensemblENST00000315491.12 |
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| UBA1 | ubiquitin like modifier activating enzyme 1 | Xp11.3 | XLR | 1 | dSMA | |||||||||||||||||||||||||||||||
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Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system.
Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sitesExternal recordsHGNC:12469OMIM 314370gnomADUniProt P22314ClinVar P/LPGeneReviewsOrphanetMANE NM_003334.4
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All stored identifiershgnc_idHGNC:12469 ensembl_gene_idENSG00000130985 coords_grch38chrX:47190713-47215173 coords_grch37chrX:47050260-47074527 entrez_id7317 omim_gene314370 uniprot_idsP22314 refseq_accessionNM_003334 mane_refseqNM_003334.4 mane_ensemblENST00000335972.11 |
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| UBE3C | ubiquitin protein ligase E3C | 7q36.3 | AD | 1 | dHMN/HMN | |||||||||||||||||||||||||||||||
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E3 ubiquitin-protein ligase that specifically catalyzes 'Lys-29'- and 'Lys-48'-linked polyubiquitin chains.
Accepts ubiquitin from the E2 ubiquitin-conjugating enzyme UBE2D1 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Associates with the proteasome and promotes elongation of ubiquitin chains on substrates bound to the 26S proteasome. Also catalyzes 'Lys-29'- and 'Lys-48'-linked ubiquitination of 26S proteasome subunit ADRM1/RPN13 in response to proteotoxic stress, impairing the ability of the proteasome to bind and degrade ubiquitin-conjugated proteins. Acts as a negative regulator of autophagy by mediating 'Lys-29'- and 'Lys-48'-linked ubiquitination of PIK3C3/VPS34, promoting its degradation. Can assemble unanchored poly-ubiquitin chains in either 'Lys-29'- or 'Lys-48'-linked polyubiquitin chains; with some preference for 'Lys-48' linkages. Acts as a negative regulator of type I interferon by mediating 'Lys-48'-linked ubiquitination of IRF3 and IRF7, leading to their degradation by the proteasome. Catalyzes ubiquitination and degradation of CAND2
All stored identifiershgnc_idHGNC:16803 ensembl_gene_idENSG00000009335 coords_grch38chr7:157138908-157269372 coords_grch37chr7:156931607-157062066 entrez_id9690 omim_gene614454 uniprot_idsQ15386 refseq_accessionNM_014671 mane_refseqNM_014671.3 mane_ensemblENST00000348165.10 |
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| VCP | valosin containing protein | 9p13.3 | AD | 1 | CMT2 | |||||||||||||||||||||||||||||||
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Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis.
Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm transition vesicles which derive from part-rough, part-smooth transitional elements of the endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. Regulates E3 ubiquitin-protein ligase activity of RNF19A. Component of the VCP/p97-AMFR/gp78 complex that participates in the final step of the sterol-mediated ubiquitination and endoplasmic reticulum-associated degradation (ERAD) of HMGCR. Mediates the endoplasmic reticulum-associated degradation of CHRNA3 in cortical neurons as part of the STUB1-VCP-UBXN2A complex. Involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation. Involved in clearance process by mediating G3BP1 extraction from stress granules. Also involved in DNA damage response: recruited to double-strand breaks (DSBs) sites in a RNF8- and RNF168-dependent manner and promotes the recruitment of TP53BP1 at DNA damage sites. Recruited to stalled replication forks by SPRTN: may act by mediating extraction of DNA polymerase eta (POLH) to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage. Together with SPRTN metalloprotease, involved in the repair of covalent DNA-protein cross-links (DPCs) during DNA synthesis. Involved in interstrand cross-link repair in response to replication stress by mediating unloading of the ubiquitinated CMG helicase complex (By similarity). Mediates extraction of PARP1 trapped to chromatin: recognizes and binds ubiquitinated PARP1 and promotes its removal. Required for cytoplasmic retrotranslocation of stressed/damaged mitochondrial outer-membrane proteins and their subsequent proteasomal degradation. Essential for the maturation of ubiquitin-containing autophagosomes and the clearance of ubiquitinated protein by autophagy. Acts as a negative regulator of type I interferon production by interacting with RIGI: interaction takes place when RIGI is ubiquitinated via 'Lys-63'-linked ubiquitin on its CARD domains, leading to recruit RNF125 and promote ubiquitination and degradation of RIGI. May play a role in the ubiquitin-dependent sorting of membrane proteins to lysosomes where they undergo degradation. May more particularly play a role in caveolins sorting in cells. By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathwayExternal recordsHGNC:12666OMIM 601023gnomADUniProt P55072ClinVar P/LPOrphanetMANE NM_007126.5GENESIS discovery
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All stored identifiershgnc_idHGNC:12666 ensembl_gene_idENSG00000165280 coords_grch38chr9:35053928-35072725 coords_grch37chr9:35056061-35073246 entrez_id7415 omim_gene601023 uniprot_idsP55072 refseq_accessionNM_007126 mane_refseqNM_007126.5 mane_ensemblENST00000358901.11 |
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| VRK1 | VRK serine/threonine kinase 1 | 14q32.2 | AR | 1 | dSMA | |||||||||||||||||||||||||||||||
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Serine/threonine kinase involved in the regulation of key cellular processes including the cell cycle, nuclear condensation, transcription regulation, and DNA damage response.
Controls chromatin organization and remodeling by mediating phosphorylation of histone H3 on 'Thr-4' and histone H2AX (H2aXT4ph). It also phosphorylates KAT5 in response to DNA damage, promoting KAT5 association with chromatin and histone acetyltransferase activity. Is involved in the regulation of cell cycle progression of neural progenitors, and is required for proper cortical neuronal migration (By similarity). Is involved in neurite elongation and branching in motor neurons, and has an essential role in Cajal bodies assembly, acting through COIL phosphorylation and the control of coilin degradation. Involved in Golgi disassembly during the cell cycle: following phosphorylation by PLK3 during mitosis, it is required to induce Golgi fragmentation. Phosphorylates BANF1: disrupts its ability to bind DNA, reduces its binding to LEM domain-containing proteins and causes its relocalization from the nucleus to the cytoplasm. Phosphorylates TP53BP1 and p53/TP53 on 'Thr-18', preventing the interaction between p53/TP53 and MDM2. Phosphorylates ATF2 which activates its transcriptional activity. Phosphorylates JUNEvidencePanelApp Green
All stored identifiershgnc_idHGNC:12718 ensembl_gene_idENSG00000100749 coords_grch38chr14:96797304-96954846 coords_grch37chr14:97263641-97398059 entrez_id7443 omim_gene602168 uniprot_idsQ99986 refseq_accessionNM_003384 mane_refseqNM_003384.3 mane_ensemblENST00000216639.8 |
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| VWA1 | von Willebrand factor A domain containing 1 | 1p36.33 | AR | 1 | dHMN/HMN | |||||||||||||||||||||||||||||||
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Promotes matrix assembly (By similarity).
Involved in the organization of skeletal muscles and in the formation of neuromuscular junctions (Probable)EvidencePanelApp Green
All stored identifiershgnc_idHGNC:30910 ensembl_gene_idENSG00000179403 coords_grch38chr1:1434861-1446012 coords_grch37chr1:1370241-1378262 entrez_id64856 omim_gene611901 uniprot_idsQ6PCB0 refseq_accessionNM_022834 mane_refseqNM_022834.5 mane_ensemblENST00000476993.2 |
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| WARS1 | tryptophanyl-tRNA synthetase 1 | 14q32.2 | AD | 1 | dHMN/HMN | |||||||||||||||||||||||||||||||
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Catalyzes the attachment of tryptophan to tRNA(Trp) in a two-step reaction: tryptophan is first activated by ATP to form Trp-AMP and then transferred to the acceptor end of the tRNA(Trp) Source: UniProt
External recordsHGNC:12729OMIM 191050gnomADUniProt P23381ClinGenClinVar P/LPOrphanetMANE NM_004184.4GENESIS discovery
All stored identifiershgnc_idHGNC:12729 ensembl_gene_idENSG00000140105 coords_grch38chr14:100333782-100376805 coords_grch37chr14:100800125-100843142 entrez_id7453 omim_gene191050 uniprot_idsP23381 refseq_accessionNM_004184 mane_refseqNM_004184.4 mane_ensemblENST00000392882.7 |
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| WNK1 | WNK lysine deficient protein kinase 1 | 12p13.33 | AR | 2 | HSANHSN | |||||||||||||||||||||||||||||||
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Serine/threonine-protein kinase component of the WNK1-SPAK/OSR1 kinase cascade, which acts as a key regulator of blood pressure and regulatory volume increase by promoting ion influx.
WNK1 mediates regulatory volume increase in response to hyperosmotic stress by acting as a molecular crowding sensor, which senses cell shrinkage and mediates formation of a membraneless compartment by undergoing liquid-liquid phase separation. The membraneless compartment concentrates WNK1 with its substrates, OXSR1/OSR1 and STK39/SPAK, promoting WNK1-dependent phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK. Following activation, OXSR1/OSR1 and STK39/SPAK catalyze phosphorylation of ion cotransporters SLC12A1/NKCC2, SLC12A2/NKCC1, SLC12A5/KCC2 and SLC12A6/KCC3, regulating their activity. Phosphorylation of Na-K-Cl cotransporters SLC12A2/NKCC1 and SLC12A2/NKCC1 promote their activation and ion influx; simultaneously, phosphorylation of K-Cl cotransporters SLC12A5/KCC2 and SLC12A6/KCC3 inhibit their activity, blocking ion efflux. Also acts as a regulator of angiogenesis in endothelial cells via activation of OXSR1/OSR1 and STK39/SPAK: activation of OXSR1/OSR1 regulates chemotaxis and invasion, while STK39/SPAK regulates endothelial cell proliferation. Also acts independently of the WNK1-SPAK/OSR1 kinase cascade by catalyzing phosphorylation of other substrates, such as SYT2, PCF11 and NEDD4L. Mediates phosphorylation of SYT2, regulating SYT2 association with phospholipids and membrane-binding (By similarity). Regulates mRNA export in the nucleus by mediating phosphorylation of PCF11, thereby decreasing the association between PCF11 and POLR2A/RNA polymerase II and promoting mRNA export to the cytoplasm. Acts as a negative regulator of autophagy. Required for the abscission step during mitosis, independently of the WNK1-SPAK/OSR1 kinase cascade. May also play a role in actin cytoskeletal reorganization. Also acts as a scaffold protein independently of its protein kinase activity: negatively regulates cell membrane localization of various transporters and channels, such as SLC4A4, SLC26A6, SLC26A9, TRPV4 and CFTR (By similarity). Involved in the regulation of epithelial Na(+) channel (ENaC) by promoting activation of SGK1 in a kinase-independent manner: probably acts as a scaffold protein that promotes the recruitment of SGK1 to the mTORC2 complex in response to chloride, leading to mTORC2-dependent phosphorylation and activation of SGK1. Acts as an assembly factor for the ER membrane protein complex independently of its protein kinase activity: associates with EMC2 in the cytoplasm via its amphipathic alpha-helix, and prevents EMC2 ubiquitination and subsequent degradation, thereby promoting EMC2 stabilizationExternal recordsHGNC:14540OMIM 605232gnomADUniProt Q9H4A3ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_018979.4
All stored identifiershgnc_idHGNC:14540 ensembl_gene_idENSG00000060237 coords_grch38chr12:752536-911452 coords_grch37chr12:861759-1020618 entrez_id65125 omim_gene605232 uniprot_idsQ9H4A3 refseq_accessionNM_018979 mane_refseqNM_018979.4 mane_ensemblENST00000315939.11 |
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| YARS1 | tyrosyl-tRNA synthetase 1 | 1p35.1 | AD | 1 | CMTDI | |||||||||||||||||||||||||||||||
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Tyrosine–tRNA ligase that catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr) (Probable).
Also acts as a positive regulator of poly-ADP-ribosylation in the nucleus, independently of its tyrosine–tRNA ligase activity. Activity is switched upon resveratrol-binding: resveratrol strongly inhibits the tyrosine–tRNA ligase activity and promotes relocalization to the nucleus, where YARS1 specifically stimulates the poly-ADP-ribosyltransferase activity of PARP1External recordsHGNC:12840OMIM 603623gnomADUniProt P54577ClinGenClinVar P/LPOrphanetMANE NM_003680.4
All stored identifiershgnc_idHGNC:12840 ensembl_gene_idENSG00000134684 coords_grch38chr1:32774776-32818031 coords_grch37chr1:33240840-33283754 entrez_id8565 omim_gene603623 uniprot_idsP54577 refseq_accessionNM_003680 mane_refseqNM_003680.4 mane_ensemblENST00000373477.9 |
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| No genes match. | ||||||||||||||||||||||||||||||||||||
Sources
Records referenced in the CMT Gene Browser are drawn from HGNC (gene nomenclature), MANE (reference transcripts), UniProt (protein annotations), ClinVar (variant classifications), ClinGen (gene-disease validity and dosage sensitivity classifications), gnomAD (population frequency and constraint), OMIM (record identifiers only), Genomics England PanelApp (panel and entity identifiers only), and the Genesis Project Foundation (discovery attributions). Source data for this release was obtained on August 2, 2026.
The GENESIS discovery flag carried by certain gene records indicates that the gene-disease association was identified through work conducted on the GENESIS platform, as published by the Genesis Project Foundation. No GENESIS platform data is included in the CMT Gene Browser.
ClinGen
Curated content was obtained from the Clinical Genome Resource: Gene-Disease Validity classifications and Gene Dosage Sensitivity classifications, accessed August 2, 2026. ClinGen itself recommends citation of its marker paper and, for work focused on its curation activities, the later ClinGen Consortium paper.
- Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS. ClinGen: the Clinical Genome Resource. New England Journal of Medicine. 2015;372(23):2235-2242. doi: 10.1056/NEJMsr1406261
- ClinGen Consortium. The Clinical Genome Resource (ClinGen): advancing genomic knowledge through global curation. Genetics in Medicine. 2025;27(1):101228. doi: 10.1016/j.gim.2024.101228
ClinVar
- Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W, Karapetyan K, Katz K, Liu C, Maddipatla Z, Malheiro A, McDaniel K, Ovetsky M, Riley G, Zhou G, Holmes JB, Kattman BL, Maglott DR. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Research. 2018;46(D1):D1062-D1067. doi: 10.1093/nar/gkx1153
Ensembl
- Dyer SC, Austine-Orimoloye O, Azov AG, Barba M, Barnes I, Barrera-Enriquez VP, Becker A, Bennett R, Beracochea M, Berry A, et al. Ensembl 2025. Nucleic Acids Research. 2025;53(D1):D948-D957. doi: 10.1093/nar/gkae1071
Genesis Project Foundation
- Genesis Project Foundation. Discoveries. https://tgp-foundation.org/d-i-s-c-o-v-e-r-i-e-s
- Gonzalez M, Falk MJ, Gai X, Postrel R, Schüle R, Züchner S. Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform. Human Mutation. 2015;36(10):950-956. doi: 10.1002/humu.22836
gnomAD
- Chen S, Francioli LC, Goodrich JK, et al.; Genome Aggregation Database Consortium. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024;625(7993):92-100. doi: 10.1038/s41586-023-06045-0
- Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434-443. doi: 10.1038/s41586-020-2308-7
HGNC
- Seal RL, Braschi B, Gray K, McClay J, Tweedie S, Bruford EA. Genenames.org: the HGNC and PGNC resources in 2026. Nucleic Acids Research. 2026;54(D1):D1098-D1107. doi: 10.1093/nar/gkaf1229
- HGNC Database, HUGO Gene Nomenclature Committee (HGNC), Department of Haematology, University of Cambridge, School of Clinical Medicine, Cambridge CB2 0PT, United Kingdom. Data retrieved August 2026.
MANE
- Morales J, Pujar S, Loveland JE, et al. A joint NCBI and EMBL-EBI transcript set for clinical genomics and research. Nature. 2022;604(7905):310-315. doi: 10.1038/s41586-022-04558-8
MONDO
- Vasilevsky NA, Matentzoglu NA, Toro S, Flack JE, Hegde H, Unni DR, Alyea GF, Amberger JS, Babb L, Balhoff JP, et al. Mondo: Unifying diseases for the world, by the world. medRxiv. 2022. doi:10.1101/2022.04.13.22273750
OMIM
- Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Research. 2015;43(D1):D789-D798. doi: 10.1093/nar/gku1205
PanelApp
- Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, Leong IUS, Smith KR, Gerasimenko O, Haraldsdottir E, Thomas E, Scott RH, Baple E, Tucci A, Brittain H, de Burca A, Ibañez K, Kasperaviciute D, Smedley D, Caulfield M, Rendon A, McDonagh EM. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nature Genetics. 2019;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2
UniProt
- The UniProt Consortium. UniProt: the Universal Protein Knowledgebase in 2025. Nucleic Acids Research. 2025;53(D1):D609-D617. doi: 10.1093/nar/gkae1010
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