Relationship to CMT

SMA-LEP AD 2 subtypes 9q22.31

First described 2013

Subtypes2

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypeSMA-LEP-2A	Inheritanceautosomal dominant	ClassSMA-LEP	OMIM615290	Sentinel Publication Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy 2013 · 10.1016/j.ajhg.2013.04.011
SubtypeSMA-LEP-2B	Inheritanceautosomal dominant	ClassSMA-LEP	OMIM618291	Sentinel Publication In-frame De novo Mutation in BICD2 in Two Patients with Muscular Atrophy and Arthrogryposis 2018 · 10.1101/mcs.a003160

ClinVar Variants

Pathogenic and likely pathogenic variants in BICD2, as classified in ClinVar, are read live from NCBI.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

What the review stars mean

Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, and one for a single submitter with criteria provided. A record with no criteria provided earns no stars and is not indexed.

Only aggregate germline records are indexed. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.

View all BICD2 ClinVar Records

Gene Function

BICD2 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) Source: UniProt

Indexed Identifiers

No HGNC Aliases

hgnc_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

External recordsHGNC:17208OMIM 609797gnomADUniProt Q8TD16ClinVar P/LPOrphanetMANE NM_001003800.2GENESIS discovery

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