Gene Function

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) Source: UniProt

Relationship to CMT

Unclassified AD
1 subtype
11q13.5

First described 2016

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypeCMT-DGAT2	Inheritanceautosomal dominant	ClassUnclassified Subtypes	OMIMn/a	Sentinel Publication DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease 2016 · 10.1002/humu.22959

Stored Identifiers

No HGNC Aliases

hgnc_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

External recordsHGNC:16940OMIM 606983gnomADUniProt Q96PD7ClinVar P/LPOrphanetMANE NM_032564.5

ClinVar Variants

Pathogenic and likely pathogenic variants in DGAT2, as classified in ClinVar, are read live from NCBI. Only aggregate germline records are shown. 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.

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, one for a single submitter with criteria provided, and none where no criteria were provided.

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.

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