DOC2A

Chr 16

double C2 domain alpha

Also known as: Doc2

NCBI Gene: 8448 ENSG00000149927 UniProt: Q14183

DOC2A encodes a calcium sensor protein that regulates calcium-dependent neurotransmitter release by controlling vesicle fusion with membranes in neurons. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe seizures, developmental delay, and progressive neurodegeneration. The gene shows moderate constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.69

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)