UNC13B

Chr 9

unc-13 homolog B

Also known as: MUNC13, UNC13, Unc13h2, munc13-2

NCBI Gene: 10497 ENSG00000198722 UniProt: O14795

The UNC13B protein is essential for synaptic vesicle priming and maturation during neurotransmitter release, particularly at excitatory glutamatergic synapses. This gene is extremely intolerant to loss-of-function variants (LOEUF 0.586, pLI ~1.0), indicating that mutations are likely to cause severe developmental phenotypes. Pathogenic variants in UNC13B cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability and early-onset seizures.

ResearchSummary from RefSeq, UniProt

This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.59

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)