CADPS2

Chr 7

calcium dependent secretion activator 2

Also known as: CAPS2

NCBI Gene: 93664 ENSG00000081803 UniProt: Q86UW7 OMIM: 609978

The protein regulates calcium-dependent exocytosis of neurotransmitter and neuropeptide-filled vesicles in neurons and neuroendocrine cells, and controls neurotrophin release during cerebellar development. Mutations cause autism spectrum disorder with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.34), indicating that haploinsufficiency is likely not well-tolerated.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

Multiple*

Mechanism· predicted