RAP1GAP2

Chr 17

RAP1 GTPase activating protein 2

Also known as: GARNL4, RAP1GA3

NCBI Gene: 23108 ENSG00000132359 UniProt: Q684P5

The protein is a GTPase-activating protein that inactivates RAP1A by converting it from GTP-bound to GDP-bound state and regulates platelet dense granule secretion at sites of vascular injury. Mutations cause autosomal dominant intellectual disability with variable features that may include developmental delay and neurological abnormalities. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

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

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

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