ARHGAP5

Chr 14

Rho GTPase activating protein 5

Also known as: GFI2, RhoGAP5, p190-B, p190BRhoGAP

NCBI Gene: 394 ENSG00000100852 UniProt: Q13017

Rho GTPase activating protein 5 inactivates Rho family GTPases by stimulating GTP hydrolysis, regulating cytoskeletal organization and cell shape changes. Mutations cause autosomal dominant intellectual disability with variable features including developmental delay and behavioral abnormalities. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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

0.26

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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