ARHGEF7

Chr 13

Rho guanine nucleotide exchange factor 7

Also known as: BETA-PIX, COOL-1, COOL1, Nbla10314, P50, P50BP, P85, P85COOL1

NCBI Gene: 8874 ENSG00000102606 UniProt: Q14155 OMIM: 605477

The protein acts as a RAC1 guanine nucleotide exchange factor that regulates cell migration, attachment, and synaptic development in hippocampal neurons. Mutations cause autosomal dominant intellectual disability with epilepsy and abnormal behavior, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.19), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]

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

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted