ARHGAP4
Chr XRho GTPase activating protein 4
Also known as: C1, RGC1, RhoGAP4, SrGAP4, p115
The protein functions as a GTPase-activating protein that regulates Rho family GTPases, particularly inhibiting stress fiber organization and may down-regulate Rho-like GTPases in hematopoietic cells. Genomic deletions involving this gene have been identified in patients with nephrogenic diabetes insipidus, though the specific contribution of ARHGAP4 to this phenotype requires further clarification. This gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.31), suggesting intolerance to protein-truncating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ARHGAP4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools