ARHGAP17
Chr 16Rho GTPase activating protein 17
Also known as: MST066, MST110, MSTP038, MSTP066, MSTP110, NADRIN, PP367, PP4534
RICH1 is a GTPase-activating protein that regulates CDC42 and other Rho family GTPases to maintain tight junctions and apical polarity in epithelial cells, and participates in calcium-dependent exocytosis. The gene is highly constrained against loss-of-function variants (LOEUF 0.442), suggesting intolerance to protein-disrupting mutations. No established Mendelian disease associations have been reported for ARHGAP17 mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ARHGAP17 · 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