ARHGAP42
Chr 11Rho GTPase activating protein 42
Also known as: AD031, GRAF3, TMEM133
This gene encodes a Rho GTPase-activating protein that inhibits RhoA activity in vascular smooth muscle cells to regulate vascular tone and blood pressure. The gene is highly constrained against loss-of-function variation (pLI=1.0, LOEUF=0.16), suggesting that mutations would likely cause severe developmental disorders, though specific pediatric phenotypes have not yet been established. Currently, only intronic variants affecting gene expression have been associated with blood pressure regulation in adults.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ARHGAP42 · 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