ARHGDIA
Chr 17ARRho GDP dissociation inhibitor alpha
Also known as: GDIA1, HEL-S-47e, NPHS8, RHOGDI, RHOGDI-1
The protein encoded by this gene controls Rho GTPase homeostasis by inhibiting GDP dissociation and maintaining these signaling molecules in an inactive cytosolic pool. Mutations cause autosomal recessive nephrotic syndrome type 8, affecting kidney function. The gene shows relatively low constraint to loss-of-function mutations (pLI 0.036, LOEUF 0.87).
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
ARHGDIA · 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