ARHGDIB
Chr 12Rho GDP dissociation inhibitor beta
Also known as: D4, GDIA2, GDID4, LYGDI, Ly-GDI, RAP1GN1, RhoGDI2
ARHGDIB encodes a GDP dissociation inhibitor that regulates Rho family GTPases by inhibiting GDP dissociation and subsequent GTP binding, thereby controlling actin cytoskeleton reorganization. The gene shows low constraint to loss-of-function variation (pLI 0.0006, LOEUF 1.3), and no established Mendelian diseases have been definitively associated with ARHGDIB mutations in current databases.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
72 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 37 | 0 | 37 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 22 | 4 | 0 | 26 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 22 | 43 | 0 | 65 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ARHGDIB · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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