GDI2
Chr 10GDP dissociation inhibitor 2
Also known as: HEL-S-46e, RABGDIB
GDP dissociation inhibitor 2 regulates intracellular membrane trafficking by preventing GDP to GTP exchange of Rab proteins and negatively regulates protein transport to cilia through RAB8A inhibition. Mutations cause X-linked intellectual disability, often with additional features that may include autism spectrum disorder, seizures, and developmental delays. This gene shows high constraint against loss-of-function variants (pLI 0.85, LOEUF 0.38), indicating that such mutations are likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GDI2 · 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