RAB3GAP2
Chr 1ARRAB3 GTPase activating non-catalytic protein subunit 2
Also known as: MARTS1, RAB3-GAP150, RAB3GAP150, SPG69, WARBM2, p150
RAB3GAP2 encodes the regulatory subunit of the Rab3 GTPase-activating complex, which regulates neurotransmitter vesicle trafficking and maintains endoplasmic reticulum structure, with highest expression in brain during neurodevelopment. Biallelic mutations cause Martsolf syndrome and Warburg micro syndrome, both autosomal recessive conditions involving intellectual disability, eye abnormalities, and additional developmental features. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.29), reflecting its critical role in normal development.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
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
RAB3GAP2 · 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