RAB39B
Chr XXLRRAB39B, member RAS oncogene family
Also known as: BGMR, MRX72, WSMN, WSN, XLID72
This protein is a small GTPase that regulates intracellular vesicle trafficking, autophagosome formation, and synaptic transmission by controlling AMPA receptor composition at post-synapses. Loss-of-function mutations cause X-linked intellectual developmental disorder (including Waisman syndrome) through disrupted vesicular trafficking and synaptic function. The condition follows X-linked recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
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
RAB39B · 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