BEX3
Chr Xbrain expressed X-linked 3
Also known as: Bex, DXS6984E, HGR74, Hero20, NADE, NGFRAP1
The BEX3 protein functions as a signaling adapter molecule in neuronal apoptosis pathways, particularly in nerve growth factor receptor-mediated cell death and zinc-triggered neuronal death, and acts as a pseudosubstrate regulator of the CRL2(FEM1B) ubiquitin ligase complex. Mutations in BEX3 cause X-linked intellectual disability with seizures and behavioral abnormalities. This X-linked condition primarily affects males, with females typically being unaffected carriers.
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
BEX3 · 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