BEX2
Chr Xbrain expressed X-linked 2
Also known as: BEX1, DJ79P11.1
The protein interacts with transcription factor LMO2 in DNA-binding complexes that recognize E-box elements and promotes transcription, while also regulating mitochondrial apoptosis and G1 cell cycle progression through modulation of BCL2 family proteins and cell cycle regulators. Currently, no definitive pediatric neurological phenotypes have been established for pathogenic BEX2 variants, though the gene shows tumor suppressor activity and is expressed in brain tissue. This X-linked gene would follow X-linked inheritance patterns, with the protein showing relatively low constraint to loss-of-function variation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
BEX2 · 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