BHLHE23
Chr 20basic helix-loop-helix family member e23
Also known as: BETA4, BHLHB4, Beta3b, bA305P22.3
This gene encodes a basic helix-loop-helix transcription factor that functions as a transcriptional repressor and modulates gene expression required for pancreatic and neuronal cell differentiation and maintenance, with particular importance for rod bipolar cell maturation in the retina. Mutations cause autosomal recessive retinal dystrophy with early childhood onset, affecting primarily the visual system. The gene shows moderate tolerance to loss-of-function variants, consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
BHLHE23 · 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 →No open access results found
External Resources
Links to major genomics databases and tools