2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETranscription Factor
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingprotein bindingDNA-binding transcription factor activity, RNA polymerase II-specificE-box bindingcardiomyopathyAbnormality of the skeletal systemduodenitisHypercholesterolemia
Based on limited published evidence, BHLHE23 is a basic helix-loop-helix transcription factor that functions as a DNA-binding transcription regulator. UniProt annotations suggest it may act as a transcriptional repressor modulating genes required for pancreatic and neuronal cell differentiation. BHLHE23 is particularly important for rod bipolar cell maturation in the retina 1, where it acts downstream of LHX4 in regulating retinal bipolar cell subtype development. Recent evidence indicates BHLHE23 interacts with lncHAR1B and promotes KLF4 expression, contributing to endothelial cell function and macrophage polarization in wound healing contexts 2.
1
BHLHE23 is essential for rod bipolar cell development in the retina and acts downstream of LHX4 in regulating retinal bipolar cell subtype specification
PMID: 329371372
BHLHE23 interacts with lncHAR1B and promotes KLF4 expression, affecting endothelial cell function and macrophage polarization in diabetic wound healing
PMID: 38034500⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
cardiomyopathyOpen Targets
Abnormality of the skeletal systemOpen Targets
HypercholesterolemiaOpen Targets
prostate cancerOpen Targets
Down syndromeOpen Targets
breast cancerOpen Targets
tongue cancerOpen Targets
ocular cicatricial pemphigoidOpen Targets
Huntington diseaseOpen Targets
Bartsocas-Papas syndrome 1Open Targets
breast neoplasmOpen Targets
breast carcinomaOpen Targets
congenital stationary night blindnessOpen Targets
diabetes mellitusOpen Targets
No pathogenic variants reported on ClinVar for this gene.