Back to discover

BHLHE40

Gene

basic helix-loop-helix family member e40

HGNCHGNC:1046EnsemblENSG00000134107NCBI Gene8553
Locus: gene with protein productLocation: 3p26.1

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asSTRA13 · BHLHB2 · DEC1 · SHARP2 · Clast5
View full nomenclature history (9)
Previous symbolsSTRA13, BHLHB2
Alias symbolsDEC1, SHARP2, Clast5
Previous namesbasic helix-loop-helix domain containing, class B, 2, basic helix-loop-helix family, member e40
Alias namesdifferentially expressed in chondrocytes 1, differentiated embryo chondrocyte expressed gene 1

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Hypothyroidism
Skin Neoplasms
Dermatitis, Atopic
Actinic keratosis
Skin Diseases
Myxedema
Seborrheic keratosis
Thyroid Diseases

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Basic helix-loop-helix proteins

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.