Back to discover

GJB2

Gene

gap junction protein beta 2

HGNCHGNC:4284EnsemblENSG00000165474NCBI Gene2706
Locus: gene with protein productLocation: 13q12.11

Also known as

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

Also known asDFNB1 · DFNA3 · CX26 · NSRD1
View full nomenclature history (8)
Previous symbolsDFNB1, DFNA3
Alias symbolsCX26, NSRD1
Previous namesgap junction protein, beta 2, 26kDa (connexin 26), gap junction protein, beta 2, 26kD (connexin 26), gap junction protein, beta 2, 26kDa
Alias namesconnexin 26

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.

Hearing Loss
Deafness

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.

Gap junction 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.