The GJB2 gene homepage

General information
Gene symbol GJB2
Gene name gap junction protein, beta 2, 26kDa
Chromosome 13
Chromosomal band q11-q12
Imprinted Unknown
Genomic reference NG_008358.1
Transcript reference NM_004004.5
Exon/intron information NM_004004.5 exon/intron table
Associated with diseases BAPS, DFNA3A, DFNB1A, KIDAD, VOWNKL, Hystrix-like ichthyosis with deafness, keratoderma palmoplantar, deafness
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 446
Unique public DNA variants reported 122
Individuals with public variants 610
Hidden variants 20
Download all this gene's data Download all data
Date created September 13, 2012
Date last updated January 11, 2023
Version GJB2:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004004.5.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL Connexin-deafness homepage
HGNC 4284
OMIM - Gene 121011
OMIM - Diseases BAPS (Bart-Pumphrey syndrome)
DFNA3A (deafness, autosomal dominant, type 3A (DFNA-3A))
DFNB1A (deafness, autosomal recessive, type 1A (DFNB-1A, incl. di-genic))
KIDAD (keratitis-ichthyosis-deafness syndrome, autosomal dominant)
VOWNKL (Vohwinkel syndrome)
Hystrix-like ichthyosis with deafness
keratoderma palmoplantar, deafness
GeneCards GJB2
Orphanet GJB2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000993 13 gap junction protein, beta 2, 26kDa NM_004004.5 NP_003995.2 446

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