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 DFNA-3A, DFNB-1A, Hystrix-like ichthyosis with deafness, keratitis-ichthyosis-deafness syndrome, autosomal dominant, keratoderma palmoplantar, deafness, Knuckle pads, deafness AND leukonychia syndrome, Mutilating keratoderma
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Connexin-deafness, Ester Ballana and Marina Ventayol
Total number of public variants reported 394
Unique public DNA variants reported 111
Individuals with public variants 512
Hidden variants 17
Download all this gene's data Download all data
Date created September 13, 2012
Date last updated February 10, 2021
Version GJB2:210210

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 DFNA-3A (deafness, autosomal dominant, type 3A (DFNA-3A))
DFNB-1A (deafness, autosomal recessive, type 1A (DFNB-1A, incl. di-genic))
Hystrix-like ichthyosis with deafness
keratitis-ichthyosis-deafness syndrome, autosomal dominant
keratoderma palmoplantar, deafness
Knuckle pads, deafness AND leukonychia syndrome
Mutilating keratoderma
GeneCards GJB2
Orphanet GJB2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000993 13 gap junction protein, beta 2, 26kDa NM_004004.5 NP_003995.2 394

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.