The GJB3 gene homepage

General information
Gene symbol GJB3
Gene name gap junction protein, beta 3, 31kDa
Chromosome 1
Chromosomal band p34
Imprinted Unknown
Genomic reference NG_008309.1
Transcript reference NM_024009.2
Exon/intron information NM_024009.2 exon/intron table
Associated with diseases DFNA-2B, DFNB-1A, EKVP
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Michel van Geel
Total number of public variants reported 72
Unique public DNA variants reported 45
Individuals with public variants 186
Hidden variants 9
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated September 15, 2020
Version GJB3:200915

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_024009.2.
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
Homepage URL
External URL Orphanet
The Connexin-deafness homepage
Hereditary Hearing Loss Homepage
HGNC 4285
Entrez Gene 2707
PubMed articles GJB3
OMIM - Gene 603324
OMIM - Diseases DFNA-2B (deafness, autosomal dominant, type 2b (DFNA-2B))
DFNB-1A (deafness, autosomal recessive, type 1A (DFNB-1A, incl. di-genic))
EKVP (erythrokeratodermia variabilis et progressiva (EKVP))
GeneCards GJB3
GeneTests GJB3

Active transcripts




NCBI ID     

NCBI Protein ID     

00008538 1 transcript variant 1 NM_024009.2 NP_076872.1 72

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 © 2010-2020. 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.