The GJB2 gene homepage

General information
Gene symbol GJB2
Gene name gap junction protein beta 2
Chromosome 13
Chromosomal band q12.11
Imprinted Unknown
Genomic reference NG_008358.1
Transcript reference NM_004004.6
Associated with diseases NSHL, PDS
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 23
Unique public DNA variants reported 10
Individuals with public variants 6
Hidden variants 5
Download all this gene's data Download all data
Date created December 10, 2020
Date last updated December 22, 2020
Version GJB2:201222

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 4284
Entrez Gene 2706
PubMed articles GJB2
OMIM - Gene 121011
OMIM - Diseases PDS (Pendred syndrome)
HGMD GJB2
GeneCards GJB2
GeneTests GJB2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000062 13 gap junction protein beta 2 NM_004004.6 NP_003995.2 23


Copyright & disclaimer
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