View GJB2 gene homepage

General information
Gene symbol GJB2
Gene name gap junction protein beta 2
Chromosome 13
Chromosomal band q11-q12
Imprinted Not imprinted
Genomic reference NG_008358.1
Transcript reference NM_004004.5, XM_011535049.1
Associated with diseases DFNB1A
Citation reference(s) -
Curators (3) Anastasia Raoukka, Carsten W Lederer and Savvas Nikolaou
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants 0
Date created June 16, 2016
Date last updated June 28, 2016
Version GJB2:160628

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 DFNB1A (DFNB1 nonsyndromic hearing loss and deafness)
HGMD GJB2
GeneCards GJB2
GeneTests GJB2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000072 13 gap junction protein, beta 2, 26kDa NM_004004.5 NP_003995.2 1
00000073 13 gap junction protein, beta 2, 26kDa, transcript variant X1 XM_011535049.1 XP_011533351.1 0


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