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 399
Unique public DNA variants reported 114
Individuals with public variants 514
Hidden variants 17
Download all this gene's data Download all data
Date created September 13, 2012
Date last updated June 03, 2021
Version GJB2:210603

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
HGMD GJB2
GeneCards GJB2
Orphanet GJB2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000993 13 gap junction protein, beta 2, 26kDa NM_004004.5 NP_003995.2 399


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