Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: GJB1 (gap junction protein beta 1) Homo sapiens
Symbol: GJB1
Name: gap junction protein beta 1
Description: This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMTX; CMTX1; connexin 32; connexin-32; CX32; GAP junction 28 kDa liver protein; gap junction beta-1 protein; gap junction membrane channel protein beta 1; gap junction protein, beta 1, 32kDa
Mus musculus (house mouse) : Gjb1 (gap junction protein, beta 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Gjb1 (gap junction protein, beta 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gjb1 (gap junction protein beta 1)
Pan paniscus (bonobo/pygmy chimpanzee) : GJB1 (gap junction protein beta 1)
Canis lupus familiaris (dog) : GJB1 (gap junction protein beta 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gjb1 (gap junction protein beta 1)
Sus scrofa (pig) : GJB1 (gap junction protein beta 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X71,215,212 - 71,225,215 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X70,435,062 - 70,445,065 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,351,787 - 70,361,777 (+)NCBINCBI36hg18NCBI36
Build 34X70,226,096 - 70,228,065NCBI
CeleraX70,788,947 - 70,798,946 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX64,252,835 - 64,262,404 (+)NCBIHuRef
CHM1_1X70,328,093 - 70,338,111 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on GJB1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732555
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.