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Gene: GJB3 (gap junction protein beta 3) Homo sapiens
Symbol: GJB3
Name: gap junction protein beta 3
Description: Predicted to have gap junction channel activity. Predicted to be involved in cell-cell signaling. Localizes to cell junction and intracellular membrane-bounded organelle. Implicated in autosomal dominant nonsyndromic deafness 2B; autosomal recessive nonsyndromic deafness 1A; erythrokeratodermia variabilis; and erythrokeratodermia variabilis et progressiva 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: connexin 31; connexin-31; CX31; DFNA2; DFNA2B; EKV; EKVP1; erythrokeratodermia variabilis; FLJ22486; gap junction beta-3 protein; gap junction protein, beta 3, 31kDa; gap junction protein, beta 3, 31kda (connexin 31); MGC102938
Mus musculus (house mouse) : Gjb3 (gap junction protein, beta 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Gjb3 (gap junction protein, beta 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gjb3 (gap junction protein beta 3)
Pan paniscus (bonobo/pygmy chimpanzee) : GJB3 (gap junction protein beta 3)
Canis lupus familiaris (dog) : GJB3 (gap junction protein beta 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gjb3 (gap junction protein beta 3)
Sus scrofa (pig) : GJB3 (gap junction protein beta 3)
Chlorocebus sabaeus (African green monkey) : GJB3 (gap junction protein beta 3)
Heterocephalus glaber (naked mole-rat) : Gjb3 (gap junction protein beta 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38 Ensembl134,781,214 - 34,786,369 (+)EnsemblGRCh38hg38GRCh38
GRCh38134,781,214 - 34,786,364 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37135,246,790 - 35,251,967 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36135,019,377 - 35,024,554 (+)NCBINCBI36hg18NCBI36
Build 34134,915,882 - 34,921,057NCBI
Celera133,520,514 - 33,525,691 (+)NCBI
Cytogenetic Map1p34.3NCBI
HuRef133,364,392 - 33,369,569 (+)NCBIHuRef
CHM1_1135,362,359 - 35,367,536 (+)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


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on GJB3
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1347813
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-06-18
Status: ACTIVE


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