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Gene: Gjb2 (gap junction protein, beta 2) Mus musculus
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Symbol: Gjb2
Name: gap junction protein, beta 2
Description: Exhibits gap junction channel activity. Involved in cell-cell signaling; gap junction assembly; and gap junction-mediated intercellular transport. Localizes to connexin complex and integral component of plasma membrane. Is expressed in several structures, including alimentary system; ear; genitourinary system; meninges; and skin. Used to study autosomal dominant keratitis-ichthyosis-deafness syndrome and autosomal recessive nonsyndromic deafness 1A. Human ortholog(s) of this gene implicated in Bart-Pumphrey syndrome; Vohwinkel syndrome; autosomal dominant keratitis-ichthyosis-deafness syndrome; nonsyndromic deafness (multiple); and palmoplantar keratoderma-deafness syndrome. Orthologous to human GJB2 (gap junction protein beta 2); INTERACTS WITH 1,1-dichloroethene; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AI325222; Cnx26; connexin 26; connexin e; connexin-26; Cx26; Cxne; gap junction beta-2 protein; gap junction membrane channel protein beta 2; Gjb-2
Orthologs:
Homo sapiens (human) : GJB2 (gap junction protein beta 2)  HGNC  Alliance
Rattus norvegicus (Norway rat) : Gjb2 (gap junction protein, beta 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gjb2 (gap junction protein beta 2)
Pan paniscus (bonobo/pygmy chimpanzee) : GJB2 (gap junction protein beta 2)
Canis lupus familiaris (dog) : GJB2 (gap junction protein beta 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gjb2 (gap junction protein beta 2)
Sus scrofa (pig) : GJB2 (gap junction protein beta 2)
Chlorocebus sabaeus (African green monkey) : GJB2 (gap junction protein beta 2)
Heterocephalus glaber (naked mole-rat) : Gjb2 (gap junction protein beta 2)
more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm38 Ensembl1457,098,600 - 57,104,702 (-)EnsemblGRCm38mm10GRCm38
GRCm381457,098,602 - 57,104,702 (-)NCBIGRCm38GRCm38mm10GRCm38
MGSCv371457,717,439 - 57,723,539 (-)NCBIGRCm37mm9NCBIm37
MGSCv361456,052,728 - 56,058,775 (-)NCBImm8
Celera1454,889,190 - 54,895,282 (-)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1430.1NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Genomics

Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
 
More on Gjb2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1550135
Created: 2005-09-30
Species: Mus musculus
Last Modified: 2020-06-30
Status: ACTIVE



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