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Gjb2
Gene Detail
Symbol

Name
ID
Gjb2
gap junction protein, beta 2
MGI:95720
STS
Synonyms
connexin 26, Cx26, Gjb-2
Feature Type
protein coding gene
Genetic Map
Chromosome 14
30.10 cM, cytoband D1-E1
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr14:57098600-57104702 bp, - strand
From VEGA annotation of GRCm38

  6103 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2975  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

HCOP human homology predictions: GJB2
Gene Tree: Gjb2

Human
homologs
GJB2, gap junction protein, beta 2, 26kDa
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2706
neXtProt AC: NX_P29033

Human Synonyms: CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK

Human Chr (Location): 13q11-q12; chr13:20187463-20192975 (-)  GRCh38.p2

Disease Associations: (8) Diseases Associated with Human GJB2

Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Chemically induced (ENU)(3) Targeted(11) Transgenic(1)
Incidental mutations (data from APF )
 
Mutant homozygotes are developmentally retarded with impaired transplacental nutrient/glucose uptake and die about embryonic day 11. Conditional mutants in inner ear are hearing impaired with cell death in cochlear epithelial network and inner hair cells.
 
Human Diseases Modeled in Mice Using Gjb2 (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(2)
Interactions
Gjb2 interacts with 212 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process cell communication, gap junction assembly, ...
Component cell junction, connexon complex, ...
Function gap junction channel activity, protein binding
External Resources: FuncBase
Expression
Literature Summary: (54 records)
Data Summary: Results (465)    Tissues (204)    Images (60)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 17
RNA in situ 355
Northern blot 10
Western blot 2
RT-PCR 15
Nuclease S1 66
cDNA source data(105)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase gjb2    NEW 
Molecular
reagents
All nucleic(118) Genomic(6) cDNA(106) Primer pair(5) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000034674 (Evidence)
Ensembl Gene Model ENSMUSG00000046352 (Evidence)
Entrez Gene 14619 (Evidence)
UniGene 390683
DFCI TC1575941, TC1726922
DoTS DT.101133774, DT.490953
Consensus CDS Project CCDS27153.1
International Mouse Phenotyping Consortium Status Gjb2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034674 VEGA Gene Model | MGI Sequence Detail 6103 C57BL/6J ±  kb
transcript OTTMUST00000088021 VEGA | MGI Sequence Detail 2406 Not Applicable 
polypeptide OTTMUSP00000047951 VEGA | MGI Sequence Detail 226 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(2) UniProt(4)
Polymorphisms
RFLP(1) : SNPs within 2kb(57 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000500 Connexin
InterPro IPR017990 Connexin, conserved site
InterPro IPR013092 Connexin, N-terminal
InterPro IPR002268 Gap junction beta-2 protein (Cx26)
InterPro IPR019570 Gap junction protein, cysteine-rich domain
Protein Ontology PR:000007998 gap junction beta-2 protein
References
(Earliest) J:11099 Hsieh CL, et al., Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes. Somat Cell Mol Genet. 1991 Mar;17(2):191-200
(Latest) J:221450 Zhu Y, et al., Connexin26 (GJB2) deficiency reduces active cochlear amplification leading to late-onset hearing loss. Neuroscience. 2015 Jan 22;284:719-29
All references(140)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-10092, MGD-MRK-10097, MGI:2145620

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory