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Gjb2
Gene Detail
 Symbol
Name
ID
Gjb2
gap junction protein, beta 2
MGI:95720
STS D14Mit83
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

Gene Tree: Gjb2

Human
homologs
Human Homolog GJB2, gap junction protein, beta 2, 26kDa
NCBI Gene ID 2706
neXtProt AC  NX_P29033
Human Synonyms  CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
Human Chr (Location)  13q11-q12; chr13:20187463-20194466 (-)  GRCh38
Disease Associations  (8) Diseases Associated with Human GJB2
Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Chemically induced (ENU)(3) Targeted(10)
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 Using Mouse Gjb2 (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(2)
Interactions
Gjb2 interacts with 212 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cell communication, sensory perception of sound, ...
Component cell junction, connexon complex, ...
Function gap junction channel activity, protein binding
External Resources: FuncBase
Expression
Literature Summary: (51 records)
Data Summary: Results (461)    Tissues (195)    Images (60)
Theiler Stages: 1, 7, 9, 11, 14, 15, 17, 19, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 15
RNA in situ 355
Northern blot 10
Western blot 2
RT-PCR 13
Nuclease S1 66
cDNA source data(105)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(117) Genomic(6) cDNA(106) Primer pair(4) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000034674 (Evidence)
Ensembl Gene ModelENSMUSG00000046352 (Evidence)
Entrez Gene14619 (Evidence)
UniGene390683
DFCITC1575941, TC1726922
DoTSDT.101133774, DT.490953
Consensus CDS ProjectCCDS27153.1
International Mouse Knockout Project StatusGjb2
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:206835 Takada Y, et al., Connexin 26 null mice exhibit spiral ganglion degeneration that can be blocked by BDNF gene therapy. Hear Res. 2014 Mar;309:124-35
All references(134)
Disease annotation references (3)
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
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory