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


Nomenclature History
STS D14Mit83
Synonyms connexin 26, Cx26, Gjb-2
Genetic Map
Chromosome 14
21.0 cM, cytoband D1-E1
Detailed Genetic Map ± 1 cM
 
Mapping data( 11)

Sequence Map
Chr14:57717455-57723502 bp, - strand
(From NCBI annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; dog, domestic; rat; sheep    (Mammalian Orthology)
Comparative Map (Mouse/Human Gjb2 ± 2 cM)
TreeFam: TF329606
Sequences
Representative Sequences Length Strain/Species Flank
genomic 14619 NCBI Gene Model | MGI Sequence Detail 6048 C57BL/6J ± Kb
transcript NM_008125 RefSeq | MGI Sequence Detail 2404 C57BL/6
polypeptide Q00977 UniProt | EBI | MGI Sequence Detail 226 Not Applicable
For the selected sequences
All sequences(28)
Alleles
and
phenotypes
All alleles(6) : Targeted, knock-out(1) Targeted, other(2) Chemically induced(3)
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.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (1)   Phenotype Images (2)  
Polymorphisms RFLP(1) SNPs within 2kb(48 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(9)
Process cell communication, sensory perception of sound...
Component cell junction, connexon complex...
Function protein binding
External Resources: MouseFunc
Expression Literature Summary: (31 records)
Data Summary: Assays (20)    Results (92)    Tissues (52)    Images (19)
Theiler Stages: 1,7,9,11,15,19,21,22,23,24,25,26,28
  Assay Type Assays   Results
      RT-PCR 4   13
      Immunohistochemistry 1   5
      Nuclease S1 14   66
      Northern blot 1   8
cDNA source data(103)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(113) Genomic(6) cDNA(104) Primer pair(3) Antibodies(1)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000046352
DoTS DT.101133774, DT.490953
UniGene 390683
DFCI TC1575941, TC1726922
Entrez Gene 14619
International Mouse Knockout Project Status Gjb2
Protein
domains
InterPro ID Description
IPR000500 Connexins
IPR002268 Gap junction beta-2 protein (Cx26)
IPR013092 Connexin, N-terminal
IPR017990 Connexin, conserved site
IPR017991 Connexin region
IPR019570 Gap junction protein, cysteine-rich domain
Graphical View of Protein Domain Structure
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:150813 Dupressoir A et al., "Syncytin-A knockout mice demonstrate the critical role in placentation of a fusogenic, endogenous retrovirus-derived, envelope gene." Proc Natl Acad Sci U S A 2009 Jul 21;106(29):12127-32
All references(78)
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
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last database update
11/20/2009
MGI_4.31
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The Jackson Laboratory