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; chr13:20761602-20767114 (-)  GRCh37.p10
Disease Associations		(8) Diseases Associated with Human GJB2

Alleles and phenotypes

All alleles(13) : Targeted(10) 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.

 
Human Diseases Modeled Using Mouse Gjb2 (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	cell communication, sensory perception of sound
Component	cell junction, connexon complex, ...
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (50 records)
Data Summary: Results (455)    Tissues (192)    Images (56)
Theiler Stages: 1, 7, 9, 11, 15, 17, 19, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	15
RNA in situ	349
Northern blot	10
Western blot	2
RT-PCR	13
Nuclease S1	66

cDNA source data(104)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(115) Genomic(6) cDNA(105) Primer pair(4)
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 Knockout Project Status	Gjb2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000034674	VEGA Gene Model | MGI Sequence Detail	6103	C57BL/6J
transcript	OTTMUST00000088021	VEGA | MGI Sequence Detail	2406	Not Applicable
polypeptide	OTTMUSP00000047951	VEGA | MGI Sequence Detail	226	Not Applicable

All sequences(33) RefSeq(2) UniProt(4)

Polymorphisms

RFLP(1) : SNPs(38 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:190524 Shalom-Barak T, et al., Placental PPARgamma regulates spatiotemporally diverse genes and a unique metabolic network. Dev Biol. 2012 Dec 1;372(1):143-55
All references(130)

Other accession IDs

MGD-MRK-10092, MGD-MRK-10097, MGI:2145620