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Gjb6 Gene Detail
 Symbol
Name
ID
Gjb6
gap junction protein, beta 6
MGI:107588


Nomenclature History
Synonyms connexin 30, Cx30, D14Bwg0506e
Genetic Map
Chromosome 14
22.5 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 3)

Sequence Map
Chr14:57742141-57752103 bp, - strand
(From Ensembl annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; cattle; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Gjb6 ± 2 cM)
Protein SuperFamily: gap junction protein
TreeFam: TF329606
Sequences
Representative Sequences Length Strain/Species Flank
genomic ENSMUSG00000040055 Ensembl Gene Model | MGI Sequence Detail 9963 C57BL/6J ± Kb
transcript NM_001010937 RefSeq | MGI Sequence Detail 2085 -
polypeptide P70689 UniProt | EBI | MGI Sequence Detail 261 Not Applicable
For the selected sequences
All sequences(23)
Alleles
and
phenotypes
All alleles(1) : Targeted, other(1)
Mice homozygous for this targeted mutation are viable and fertile but display progressive hearing loss, characterized by severe degeneration of the auditory hair cells and loss of the endocochlear potential.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (1)   Phenotype Images (1)  
Polymorphisms SNPs within 2kb(61 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(10)
Process cell communication, ear morphogenesis...
Component cell junction, connexon complex...
Function protein binding
External Resources: MouseFunc
Expression Literature Summary: (6 records)
cDNA source data(27)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(30) Genomic(1) cDNA(27) Primer pair(1) Other(1)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000040055
DoTS DT.101255717, DT.525988
UniGene 25652
DFCI TC1579120, TC1596634
NIA Mouse Gene Index U035622
Entrez Gene 14623
International Mouse Knockout Project Status Gjb6
Protein
domains
InterPro ID Description
IPR000500 Connexins
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:34343 Dahl E et al., "Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highly expressed in adult brain and skin." J Biol Chem 1996 Jul 26;271(30):17903-10
(Latest) J:150822 Kunze A et al., "Connexin expression by radial glia-like cells is required for neurogenesis in the adult dentate gyrus." Proc Natl Acad Sci U S A 2009 Jul 7;106(27):11336-41
All references(27)
Other
accession IDs
MGD-MRK-34016, MGD-MRK-36160, MGI:106324, MGI:2145583

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
11/20/2009
MGI_4.31
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The Jackson Laboratory