About   Help   FAQ
Gjb6
Gene Detail
Symbol

Name
ID
Gjb6
gap junction protein, beta 6
MGI:107588
Synonyms
connexin 30, Cx30, D14Bwg0506e
Feature Type
protein coding gene
Genetic Map
Chromosome 14
30.10 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr14:57123303-57133611 bp, - strand
From VEGA annotation of GRCm38

  10309 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4936  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: GJB6
Gene Tree: Gjb6

Human
homologs
GJB6, gap junction protein, beta 6, 30kDa
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 10804
neXtProt AC: NX_O95452

Human Synonyms: CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2

Human Chr (Location): 13q12; chr13:20221962-20232395 (-)  GRCh38.p2

Disease Associations: (5) Diseases Associated with Human GJB6

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Targeted(7)
Incidental mutations (data from APF , CvDC )
 
Mice homozygous for one targeted mutation are viable and fertile but display progressive hearing loss, with severe degeneration of the auditory hair cells and loss of the endocochlear potential. Mice homozygous for a second allele display normal hearing.
 
Human Diseases Modeled in Mice Using Gjb6 (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(1)
Interactions
Gjb6 interacts with 121 markers (Mir1b, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process cell communication, ear morphogenesis, ...
Component apical plasma membrane, cell junction, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (17)    Tissues (17)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 16
RT-PCR 1
cDNA source data(7)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA GJB6 ZFIN cx30.3    NEW 
Molecular
reagents
All nucleic(11) Genomic(1) cDNA(7) Primer pair(2) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000034673 (Evidence)
Ensembl Gene Model ENSMUSG00000040055 (Evidence)
Entrez Gene 14623 (Evidence)
DFCI TC1740955, TC1596634, TC1579120
DoTS DT.525988, DT.101255717
NIA Mouse Gene Index U035622
Consensus CDS Project CCDS27154.1
International Mouse Phenotyping Consortium Status Gjb6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034673 VEGA Gene Model | MGI Sequence Detail 10309 C57BL/6J ±  kb
transcript OTTMUST00000088018 VEGA | MGI Sequence Detail 2105 Not Applicable 
polypeptide OTTMUSP00000047949 VEGA | MGI Sequence Detail 261 Not Applicable 

For the selected sequences
All sequences(44) RefSeq(9) UniProt(4)
Polymorphisms
SNPs within 2kb(66 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000500 Connexin
InterPro IPR017990 Connexin, conserved site
InterPro IPR013092 Connexin, N-terminal
InterPro IPR019570 Gap junction protein, cysteine-rich domain
Protein Ontology PR:000008002 gap junction beta-6 protein
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:219459 Chen J, et al., Deafness induced by Connexin 26 (GJB2) deficiency is not determined by endocochlear potential (EP) reduction but is associated with cochlear developmental disorders. Biochem Biophys Res Commun. 2014 May 23;448(1):28-32
All references(85)
Disease annotation references (3)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/20/2015
MGI 5.22
The Jackson Laboratory