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 zebrafish

Gene Tree: Gjb6

Human homologs

Human Homolog		GJB6, gap junction protein, beta 6, 30kDa
NCBI Gene ID		10804
neXtProt AC		NX_O95452
Human Synonyms		CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2
Human Chr (Location)		13q12; chr13:20796101-20806534 (-)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human GJB6

Alleles and phenotypes

All alleles(4) : Targeted(4)
 

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.

 
Human Diseases Modeled Using Mouse Gjb6 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(1)

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: (11 records)
Data Summary: Results (18)    Tissues (18)    Images (2)
Theiler Stages: 23, 28

Assay Type	Results
RNA in situ	18

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(10) Genomic(1) cDNA(7) Primer pair(1) Other(1)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000034673 (Evidence)
Ensembl Gene Model	ENSMUSG00000040055 (Evidence)
Entrez Gene	14623 (Evidence)
DFCI	TC1579120, TC1596634, TC1740955
DoTS	DT.101255717, DT.525988
NIA Mouse Gene Index	U035622
Consensus CDS Project	CCDS27154.1
International Mouse Knockout Project Status	Gjb6

Sequences

Length	Strain/Species
genomic	OTTMUSG00000034673	VEGA Gene Model | MGI Sequence Detail	10309	C57BL/6J
transcript	OTTMUST00000088018	VEGA | MGI Sequence Detail	2105	Not Applicable
polypeptide	OTTMUSP00000047949	VEGA | MGI Sequence Detail	261	Not Applicable

All sequences(41) RefSeq(6) UniProt(4)

Polymorphisms

SNPs(49 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193630 Fujimoto A, et al., GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. J Dermatol Sci. 2013 Feb;69(2):159-66
All references(75)

Other accession IDs

MGD-MRK-34016, MGD-MRK-36160, MGI:106324, MGI:2145583