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Gene: GJB6 (gap junction protein beta 6) Homo sapiens
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Symbol: GJB6
Name: gap junction protein beta 6
Description: Exhibits cytoskeletal protein binding activity and gap junction channel activity involved in cell communication by electrical coupling. Involved in gap junction assembly; gap junction-mediated intercellular transport; and transmembrane transport. Localizes to actin filament and gap junction. Implicated in Clouston syndrome; autosomal dominant nonsyndromic deafness 3B; autosomal recessive nonsyndromic deafness 1A; autosomal recessive nonsyndromic deafness 1B; and ectodermal dysplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: connexin 30; connexin-30; CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ectodermal dysplasia 2, hidrotic (Clouston syndrome); ED2; EDH; gap junction beta-6 protein; gap junction protein, beta 6 (connexin 30); gap junction protein, beta 6, 30kDa; HED; HED2
Orthologs:
Mus musculus (house mouse) : Gjb6 (gap junction protein, beta 6)  MGI  Alliance
Rattus norvegicus (Norway rat) : Gjb6 (gap junction protein, beta 6)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gjb6 (gap junction protein beta 6)
Pan paniscus (bonobo/pygmy chimpanzee) : GJB6 (gap junction protein beta 6)
Canis lupus familiaris (dog) : GJB6 (gap junction protein beta 6)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gjb6 (gap junction protein beta 6)
Sus scrofa (pig) : GJB6 (gap junction protein beta 6)
Chlorocebus sabaeus (African green monkey) : GJB6 (gap junction protein beta 6)
Heterocephalus glaber (naked mole-rat) : Gjb6 (gap junction protein beta 6)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1320,221,962 - 20,232,365 (-)EnsemblGRCh38hg38GRCh38
GRCh381320,221,962 - 20,232,395 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371320,796,101 - 20,806,534 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361319,694,101 - 19,703,067 (-)NCBINCBI36hg18NCBI36
Build 341319,694,101 - 19,703,067NCBI
Celera131,857,920 - 1,868,353 (-)NCBI
Cytogenetic Map13q12.11NCBI
HuRef131,601,586 - 1,612,019 (-)NCBIHuRef
CHM1_11320,764,612 - 20,775,034 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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RNA-SEQ Expression

Sequence

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Nomenclature History
 
More on GJB6
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1349249
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-05-05
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.