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Gene: GJB2 (gap junction protein beta 2) Homo sapiens
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Symbol: GJB2
Name: gap junction protein beta 2
Description: Exhibits calcium ion binding activity; gap junction channel activity involved in cell communication by electrical coupling; and identical protein binding activity. Involved in gap junction assembly; gap junction-mediated intercellular transport; and transmembrane transport. Localizes to connexin complex and integral component of plasma membrane. Implicated in Bart-Pumphrey syndrome; Vohwinkel syndrome; autosomal dominant keratitis-ichthyosis-deafness syndrome; nonsyndromic deafness (multiple); and palmoplantar keratoderma-deafness syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BAPS; connexin 26; connexin-26; CX26; DFNA3; DFNA3A; DFNB1; DFNB1A; gap junction beta 2 proteinc; gap junction beta-2 protein; gap junction protein, beta 2, 26kDa; gap junction protein, beta 2, 26kda (connexin 26); HID; KID; mutant gap junction protein beta 2; NSRD1; PPK
Orthologs:
Mus musculus (house mouse) : Gjb2 (gap junction protein, beta 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Gjb2 (gap junction protein, beta 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gjb2 (gap junction protein beta 2)
Pan paniscus (bonobo/pygmy chimpanzee) : GJB2 (gap junction protein beta 2)
Canis lupus familiaris (dog) : GJB2 (gap junction protein beta 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gjb2 (gap junction protein beta 2)
Sus scrofa (pig) : GJB2 (gap junction protein beta 2)
Chlorocebus sabaeus (African green monkey) : GJB2 (gap junction protein beta 2)
Heterocephalus glaber (naked mole-rat) : Gjb2 (gap junction protein beta 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1320,187,463 - 20,192,938 (-)EnsemblGRCh38hg38GRCh38
GRCh381320,187,470 - 20,192,938 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371320,761,602 - 20,768,605 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361319,659,605 - 19,665,114 (-)NCBINCBI36hg18NCBI36
Build 341319,659,608 - 19,665,037NCBI
Celera131,823,407 - 1,828,919 (-)NCBI
Cytogenetic Map13q12.11NCBI
HuRef131,567,054 - 1,572,566 (-)NCBIHuRef
CHM1_11320,730,111 - 20,735,623 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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