GJB2 (gap junction protein, beta 2, 26kDa)

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Keyword

Gene: GJB2 (gap junction protein, beta 2, 26kDa) Homo sapiens

Symbol:

GJB2

Name:

gap junction protein, beta 2, 26kDa

Description:

This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

connexin 26; connexin-26; CX26; DFNA3; DFNA3A; DFNB1; DFNB1A; gap junction beta-2 protein; gap junction protein beta 2; gap junction protein, beta 2, 26kda (connexin 26); HID; KID; NSRD1; OTTHUMP00000018093; OTTHUMP00000018094; PPK

Orthologs:

Mus musculus : Gjb2 (gap junction protein, beta 2) MGI
Rattus norvegicus : Gjb2 (gap junction protein, beta 2)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	13	1,715,381 - 1,720,893	-	NCBI
Human Genome Assembly HuRef	13	1,567,054 - 1,572,566	-	NCBI
Human Genome Assembly GRCh37	13	20,761,602 - 20,767,114	-	NCBI
Human Genome Assembly Build 36	13	19,659,605 - 19,665,114	-	NCBI
Human Cytogenetic Map	13	q11-q12		NCBI
Human Genome Assembly	13	19,659,608 - 19,665,037		NCBI