GJB3

GJB3
Identifiers
Aliases	GJB3, CX31, DFNA2, DFNA2B, EKV, gap junction protein beta 3
External IDs	MGI: 95721 HomoloGene: 7338 GeneCards: GJB3
Gene ontology Molecular function • gap junction channel activity Cellular component • cytoplasm • integral component of membrane • gap junction • plasma membrane • connexin complex • membrane • cell-cell junction • cell junction • intracellular membrane-bounded organelle Biological process • cell communication • in utero embryonic development • skin development • placenta development • transmembrane transport • spermatogenesis • cellular response to retinoic acid Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2707	14620
Ensembl	ENSG00000188910	ENSMUSG00000042367
UniProt	O75712	P28231
RefSeq (mRNA)	NM_024009 NM_001005752	NM_001160012 NM_008126
RefSeq (protein)	NP_001005752 NP_076872	NP_001153484.1 NP_032152.1 NP_001153484 NP_032152
Location (UCSC)	Chr 1: 34.78 – 34.79 Mb	Chr 4: 127.33 – 127.33 Mb
PubMed search

2707

14620

ENSG00000188910

ENSMUSG00000042367

O75712

P28231

NM_024009
NM_001005752

NM_001160012
NM_008126

NP_001005752
NP_076872

NP_001153484.1
NP_032152.1
NP_001153484
NP_032152

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein.

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Wikipedia