GJB3

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.^[5][6][7]

GJB3
Identifiers
Aliases	GJB3, CX31, DFNA2, DFNA2B, EKV, gap junction protein beta 3, EKVP1
External IDs	MGI: 95721; HomoloGene: 7338; GeneCards: GJB3; OMA:GJB3 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.3 Start 34,781,214 bp[1] End 34,786,369 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D2.2|4 61.48 cM Start 127,219,028 bp[2] End 127,224,637 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of abdomen skin of limb skin of leg skin of arm skin of thigh gingival epithelium vulva cervix epithelium nipple oral cavity Top expressed in lip blastocyst skin of external ear corneal stroma left colon esophagus skin of back hair follicle skin of abdomen morula More reference expression data BioGPS More reference expression data
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
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 NP_032152 Location (UCSC) Chr 1: 34.78 – 34.79 Mb Chr 4: 127.22 – 127.22 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[7]