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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)
End	34,786,369 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	127,224,637 bp
RNA expression pattern
	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
	; ; ; ;
	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
	2707
	14620
	ENSG00000188910
	ENSMUSG00000042367
	O75712
	P28231
	NM_024009; NM_001005752
	NM_001160012; NM_008126
	NP_001005752; NP_076872
	NP_001153484; NP_032152
	Wikidata
View/Edit Human	View/Edit Mouse

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]

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000188910 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000042367 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ (Dec 1998). "Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment". Nat Genet. 20 (4): 370–3. doi:10.1038/3845. PMID 9843210. S2CID 3029271.
^ Wenzel K, Manthey D, Willecke K, Grzeschik KH, Traub O (Sep 1998). "Human gap junction protein connexin31: molecular cloning and expression analysis". Biochem Biophys Res Commun. 248 (3): 910–5. doi:10.1006/bbrc.1998.9070. PMID 9704026.
^ ^a ^b "Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa".