GJB5

GJB5
Identifiers
Aliases	GJB5, CX31.1, gap junction protein beta 5
External IDs	OMIM: 604493; MGI: 95723; HomoloGene: 3858; GeneCards: GJB5; OMA:GJB5 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.3 Start 34,755,047 bp[1] End 34,758,512 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D2.2|4 61.51 cM Start 127,248,602 bp[2] End 127,251,974 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of abdomen skin of leg skin of arm skin of thigh gums gingival epithelium epithelium of esophagus olfactory zone of nasal mucosa oral cavity palpebral conjunctiva Top expressed in skin of external ear blastocyst lip skin of back tail of embryo skin of abdomen decidua epidermis morula hair follicle More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 2709 14622 Ensembl ENSG00000189280 ENSMUSG00000042357 UniProt O95377 Q02739 RefSeq (mRNA) NM_005268 NM_010291 RefSeq (protein) NP_005259 NP_034421 Location (UCSC) Chr 1: 34.76 – 34.76 Mb Chr 4: 127.25 – 127.25 Mb PubMed search [3] [4]
Wikidata
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Gap junction beta-5 protein (GJB5), also known as connexin-31.1 (Cx31.1), is a protein that in humans is encoded by the GJB5 gene.[5]

Function

Gap junctions are conduits that allow the direct cell-to-cell passage of small cytoplasmic molecules, including ions, metabolic intermediates, and second messengers, and thereby mediate intercellular metabolic and electrical communication. Gap junction channels consist of connexin protein subunits, which are encoded by a multigene family.[5]

References

1. GRCh38: Ensembl release 89: ENSG00000189280 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000042357 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: gap junction protein".

Further reading

• Canova C, Hashibe M, Simonato L, et al. (2009). "Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project" (PDF). Cancer Res. 69 (7): 2956–65. doi:10.1158/0008-5472.CAN-08-2604. hdl:2318/104855. PMID 19339270.
• Richard G, Smith LE, Bailey RA, et al. (1998). "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis". Nat. Genet. 20 (4): 366–9. doi:10.1038/3840. PMID 9843209. S2CID 841727.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.