GJB4

GJB4
Identifiers
Aliases	GJB4, CX30.3, EKV, gap junction protein beta 4, EKVP2
External IDs	OMIM: 605425 MGI: 95722 HomoloGene: 7339 GeneCards: GJB4
Gene location (Human) Chr. Chromosome 1 (human) Band 1p34.3 Start 34,759,740 bp End 34,762,327 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 D2.2|4 61.51 cM Start 127,244,879 bp End 127,247,874 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of abdomen gallbladder vagina islet of Langerhans thymus urinary bladder prostate minor salivary gland appendix rectum Top expressed in lip esophagus skin of back hair follicle skin of abdomen cornea cervix stomach spinal cord membranous labyrinth More reference expression data BioGPS More reference expression data
Gene ontology Molecular function gap junction channel activity Cellular component connexin complex integral component of membrane gap junction plasma membrane membrane nucleus nucleolus cell junction integral component of plasma membrane Biological process cell communication sensory perception of smell olfactory behavior cell-cell signaling transmembrane transport gap junction-mediated intercellular transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 127534 14621 Ensembl ENSG00000189433 ENSMUSG00000046623 UniProt Q9NTQ9 Q02738 RefSeq (mRNA) NM_153212 NM_008127 RefSeq (protein) NP_694944 NP_032153 Location (UCSC) Chr 1: 34.76 – 34.76 Mb Chr 4: 127.24 – 127.25 Mb PubMed search
Wikidata
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Gap junction beta-4 protein (GJB4), also known as connexin 30.3 (Cx30.3) — is a protein that in humans is encoded by the GJB4 gene.

Further reading

• Andrew L Harris; Darren Locke (2009). Connexins, A Guide. New York: Springer. p. 574. ISBN 978-1-934115-46-6.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
• Common JE, O'Toole EA, Leigh IM, et al. (2006). "Clinical and genetic heterogeneity of erythrokeratoderma variabilis". J. Invest. Dermatol. 125 (5): 920–7. doi:10.1111/j.0022-202X.2005.23919.x. PMID 16297190.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Plantard L, Huber M, Macari F, et al. (2004). "Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis". Hum. Mol. Genet. 12 (24): 3287–94. doi:10.1093/hmg/ddg364. PMID 14583444.
• Richard G, Brown N, Rouan F, et al. (2003). "Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations". J. Invest. Dermatol. 120 (4): 601–9. doi:10.1046/j.1523-1747.2003.12080.x. PMID 12648223.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• López-Bigas N, Melchionda S, Gasparini P, et al. (2002). "A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families". Hum. Mutat. 19 (4): 458. doi:10.1002/humu.9023. PMID 11933201.
• Manthey D, Banach K, Desplantez T, et al. (2001). "Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels". J. Membr. Biol. 181 (2): 137–48. doi:10.1007/s00232-001-0017-1. PMID 11420600. S2CID 6408361.
• Macari F, Landau M, Cousin P, et al. (2000). "Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis". Am. J. Hum. Genet. 67 (5): 1296–301. doi:10.1016/S0002-9297(07)62957-7. PMC 1288569. PMID 11017804.
• Hennemann H, Dahl E, White JB, et al. (1992). "Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin". J. Biol. Chem. 267 (24): 17225–33. doi:10.1016/S0021-9258(18)41916-3. PMID 1512260.
• Hacham-Zadeh S, Even-Paz Z (1978). "Erythrokeratodermia variabilis in a Jewish Kurdish family". Clin. Genet. 13 (5): 404–8. doi:10.1111/j.1399-0004.1978.tb04138.x. PMID 148984. S2CID 46050096.