GJB3

Gap junction protein, beta 3, 31kDa
Identifiers
Symbols	GJB3 ; CX31; DFNA2; DFNA2B; EKV
External IDs	OMIM: 603324 MGI: 95721 HomoloGene: 7338 IUPHAR: 720 GeneCards: GJB3 Gene
Gene ontology Molecular function • gap junction channel activity Cellular component • cytoplasm • gap junction • connexon complex • integral component of membrane Biological process • in utero embryonic development • placenta development • cell communication • sensory perception of sound • skin development • transmembrane transport 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_001005752	NM_001160012
RefSeq (protein)	NP_001005752	NP_001153484
Location (UCSC)	Chr 1: 34.78 – 34.79 Mb	Chr 4: 127.33 – 127.33 Mb
PubMed search	[1]	[2]

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

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.

Further reading

• Andrew L Harris and Darren Locke (2009). Connexins, A Guide. New York: Springer. p. 574. ISBN 978-1-934115-46-6. 
• Coucke P, Van Camp G, Djoyodiharjo B; et al. (1994). "Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families". N. Engl. J. Med. 331 (7): 425–31. doi:10.1056/NEJM199408183310702. PMID 8035838. 
• Van Camp G, Coucke PJ, Kunst H; et al. (1997). "Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p". Genomics 41 (1): 70–4. doi:10.1006/geno.1997.4624. PMID 9126484. 
• 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. 
• Liu XZ, Xia XJ, Xu LR; et al. (2000). "Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss". Hum. Mol. Genet. 9 (1): 63–7. doi:10.1093/hmg/9.1.63. PMID 10587579. 
• Wilgoss A, Leigh IM, Barnes MR; et al. (2000). "Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis". J. Invest. Dermatol. 113 (6): 1119–22. doi:10.1046/j.1523-1747.1999.00792.x. PMID 10594760. 
• Kelsell DP, Wilgoss AL, Richard G; et al. (2000). "Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family". Eur. J. Hum. Genet. 8 (2): 141–4. doi:10.1038/sj.ejhg.5200407. PMID 10757647. 
• López-Bigas N, Rabionet R, Martínez E; et al. (2000). "Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene". Hum. Mutat. 15 (5): 481–2. doi:10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO;2-7. PMID 10790215. 
• Richard G, Brown N, Smith LE; et al. (2000). "The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3". Hum. Genet. 106 (3): 321–9. doi:10.1007/s004390051045. PMID 10798362. 
• López-Bigas N, Olivé M, Rabionet R; et al. (2001). "Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment". Hum. Mol. Genet. 10 (9): 947–52. doi:10.1093/hmg/10.9.947. PMID 11309368. 
• Gottfried I, Landau M, Glaser F; et al. (2002). "A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein". Hum. Mol. Genet. 11 (11): 1311–6. doi:10.1093/hmg/11.11.1311. PMID 12019212. 
• Nielsen PA, Beahm DL, Giepmans BN; et al. (2002). "Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1". J. Biol. Chem. 277 (41): 38272–83. doi:10.1074/jbc.M205348200. PMID 12154091. 
• Di WL, Monypenny J, Common JE; et al. (2003). "Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations". Hum. Mol. Genet. 11 (17): 2005–14. doi:10.1093/hmg/11.17.2005. PMID 12165562. 
• Diestel S, Richard G, Döring B, Traub O (2002). "Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells". Biochem. Biophys. Res. Commun. 296 (3): 721–8. doi:10.1016/S0006-291X(02)00929-4. PMID 12176042. 
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. 
• Mhatre AN, Weld E, Lalwani AK (2003). "Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment". Clin. Genet. 63 (2): 154–9. doi:10.1034/j.1399-0004.2003.00031.x. PMID 12630965. 
• Rouan F, Lo CW, Fertala A; et al. (2004). "Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro". Exp. Dermatol. 12 (2): 191–7. doi:10.1034/j.1600-0625.2003.120210.x. PMID 12702148. 
• 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. 
• 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. 

External links

• GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview