GJB3

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".

Andrew L Harris, 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. hdl:1765/54417. 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. hdl:2066/26199. 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. S2CID 841727.
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 (inactive 2024-11-02). PMID 10798362.{{cite journal}}: CS1 maint: DOI inactive as of November 2024 (link)
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. Bibcode:2002PNAS...9916899M. 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. S2CID 21913344.
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. S2CID 35880502.
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

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000188910 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000042367 – 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.

[pmid9843210-5] 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.

[pmid9704026-6] 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.

[entrez-7] "Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa".

[1]

[2]

[3]

[4]

[5]

[6]

[7]

Function

References

Further reading

External links