- GJB6
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Gap junction protein, beta 6, 30kDa Identifiers Symbols GJB6; CX30; DFNA3; DFNA3B; DFNB1B; ED2; EDH; HED External IDs OMIM: 604418 MGI: 107588 HomoloGene: 4936 GeneCards: GJB6 Gene Gene Ontology Molecular function • antigen binding
• protein binding
• gap-junction channel activityCellular component • plasma membrane
• connexon complex
• integral to membrane
• cell junction
• intracellular membrane-bounded organelleBiological process • cell communication
• sensory perception of sound
• ear morphogenesisSources: Amigo / QuickGO Orthologs Species Human Mouse Entrez 10804 14623 Ensembl ENSG00000121742 ENSMUSG00000040055 UniProt O95452 Q3URC5 RefSeq (mRNA) NM_001110219.2 NM_001010937 RefSeq (protein) NP_001103689.1 NP_001010937 Location (UCSC) Chr 13:
20.8 – 20.81 MbChr 14:
57.74 – 57.75 MbPubMed search [1] [2] Gap junction beta-6 protein is a protein that in humans is encoded by the GJB6 gene.[1][2][3]
Contents
Function
The connexin gene family codes for the protein subunits of gap junction channels that mediate direct diffusion of ions and metabolites between the cytoplasm of adjacent cells. Connexins span the plasma membrane 4 times, with amino- and carboxy-terminal regions facing the cytoplasm. Connexin genes are expressed in a cell type-specific manner with overlapping specificity. The gap junction channels have unique properties depending on the type of connexins constituting the channel.[supplied by OMIM][3]
References
- ^ Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P (Sep 1999). "Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus". Nat Genet 23 (1): 16–8. doi:10.1038/12612. PMID 10471490.
- ^ Kibar Z, Der Kaloustian VM, Brais B, Hani V, Fraser FC, Rouleau GA (Oct 1996). "The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q". Hum Mol Genet 5 (4): 543–7. doi:10.1093/hmg/5.4.543. PMID 8845850.
- ^ a b "Entrez Gene: GJB6 gap junction protein, beta 6". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10804.
Further reading
- Stoppini M, Bellotti V, Negri A, et al. (1995). "Characterization of the two unique human anti-flavin monoclonal immunoglobulins.". Eur. J. Biochem. 228 (3): 886–93. doi:10.1111/j.1432-1033.1995.tb20336.x. PMID 7737190.
- Eggena M, Targan SR, Iwanczyk L, et al. (1996). "Phage display cloning and characterization of an immunogenetic marker (perinuclear anti-neutrophil cytoplasmic antibody) in ulcerative colitis.". J. Immunol. 156 (10): 4005–11. PMID 8621942.
- Radhakrishna U, Blouin JL, Mehenni H, et al. (1997). "The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region.". Am. J. Med. Genet. 71 (1): 80–6. doi:10.1002/(SICI)1096-8628(19970711)71:1<80::AID-AJMG15>3.0.CO;2-R. PMID 9215774.
- Clausen BE, Bridges SL, Lavelle JC, et al. (1998). "Clonally-related immunoglobulin VH domains and nonrandom use of DH gene segments in rheumatoid arthritis synovium.". Mol. Med. 4 (4): 240–57. PMC 2230361. PMID 9606177. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2230361.
- Kelley PM, Abe S, Askew JW, et al. (2000). "Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.". Genomics 62 (2): 172–6. doi:10.1006/geno.1999.6002. PMID 10610709.
- Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=16267.
- Lamartine J, Munhoz Essenfelder G, Kibar Z, et al. (2000). "Mutations in GJB6 cause hidrotic ectodermal dysplasia.". Nat. Genet. 26 (2): 142–4. doi:10.1038/79851. PMID 11017065.
- Rash JE, Yasumura T, Dudek FE, Nagy JI (2001). "Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons.". J. Neurosci. 21 (6): 1983–2000. PMC 1804287. PMID 11245683. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1804287.
- Lerer I, Sagi M, Ben-Neriah Z, et al. (2002). "A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.". Hum. Mutat. 18 (5): 460. doi:10.1002/humu.1222. PMID 11668644.
- del Castillo I, Villamar M, Moreno-Pelayo MA, et al. (2002). "A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.". N. Engl. J. Med. 346 (4): 243–9. doi:10.1056/NEJMoa012052. PMID 11807148.
- Smith FJ, Morley SM, McLean WH (2002). "A novel connexin 30 mutation in Clouston syndrome.". J. Invest. Dermatol. 118 (3): 530–2. doi:10.1046/j.0022-202x.2001.01689.x. PMID 11874494.
- Pallares-Ruiz N, Blanchet P, Mondain M, et al. (2002). "A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?". Eur. J. Hum. Genet. 10 (1): 72–6. doi:10.1038/sj.ejhg.5200762. PMID 11896458.
- Common JE, Becker D, Di WL, et al. (2003). "Functional studies of human skin disease- and deafness-associated connexin 30 mutations.". Biochem. Biophys. Res. Commun. 298 (5): 651–6. doi:10.1016/S0006-291X(02)02517-2. PMID 12419304.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Beltramello M, Bicego M, Piazza V, et al. (2003). "Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells.". Biochem. Biophys. Res. Commun. 305 (4): 1024–33. doi:10.1016/S0006-291X(03)00868-4. PMID 12767933.
- Zhang XJ, Chen JJ, Yang S, et al. (2004). "A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.". J. Dermatol. Sci. 32 (1): 11–7. doi:10.1016/S0923-1811(03)00033-1. PMID 12788524.
- Pandya A, Arnos KS, Xia XJ, et al. (2004). "Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.". Genet. Med. 5 (4): 295–303. doi:10.1097/01.GIM.0000078026.01140.68. PMID 12865758.
- Günther B, Steiner A, Nekahm-Heis D, et al. (2004). "The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.". Hum. Mutat. 22 (2): 180. doi:10.1002/humu.9167. PMID 12872268.
- Harris, A and Locke, D (2009). Connexins, A Guide. New York: Springer. pp. 574. ISBN 978-1-934115-46-6. http://www.springer.com/978-1-934115-46-6.
External Links
- GeneReviews/NCBI/NIH/UW entry on Hidrotic Ectodermal Dysplasia 2
- OMIM entries on Hidrotic Ectodermal Dysplasia 2
- GeneReviews/NCBI/NIH/UW entry on Nonsyndromic Hearing Loss and Deafness, DFNA3
- GeneReviews/NCBI/NIH/UW entry on Nonsyndromic Hearing Loss and Deafness, DFNB1
Ca2+: Calcium channel Ligand-gatedNa+: Sodium channel Constitutively activeProton gatedK+: Potassium channel Kvα1-6 (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8) · (2.1, 2.2) · (3.1, 3.2, 3.3, 3.4) · (4.1, 4.2, 4.3) · (5.1) · (6.1, 6.2, 6.3, 6.4)
Kvα7-12 (7.1, 7.2, 7.3, 7.4, 7.5) · (8.1, 8.2) · (9.1, 9.2, 9.3) · (10.1, 10.2) · (11.1/hERG, 11.2, 11.3) · (12.1, 12.2, 12.3)
Kvβ (1, 2, 3) · KCNIP (1, 2, 3, 4) · minK/ISK · minK/ISK-like · MiRP (1, 2, 3) · Shaker geneOther Cl-: Chloride channelHVCN1GeneralCategories:- Human proteins
- Chromosome 13 gene stubs
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