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Wikipedia

GJB4

September 01, 2023

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.[5]

GJB4
Identifiers
AliasesGJB4, CX30.3, EKV, gap junction protein beta 4, EKVP2
External IDsOMIM: 605425 MGI: 95722 HomoloGene: 7339 GeneCards: GJB4
Orthologs
SpeciesHumanMouse
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 MbChr 4: 127.24 – 127.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

References Edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000189433 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046623 - 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: GJB4 gap junction protein, beta 4".

Further reading Edit

  • 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.


 

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

September 01, 2023
gjb4, junction, beta, protein, also, known, connexin, cx30, protein, that, humans, encoded, gene, identifiersaliases, cx30, junction, protein, beta, ekvp2external, idsomim, 605425, 95722, homologene, 7339, genecards, gene, location, human, chromosome, human, b. 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 5 GJB4IdentifiersAliasesGJB4 CX30 3 EKV gap junction protein beta 4 EKVP2External IDsOMIM 605425 MGI 95722 HomoloGene 7339 GeneCards GJB4Gene location Human Chr Chromosome 1 human 1 Band1p34 3Start34 759 740 bp 1 End34 762 327 bp 1 Gene location Mouse Chr Chromosome 4 mouse 2 Band4 D2 2 4 61 51 cMStart127 244 879 bp 2 End127 247 874 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inskin of abdomengallbladdervaginaislet of Langerhansthymusurinary bladderprostateminor salivary glandappendixrectumTop expressed inlipesophagusskin of backhair follicleskin of abdomencorneacervixstomachspinal cordmembranous labyrinthMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functiongap junction channel activityCellular componentconnexin complex integral component of membrane gap junction plasma membrane membrane nucleus nucleolus cell junction integral component of plasma membraneBiological processcell communication sensory perception of smell olfactory behavior cell cell signaling transmembrane transport gap junction mediated intercellular transportSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez12753414621EnsemblENSG00000189433ENSMUSG00000046623UniProtQ9NTQ9Q02738RefSeq mRNA NM 153212NM 008127RefSeq protein NP 694944NP 032153Location UCSC Chr 1 34 76 34 76 MbChr 4 127 24 127 25 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseReferences Edit a b c GRCh38 Ensembl release 89 ENSG00000189433 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000046623 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 Entrez Gene GJB4 gap junction protein beta 4 Further reading EditAndrew 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 Lopez 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 nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title GJB4 amp oldid 1115456469, wikipedia, wiki, book, books, library,

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