GJA4
From Wikipedia, the free encyclopedia
Gap junction protein, alpha 4, 37kDa
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Identifiers | ||||||||||||||
Symbol(s) | GJA4; CX37 | |||||||||||||
External IDs | OMIM: 121012 MGI: 95715 HomoloGene: 1556 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 2701 | 14612 | ||||||||||||
Ensembl | ENSG00000187513 | ENSMUSG00000050234 | ||||||||||||
Uniprot | P35212 | Q3UPZ2 | ||||||||||||
Refseq | NM_002060 (mRNA) NP_002051 (protein) |
NM_008120 (mRNA) NP_032146 (protein) |
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Location | Chr 1: 35.03 - 35.03 Mb | Chr 4: 126.81 - 126.82 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Gap junction protein, alpha 4, 37kDa, also known as GJA4, is a human gene.[1]
This gene encodes 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 have been associated with atherosclerosis and a higher risk of myocardial infarction.[1]
[edit] References
[edit] Further reading
- Beyer EC, Paul DL, Goodenough DA (1990). "Connexin family of gap junction proteins.". J. Membr. Biol. 116 (3): 187–94. PMID 2167375.
- Haefliger JA, Bruzzone R, Jenkins NA, et al. (1992). "Four novel members of the connexin family of gap junction proteins. Molecular cloning, expression, and chromosome mapping.". J. Biol. Chem. 267 (3): 2057–64. PMID 1370487.
- Risek B, Guthrie S, Kumar N, Gilula NB (1990). "Modulation of gap junction transcript and protein expression during pregnancy in the rat.". J. Cell Biol. 110 (2): 269–82. PMID 1688855.
- Willecke K, Jungbluth S, Dahl E, et al. (1991). "Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes.". Eur. J. Cell Biol. 53 (2): 275–80. PMID 1964417.
- Reed KE, Westphale EM, Larson DM, et al. (1993). "Molecular cloning and functional expression of human connexin37, an endothelial cell gap junction protein.". J. Clin. Invest. 91 (3): 997–1004. PMID 7680674.
- Van Camp G, Coucke P, Speleman F, et al. (1996). "The gene for human gap junction protein connexin37 (GJA4) maps to chromosome 1p35.1, in the vicinity of D1S195.". Genomics 30 (2): 402–3. PMID 8586454.
- Krutovskikh V, Mironov N, Yamasaki H (1996). "Human connexin 37 is polymorphic but not mutated in tumours.". Carcinogenesis 17 (8): 1761–3. PMID 8761439.
- Simon AM, Goodenough DA, Li E, Paul DL (1997). "Female infertility in mice lacking connexin 37.". Nature 385 (6616): 525–9. doi: . PMID 9020357.
- Krenacs T, Rosendaal M (1998). "Connexin43 gap junctions in normal, regenerating, and cultured mouse bone marrow and in human leukemias: their possible involvement in blood formation.". Am. J. Pathol. 152 (4): 993–1004. PMID 9546360.
- van Rijen HV, van Kempen MJ, Postma S, Jongsma HJ (1998). "Tumour necrosis factor alpha alters the expression of connexin43, connexin40, and connexin37 in human umbilical vein endothelial cells.". Cytokine 10 (4): 258–64. doi: . PMID 9617570.
- 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: . PMID 9843209.
- Boerma M, Forsberg L, Van Zeijl L, et al. (1999). "A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development.". J. Intern. Med. 246 (2): 211–8. PMID 10447790.
- Saito T, Krutovskikh V, Marion MJ, et al. (2000). "Human hemangiosarcomas have a common polymorphism but no mutations in the connexin37 gene.". Int. J. Cancer 86 (1): 67–70. PMID 10728596.
- Suzuki Y, Taira H, Tsunoda T, et al. (2001). "Diverse transcriptional initiation revealed by fine, large-scale mapping of mRNA start sites.". EMBO Rep. 2 (5): 388–93. doi: . PMID 11375929.
- 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: . PMID 12477932.
- Tsai MY, Lan KC, Huang KE, et al. (2004). "Significance of mRNA levels of connexin37, connexin43, and connexin45 in luteinized granulosa cells of controlled hyperstimulated follicles.". Fertil. Steril. 80 (6): 1437–43. PMID 14667880.
- Seul KH, Kang KY, Lee KS, et al. (2004). "Adenoviral delivery of human connexin37 induces endothelial cell death through apoptosis.". Biochem. Biophys. Res. Commun. 319 (4): 1144–51. doi: . PMID 15194487.
- Kameritsch P, Khandoga N, Nagel W, et al. (2005). "Nitric oxide specifically reduces the permeability of Cx37-containing gap junctions to small molecules.". J. Cell. Physiol. 203 (1): 233–42. doi: . PMID 15481066.
- 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: . PMID 15489334.