COL6A2
From Wikipedia, the free encyclopedia
| Collagen, type VI, alpha 2 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | COL6A2; PP3610 | ||||||||||||
| External IDs | OMIM: 120240 MGI: 88460 HomoloGene: 1392 GeneCards: COL6A2 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
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| Species | Human | Mouse | |||||||||||
| Entrez | 1292 | 12834 | |||||||||||
| Ensembl | ENSG00000142173 | ENSMUSG00000020241 | |||||||||||
| UniProt | P12110 | Q02788 | |||||||||||
| RefSeq (mRNA) | NM_001849 | NM_146007 | |||||||||||
| RefSeq (protein) | NP_001840 | NP_666119 | |||||||||||
| Location (UCSC) | Chr 21: 47.52 – 47.55 Mb | Chr 10: 76.6 – 76.62 Mb | |||||||||||
| PubMed search | |||||||||||||
Collagen alpha-2(VI) chain is a protein that in humans is encoded by the COL6A2 gene.[1]
Function
This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene.[1]
References
Further reading
- Bertini E, Pepe G (2002). "Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy". Eur. J. Paediatr. Neurol. 6 (4): 193–8. doi:10.1053/ejpn.2002.0593. PMID 12374585.
- Lampe AK, Bushby KM (2006). "Collagen VI related muscle disorders". J. Med. Genet. 42 (9): 673–85. doi:10.1136/jmg.2002.002311. PMC 1736127. PMID 16141002.
- Bidanset DJ, Guidry C, Rosenberg LC et al. (1992). "Binding of the proteoglycan decorin to collagen type VI". J. Biol. Chem. 267 (8): 5250–6. PMID 1544908.
- Saitta B, Timpl R, Chu ML (1992). "Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon". J. Biol. Chem. 267 (9): 6188–96. PMID 1556127.
- Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". J. Infect. 24 (3): 317–20. doi:10.1016/S0163-4453(05)80037-4. PMID 1602151.
- Saitta B, Stokes DG, Vissing H et al. (1990). "Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini". J. Biol. Chem. 265 (11): 6473–80. PMID 1690728.
- Saitta B, Wang YM, Renkart L et al. (1992). "The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar". Genomics 11 (1): 145–53. doi:10.1016/0888-7543(91)90111-Q. PMID 1765372.
- Chu ML, Pan TC, Conway D et al. (1989). "Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus". EMBO J. 8 (7): 1939–46. PMC 401054. PMID 2551668.
- Chu ML, Conway D, Pan TC et al. (1989). "Amino acid sequence of the triple-helical domain of human collagen type VI". J. Biol. Chem. 263 (35): 18601–6. PMID 3198591.
- Weil D, Mattei MG, Passage E et al. (1988). "Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen". Am. J. Hum. Genet. 42 (3): 435–45. PMC 1715162. PMID 3348212.
- Chu ML, Mann K, Deutzmann R et al. (1987). "Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones". Eur. J. Biochem. 168 (2): 309–17. doi:10.1111/j.1432-1033.1987.tb13422.x. PMID 3665927.
- Jander R, Rauterberg J, Glanville RW (1983). "Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen)". Eur. J. Biochem. 133 (1): 39–46. doi:10.1111/j.1432-1033.1983.tb07427.x. PMID 6852033.
- Tillet E, Wiedemann H, Golbik R et al. (1994). "Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI". Eur. J. Biochem. 221 (1): 177–85. doi:10.1111/j.1432-1033.1994.tb18727.x. PMID 8168508.
- Nishiyama A, Stallcup WB (1994). "Expression of NG2 proteoglycan causes retention of type VI collagen on the cell surface". Mol. Biol. Cell 4 (11): 1097–108. PMC 275746. PMID 8305732.
- Jöbsis GJ, Keizers H, Vreijling JP et al. (1996). "Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures". Nat. Genet. 14 (1): 113–5. doi:10.1038/ng0996-113. PMID 8782832.
- Tillet E, Ruggiero F, Nishiyama A, Stallcup WB (1997). "The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein". J. Biol. Chem. 272 (16): 10769–76. doi:10.1074/jbc.272.16.10769. PMID 9099729.
- Kuo HJ, Maslen CL, Keene DR, Glanville RW (1997). "Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen". J. Biol. Chem. 272 (42): 26522–9. doi:10.1074/jbc.272.42.26522. PMID 9334230.
- Hattori M, Fujiyama A, Taylor TD et al. (2000). "The DNA sequence of human chromosome 21". Nature 405 (6784): 311–9. doi:10.1038/35012518. PMID 10830953.
- Camacho Vanegas O, Bertini E, Zhang RZ et al. (2001). "Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7516–21. doi:10.1073/pnas.121027598. PMC 34700. PMID 11381124.
- Scacheri PC, Gillanders EM, Subramony SH et al. (2002). "Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype". Neurology 58 (4): 593–602. PMID 11865138.
External links
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