Collagen, type VI, alpha 2 explained

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 1, Ullrich congenital muscular dystrophy 1, and autosomal recessive myosclerosis myopathy.^{[2] [3]} Three transcript variants have been identified for this gene.

Further reading

• Bertini E, Pepe G . Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy . Eur. J. Paediatr. Neurol. . 6 . 4 . 193–8 . 2002 . 12374585 . 10.1053/ejpn.2002.0593 .
• Lampe AK, Bushby KM . Collagen VI related muscle disorders . J. Med. Genet. . 42 . 9 . 673–85 . 2006 . 16141002 . 10.1136/jmg.2002.002311 . 1736127 .
• Bidanset DJ . Binding of the proteoglycan decorin to collagen type VI . J. Biol. Chem. . 267 . 8 . 5250–6 . 1992 . 1544908 . Guidry C . Rosenberg LC . 3 . Choi . HU . Timpl . R . Hook . M . 10.1016/S0021-9258(18)42759-7 . free .
• Saitta B, Timpl R, Chu ML . Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon . J. Biol. Chem. . 267 . 9 . 6188–96 . 1992 . 10.1016/S0021-9258(18)42680-4 . 1556127 . free .
• Dawson SJ, White LA . Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin . J. Infect. . 24 . 3 . 317–20 . 1992 . 1602151 . 10.1016/S0163-4453(05)80037-4 .
• Saitta B . 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 . 1990 . 1690728 . Stokes DG . Vissing H . 3 . Timpl . R . Chu . ML . 10.1016/S0021-9258(19)39351-2 . free .
• Saitta B . 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 . 1992 . 1765372 . 10.1016/0888-7543(91)90111-Q . Wang YM . Renkart L . 3 . Zhang . Rui-Zhu . Pan . Te-Cheng . Timpl . Rupert . Chu . Mon-Li .
• Chu ML . 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 . 1989 . 2551668 . 10.1002/j.1460-2075.1989.tb03598.x. 401054 . Pan TC . Conway D . 3 . Kuo . HJ . Glanville . RW . Timpl . R . Mann . K . Deutzmann . R .
• Chu ML . Amino acid sequence of the triple-helical domain of human collagen type VI . J. Biol. Chem. . 263 . 35 . 18601–6 . 1989 . 3198591 . Conway D . Pan TC . 3 . Baldwin . C . Mann . K . Deutzmann . R . Timpl . R . 10.1016/S0021-9258(18)37327-7 . free .
• Weil D . Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen . Am. J. Hum. Genet. . 42 . 3 . 435–45 . 1988 . 3348212 . 1715162 . Mattei MG . Passage E . 3 . n'Guyen . VC . Pribula-Conway . D . Mann . K . Deutzmann . R . Timpl . R . Chu . ML .
• Chu ML . Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones . Eur. J. Biochem. . 168 . 2 . 309–17 . 1987 . 3665927 . 10.1111/j.1432-1033.1987.tb13422.x . Mann K . Deutzmann R . 3 . Pribula-Conway . Dorothy . Hsu-Chen . Chuen-Chin . Bernard . Michael P. . Timpl . Rupert .
• Jander R, Rauterberg J, Glanville RW . Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen) . Eur. J. Biochem. . 133 . 1 . 39–46 . 1983 . 6852033 . 10.1111/j.1432-1033.1983.tb07427.x .
• Tillet E . 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 . 1994 . 8168508 . 10.1111/j.1432-1033.1994.tb18727.x . Wiedemann H . Golbik R . 3 . Pan . Te-Cheng . Zhang . Rui-Zhu . Mann . Karlheinz . Chu . Mon-Li . Timpl . Rupert . free .
• Nishiyama A, Stallcup WB . Expression of NG2 proteoglycan causes retention of type VI collagen on the cell surface . Mol. Biol. Cell . 4 . 11 . 1097–108 . 1994 . 8305732 . 10.1091/mbc.4.11.1097. 275746 .
• Jöbsis GJ . Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures . Nat. Genet. . 14 . 1 . 113–5 . 1996 . 8782832 . 10.1038/ng0996-113 . Keizers H . Vreijling JP . 3 . Visser . Marianne de . Speer . Marcy C. . Wolterman . Ruud A. . Baas . Frank . Bolhuis . Pieter A. . 26173341 .
• Tillet E, Ruggiero F, Nishiyama A, Stallcup WB . 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 . 1997 . 9099729 . 10.1074/jbc.272.16.10769 . free .
• Kuo HJ, Maslen CL, Keene DR, Glanville RW . Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen . J. Biol. Chem. . 272 . 42 . 26522–9 . 1997 . 9334230 . 10.1074/jbc.272.42.26522 . free .
• Hattori M . The DNA sequence of human chromosome 21 . Nature . 405 . 6784 . 311–9 . 2000 . 10830953 . 10.1038/35012518 . Fujiyama A . Taylor TD . 3 . Taylor . T. D. . Watanabe . H. . Yada . T. . Park . H.-S. . Toyoda . A. . Ishii . K. . 2000Natur.405..311H . free .
• Camacho Vanegas O . Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI . Proc. Natl. Acad. Sci. U.S.A. . 98 . 13 . 7516–21 . 2001 . 11381124 . 10.1073/pnas.121027598 . 34700 . Bertini E . Zhang RZ . 3 . Petrini . S . Minosse . C . Sabatelli . P . Giusti . B . Chu . ML . Pepe . G . 2001PNAS...98.7516C . free .
• Scacheri PC . Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype . Neurology . 58 . 4 . 593–602 . 2002 . 11865138 . 10.1212/wnl.58.4.593. Gillanders EM . Subramony SH . 3 . Vedanarayanan . V . Crowe . CA . Thakore . N . Bingler . M . Hoffman . EP . 24273894 .

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview

Notes and References

1. Web site: Entrez Gene: COL6A2 collagen, type VI, alpha 2.
2. Web site: COLLAGEN, TYPE VI, ALPHA-2; COL6A2 . 2023-10-13 . www.omim.org . en-us.
3. Merlini . L. . Martoni . E. . Grumati . P. . Sabatelli . P. . Squarzoni . S. . Urciuolo . A. . Ferlini . A. . Gualandi . F. . Bonaldo . P. . 2008-10-14 . Autosomal recessive myosclerosis myopathy is a collagen VI disorder . Neurology . 71 . 16 . 1245–1253 . 10.1212/01.wnl.0000327611.01687.5e . 1526-632X . 18852439. 21554344 .