From Wikipedia, the free encyclopedia
Protein found in humans
Collagen alpha-2(VI) chain is a
protein that in humans is encoded by the COL6A2
gene .
[5]
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.
[6]
[7] Three transcript variants have been identified for this gene.
[5]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000142173 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000020241 –
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 .
^
a
b
"Entrez Gene: COL6A2 collagen, type VI, alpha 2" .
^
"COLLAGEN, TYPE VI, ALPHA-2; COL6A2" . www.omim.org . Retrieved 2023-10-13 .
^ 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.
doi :
10.1212/01.wnl.0000327611.01687.5e .
ISSN
1526-632X .
PMID
18852439 .
S2CID
21554344 .
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.
doi :
10.1016/S0021-9258(18)42759-7 .
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.
doi :
10.1016/S0021-9258(18)42680-4 .
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.
doi :
10.1016/S0021-9258(19)39351-2 .
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.
doi :
10.1002/j.1460-2075.1989.tb03598.x .
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.
doi :
10.1016/S0021-9258(18)37327-7 .
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.
doi :
10.1091/mbc.4.11.1097 .
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 .
S2CID
26173341 .
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.
Bibcode :
2000Natur.405..311H .
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.
Bibcode :
2001PNAS...98.7516C .
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.
doi :
10.1212/wnl.58.4.593 .
PMID
11865138 .
S2CID
24273894 .
External links