Collagen, type V, alpha 2 explained

Collagen alpha-2(V) chain is a protein that in humans is encoded by the COL5A2 gene.^{[1] [2]}

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, classical type, formerly known as types I and II.

See also

• Type-V collagen
• TSR1

Further reading

• Mann K . Isolation of the alpha 3-chain of human type V collagen and characterization by partial sequencing . Biol. Chem. Hoppe-Seyler . 373 . 2 . 69–75 . 1992 . 1571108 . 10.1515/bchm3.1992.373.1.69 .
• Greenspan DS, Lee ST, Lee BS, Hoffman GG . Homology between alpha 2(V) and alpha 1(III) collagen promoters and evidence for negatively acting elements in the alpha 2(V) first intron and 5' flanking sequences . Gene Expr. . 1 . 1 . 29–39 . 1992 . 1820205 . 5952197 .
• Myers JC, Loidl HR, Seyer JM, Dion AS . Complete primary structure of the human alpha 2 type V procollagen COOH-terminal propeptide . J. Biol. Chem. . 260 . 20 . 11216–22 . 1985 . 10.1016/S0021-9258(17)39168-8 . 2411731 . free .
• Woodbury D, Benson-Chanda V, Ramirez F . Amino-terminal propeptide of human pro-alpha 2(V) collagen conforms to the structural criteria of a fibrillar procollagen molecule . J. Biol. Chem. . 264 . 5 . 2735–8 . 1989 . 10.1016/S0021-9258(19)81674-5 . 2914927 . free .
• Myers JC, Loidl HR, Stolle CA, Seyer JM . Partial covalent structure of the human alpha 2 type V collagen chain . J. Biol. Chem. . 260 . 9 . 5533–41 . 1985 . 10.1016/S0021-9258(18)89055-X . 2985598 . free .
• Weil D, Bernard M, Gargano S, Ramirez F . The pro alpha 2(V) collagen gene is evolutionarily related to the major fibrillar-forming collagens . Nucleic Acids Res. . 15 . 1 . 181–98 . 1987 . 3029669 . 10.1093/nar/15.1.181 . 340404 .
• Tsipouras P . Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2 . Genomics . 3 . 3 . 275–7 . 1989 . 3224983 . 10.1016/0888-7543(88)90089-4 . vanc. Schwartz RC . Liddell AC . 3 . Salkeld . C.Scott . Weil . Dominique . Ramirez . Francesco .
• Emanuel BS, Cannizzaro LA, Seyer JM, Myers JC . Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2 . Proc. Natl. Acad. Sci. U.S.A. . 82 . 10 . 3385–9 . 1985 . 3858826 . 10.1073/pnas.82.10.3385 . 397780 . 1985PNAS...82.3385E . free .
• Moradi-Améli M . Diversity in the processing events at the N-terminus of type-V collagen . Eur. J. Biochem. . 221 . 3 . 987–95 . 1994 . 8181482 . 10.1111/j.1432-1033.1994.tb18815.x . vanc. Rousseau JC . Kleman JP . 3 . Champliaud . Marie-France . Boutillon . Marguerite-Marie . Bernillon . Jacques . Wallach . Jean . Rest . Michel . free .
• Wright GD, Hughes AE, Regan M, Doherty M . Association of two loci on chromosome 2q with nodal osteoarthritis . Ann. Rheum. Dis. . 55 . 5 . 317–9 . 1996 . 8660106 . 10.1136/ard.55.5.317 . 1010169 .
• Michalickova K . Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I . Hum. Mol. Genet. . 7 . 2 . 249–55 . 1998 . 9425231 . 10.1093/hmg/7.2.249 . vanc. Susic M . Willing MC . 3 . Wenstrup . RJ . Cole . WG .
• Bertelli R . Cell-specific regulation of alpha1(III) and alpha2(V) collagen by TGF-beta1 in tubulointerstitial cell models . Nephrol. Dial. Transplant. . 13 . 3 . 573–9 . 1998 . 9550630 . 10.1093/ndt/13.3.573 . vanc. Valenti F . Oleggini R . 3 . Caridi . G . Altieri . P . Coviello . DA . Botti . G . Ravazzolo . R . Ghiggeri . GM . free .
• Shrivastava A . An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors . Mol. Cell . 1 . 1 . 25–34 . 1998 . 9659900 . 10.1016/S1097-2765(00)80004-0 . vanc. Radziejewski C . Campbell E . 3 . Kovac . Lubomir . McGlynn . Marion . Ryan . Terence E . Davis . Sam . Goldfarb . Mitchell P . Glass . David J . free .
• Richards AJ . A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II . J. Med. Genet. . 35 . 10 . 846–8 . 1999 . 9783710 . 10.1136/jmg.35.10.846 . 1051462 . vanc. Martin S . Nicholls AC . 3 . Harrison . J B . Pope . F M . Burrows . N P .
• Wenstrup RJ . COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS . Am. J. Hum. Genet. . 66 . 6 . 1766–76 . 2001 . 10777716 . 10.1086/302930 . 1378044 . vanc. Florer JB . Willing MC . 3 . Giunta . Cecilia . Steinmann . Beat . Young . Felix . Susic . Miki . Cole . William G. .
• Välkkilä M . Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes . Matrix Biol. . 20 . 5–6 . 357–66 . 2002 . 11566270 . 10.1016/S0945-053X(01)00145-7 . vanc. Melkoniemi M . Kvist L . 3 . Kuivaniemi . Helena . Tromp . Gerard . Ala-Kokko . Leena .
• Unsöld C . Biosynthetic processing of the pro-alpha 1(V)2pro-alpha 2(V) collagen heterotrimer by bone morphogenetic protein-1 and furin-like proprotein convertases . J. Biol. Chem. . 277 . 7 . 5596–602 . 2002 . 11741999 . 10.1074/jbc.M110003200 . vanc. Pappano WN . Imamura Y . 3 . Steiglitz . BM . Greenspan . DS . free .
• Grond-Ginsbach C . Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections . Neurology . 58 . 7 . 1103–5 . 2002 . 11940702 . 10.1212/wnl.58.7.1103. vanc. Wigger F . Morcher M . 3 . Von Pein . F . Grau . A . Hausser . I . Brandt . T . 11310943 .
• Takahara K . Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I . Am. J. Hum. Genet. . 71 . 3 . 451–65 . 2002 . 12145749 . 10.1086/342099 . 379186 . vanc. Schwarze U . Imamura Y . 3 . Hoffman . Guy G. . Toriello . Helga . Smith . Lynne T. . Byers . Peter H. . Greenspan . Daniel S. .
• Strausberg RL . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .

External links

• Ehlers-Danlos Syndrome, Classic Type. Includes: Ehlers-Danlos Syndrome Type I, Ehlers-Danlos Syndrome Type II

Notes and References

1. Greenspan DS, Byers MG, Eddy RL, Cheng W, Jani-Sait S, Shows TB . Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome . Genomics . 12 . 4 . 836–7 . May 1992 . 1572660 . 10.1016/0888-7543(92)90320-R .
2. Web site: Entrez Gene: COL5A2 collagen, type V, alpha 2.