{{Short description|Protein found in humans}} {{Infobox_gene}} '''Collagen alpha-2(IX) chain''' is a protein that in humans is encoded by the ''COL9A2'' gene.<ref name="pmid8454052">{{cite journal | vauthors = Perala M, Hanninen M, Hastbacka J, Elima K, Vuorio E | title = Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1 | journal = FEBS Lett | volume = 319 | issue = 1–2 | pages = 177–80 |date=Apr 1993 | pmid = 8454052 | doi =10.1016/0014-5793(93)80062-Y | doi-access = free }}</ref><ref name="pmid8528240">{{cite journal | vauthors = Muragaki Y, Mariman EC, van Beersum SE, Perala M, van Mourik JB, Warman ML, Olsen BR, Hamel BC | title = A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2) | journal = Nat Genet | volume = 12 | issue = 1 | pages = 103–5 |date=Feb 1996 | pmid = 8528240 | doi = 10.1038/ng0196-103 | hdl = 2066/23763 | s2cid = 1033195 | hdl-access = free }}</ref><ref name="pmid1429648">{{cite journal | vauthors = Wu JJ, Woods PE, Eyre DR | title = Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding | journal = J Biol Chem | volume = 267 | issue = 32 | pages = 23007–14 |date=Dec 1992 | doi = 10.1016/S0021-9258(18)50048-X | pmid = 1429648 | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: COL9A2 collagen, type IX, alpha 2| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1298}}</ref>
This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia.<ref name="entrez"/>
==References== {{reflist}}
==External links== * [https://www.ncbi.nlm.nih.gov/books/NBK1123/ GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant]
==Further reading== {{refbegin | 2}} *{{cite journal | vauthors=Fahrig T, Landa C, Pesheva P |title=Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents |journal=EMBO J. |volume=6 |issue= 10 |pages= 2875–83 |year= 1988 |pmid= 2446864 |doi= 10.1002/j.1460-2075.1987.tb02590.x| pmc=553721 |display-authors=etal}} *{{cite journal | vauthors=McCormick D, van der Rest M, Goodship J |title=Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 12 |pages= 4044–8 |year= 1987 |pmid= 3473493 |doi=10.1073/pnas.84.12.4044 | pmc=305018 |bibcode=1987PNAS...84.4044M |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Warman ML, McCarthy MT, Perälä M |title=The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4 |journal=Genomics |volume=23 |issue= 1 |pages= 158–62 |year= 1995 |pmid= 7829066 |doi= 10.1006/geno.1994.1472 |display-authors=etal}} *{{cite journal | vauthors=Briggs MD, Choi H, Warman ML |title=Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene |journal=Am. J. Hum. Genet. |volume=55 |issue= 4 |pages= 678–84 |year= 1994 |pmid= 7942845 | pmc=1918298 |display-authors=etal}} *{{cite journal | vauthors=Warman ML, Tiller GE, Polumbo PA |title=Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1) |journal=Genomics |volume=17 |issue= 3 |pages= 694–8 |year= 1993 |pmid= 8244386 |doi=10.1006/geno.1993.1391 |display-authors=etal}} *{{cite journal | vauthors=Pihlajamaa T, Vuoristo MM, Annunen S |title=Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule |journal=Matrix Biol. |volume=17 |issue= 3 |pages= 237–41 |year= 1998 |pmid= 9707347 |doi=10.1016/S0945-053X(98)90063-4 |display-authors=etal}} *{{cite journal | vauthors=Holden P, Canty EG, Mortier GR |title=Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia |journal=Am. J. Hum. Genet. |volume=65 |issue= 1 |pages= 31–8 |year= 1999 |pmid= 10364514 |doi=10.1086/302440 | pmc=1378072 |display-authors=etal}} *{{cite journal | vauthors=Annunen S, Paassilta P, Lohiniva J |title=An allele of COL9A2 associated with intervertebral disc disease |journal=Science |volume=285 |issue= 5426 |pages= 409–12 |year= 1999 |pmid= 10411504 |doi=10.1126/science.285.5426.409 |display-authors=etal}} *{{cite journal | vauthors=Czarny-Ratajczak M, Lohiniva J, Rogala P |title=A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity |journal=Am. J. Hum. Genet. |volume=69 |issue= 5 |pages= 969–80 |year= 2001 |pmid= 11565064 |doi=10.1086/324023 | pmc=1274373 |display-authors=etal}} *{{cite journal | vauthors=Fertala A, Sieron AL, Adachi E, Jimenez SA |title=Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX |journal=Biochemistry |volume=40 |issue= 48 |pages= 14422–8 |year= 2002 |pmid= 11724554 |doi=10.1021/bi0109109 }} *{{cite journal | vauthors=Fiedler J, Stöve J, Heber F, Brenner RE |title=Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2) |journal=Am. J. Med. Genet. |volume=112 |issue= 2 |pages= 144–53 |year= 2003 |pmid= 12244547 |doi= 10.1002/ajmg.10554 }} *{{cite journal | vauthors=Matsui Y, Wu JJ, Weis MA |title=Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage |journal=Matrix Biol. |volume=22 |issue= 2 |pages= 123–9 |year= 2004 |pmid= 12782139 |doi=10.1016/S0945-053X(02)00102-6 |display-authors=etal}} *{{cite journal | vauthors=Kim MS, Hwang NS, Lee J |title=Musculoskeletal differentiation of cells derived from human embryonic germ cells |journal=Stem Cells |volume=23 |issue= 1 |pages= 113–23 |year= 2005 |pmid= 15625128 |doi= 10.1634/stemcells.2004-0110 |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Jim JJ, Noponen-Hietala N, Cheung KM |title=The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration |journal=Spine |volume=30 |issue= 24 |pages= 2735–42 |year= 2006 |pmid= 16371896 |doi=10.1097/01.brs.0000190828.85331.ef |s2cid=1028747 |display-authors=etal}} *{{cite journal | vauthors=Takahashi M, Matsui Y, Goto T |title=Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2) |journal=Clin. Rheumatol. |volume=25 |issue= 4 |pages= 591–5 |year= 2006 |pmid= 16440132 |doi= 10.1007/s10067-005-0034-z |s2cid=7753058 |display-authors=etal}} *{{cite journal | vauthors=Gregory SG, Barlow KF, McLay KE |title=The DNA sequence and biological annotation of human chromosome 1 |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |bibcode=2006Natur.441..315G |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Seki S, Kawaguchi Y, Mori M |title=Association study of COL9A2 with lumbar disc disease in the Japanese population |journal=J. Hum. Genet. |volume=51 |issue= 12 |pages= 1063–7 |year= 2007 |pmid= 17024315 |doi= 10.1007/s10038-006-0062-9 |display-authors=etal|doi-access=free }} {{refend}}
{{Fibrous proteins}}
Category:Collagens
{{gene-1-stub}}