COL9A2

COL9A2

Collagen, type IX, alpha 2, also known as COL9A2, is a human gene.cite web | title = Entrez Gene: COL9A2 collagen, type IX, alpha 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1298| accessdate = ]

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: COL9A2 collagen, type IX, alpha 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1298| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Fahrig T, Landa C, Pesheva P, "et al." |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=
*cite journal | author=McCormick D, van der Rest M, Goodship J, "et al." |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=
*cite journal | author=Warman ML, McCarthy MT, Perälä M, "et al." |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
*cite journal | author=Briggs MD, Choi H, Warman ML, "et al." |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 |doi=
*cite journal | author=Warman ML, Tiller GE, Polumbo PA, "et al." |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=
*cite journal | author=Perälä M, Hänninen M, Hästbacka J, "et al." |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 |year= 1993 |pmid= 8454052 |doi=
*cite journal | author=Muragaki Y, Mariman EC, van Beersum SE, "et al." |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 |year= 1996 |pmid= 8528240 |doi= 10.1038/ng0196-103
*cite journal | author=Pihlajamaa T, Vuoristo MM, Annunen S, "et al." |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=
*cite journal | author=Holden P, Canty EG, Mortier GR, "et al." |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=
*cite journal | author=Annunen S, Paassilta P, Lohiniva J, "et al." |title=An allele of COL9A2 associated with intervertebral disc disease. |journal=Science |volume=285 |issue= 5426 |pages= 409–12 |year= 1999 |pmid= 10411504 |doi=
*cite journal | author=Czarny-Ratajczak M, Lohiniva J, Rogala P, "et al." |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=
*cite journal | author=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=
*cite journal | author=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 | author=Matsui Y, Wu JJ, Weis MA, "et al." |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=
*cite journal | author=Kim MS, Hwang NS, Lee J, "et al." |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
*cite journal | author=Jim JJ, Noponen-Hietala N, Cheung KM, "et al." |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=
*cite journal | author=Takahashi M, Matsui Y, Goto T, "et al." |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
*cite journal | author=Gregory SG, Barlow KF, McLay KE, "et al." |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
*cite journal | author=Seki S, Kawaguchi Y, Mori M, "et al." |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

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