COL9A2

COL9A2
Identifiers
Aliases	COL9A2, DJ39G22.4, EDM2, MED, STL5, collagen type IX alpha 2, collagen type IX alpha 2 chain
External IDs	OMIM: 120260; MGI: 88466; HomoloGene: 37535; GeneCards: COL9A2; OMA: COL9A2 - orthologs
Gene location ( Human)
Chr.	Chromosome 1 (human)
End	40,317,813 bp
Gene location ( Mouse)
Chr.	Chromosome 4 (mouse)
End	120,912,519 bp
RNA expression pattern
	Top expressed in
	C1 segment; ; tibia; ; anterior pituitary; ; cartilage tissue; ; ganglionic eminence; ; amygdala; ; putamen; ; caudate nucleus; ; hypothalamus; ; nucleus accumbens;
	Top expressed in
	vestibular sensory epithelium; ; saccule; ; utricle; ; otic vesicle; ; molar; ; human vertebral column; ; Ileal epithelium; ; lens; ; axial skeleton; ; cochlea;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	extracellular matrix structural constituent conferring tensile strength; extracellular matrix structural constituent;
Cellular component	extracellular region; endoplasmic reticulum lumen; collagen; collagen type IX trimer; basement membrane; extracellular space; extracellular matrix; collagen-containing extracellular matrix;
Biological process	skeletal system development; extracellular matrix organization;
	Sources: Amigo / QuickGO
Orthologs
	1298
	12840
	ENSG00000049089
	ENSMUSG00000028626
	Q14055
	Q07643
	NM_001852
	NM_007741
	NP_001843
	NP_031767
	Wikidata
View/Edit Human	View/Edit Mouse

Collagen alpha-2(IX) chain is a protein that in humans is encoded by the COL9A2 gene.^[5]^[6]^[7]^[8]

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.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000049089 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028626 – 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.
^ Perala M, Hanninen M, Hastbacka J, Elima K, Vuorio E (Apr 1993). "Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1". FEBS Lett. 319 (1–2): 177–80. doi: 10.1016/0014-5793(93)80062-Y. PMID 8454052.
^ Muragaki Y, Mariman EC, van Beersum SE, Perala M, van Mourik JB, Warman ML, Olsen BR, Hamel BC (Feb 1996). "A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)". Nat Genet. 12 (1): 103–5. doi: 10.1038/ng0196-103. hdl: 2066/23763. PMID 8528240. S2CID 1033195.
^ Wu JJ, Woods PE, Eyre DR (Dec 1992). "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". J Biol Chem. 267 (32): 23007–14. doi: 10.1016/S0021-9258(18)50048-X. PMID 1429648.
^ ^a ^b "Entrez Gene: COL9A2 collagen, type IX, alpha 2".

External links

GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant

Fahrig T, Landa C, Pesheva P, et al. (1988). "Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents". EMBO J. 6 (10): 2875–83. doi: 10.1002/j.1460-2075.1987.tb02590.x. PMC 553721. PMID 2446864.
McCormick D, van der Rest M, Goodship J, et al. (1987). "Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan". Proc. Natl. Acad. Sci. U.S.A. 84 (12): 4044–8. Bibcode: 1987PNAS...84.4044M. doi: 10.1073/pnas.84.12.4044. PMC 305018. PMID 3473493.
Warman ML, McCarthy MT, Perälä M, et al. (1995). "The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4". Genomics. 23 (1): 158–62. doi: 10.1006/geno.1994.1472. PMID 7829066.
Briggs MD, Choi H, Warman ML, et al. (1994). "Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene". Am. J. Hum. Genet. 55 (4): 678–84. PMC 1918298. PMID 7942845.
Warman ML, Tiller GE, Polumbo PA, et al. (1993). "Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1)". Genomics. 17 (3): 694–8. doi: 10.1006/geno.1993.1391. PMID 8244386.
Pihlajamaa T, Vuoristo MM, Annunen S, et al. (1998). "Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule". Matrix Biol. 17 (3): 237–41. doi: 10.1016/S0945-053X(98)90063-4. PMID 9707347.
Holden P, Canty EG, Mortier GR, et al. (1999). "Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia". Am. J. Hum. Genet. 65 (1): 31–8. doi: 10.1086/302440. PMC 1378072. PMID 10364514.
Annunen S, Paassilta P, Lohiniva J, et al. (1999). "An allele of COL9A2 associated with intervertebral disc disease". Science. 285 (5426): 409–12. doi: 10.1126/science.285.5426.409. PMID 10411504.
Czarny-Ratajczak M, Lohiniva J, Rogala P, et al. (2001). "A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity". Am. J. Hum. Genet. 69 (5): 969–80. doi: 10.1086/324023. PMC 1274373. PMID 11565064.
Fertala A, Sieron AL, Adachi E, Jimenez SA (2002). "Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX". Biochemistry. 40 (48): 14422–8. doi: 10.1021/bi0109109. PMID 11724554.
Fiedler J, Stöve J, Heber F, Brenner RE (2003). "Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)". Am. J. Med. Genet. 112 (2): 144–53. doi: 10.1002/ajmg.10554. PMID 12244547.
Matsui Y, Wu JJ, Weis MA, et al. (2004). "Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage". Matrix Biol. 22 (2): 123–9. doi: 10.1016/S0945-053X(02)00102-6. PMID 12782139.
Kim MS, Hwang NS, Lee J, et al. (2005). "Musculoskeletal differentiation of cells derived from human embryonic germ cells". Stem Cells. 23 (1): 113–23. doi: 10.1634/stemcells.2004-0110. PMID 15625128.
Jim JJ, Noponen-Hietala N, Cheung KM, et al. (2006). "The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration". Spine. 30 (24): 2735–42. doi: 10.1097/01.brs.0000190828.85331.ef. PMID 16371896. S2CID 1028747.
Takahashi M, Matsui Y, Goto T, et al. (2006). "Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)". Clin. Rheumatol. 25 (4): 591–5. doi: 10.1007/s10067-005-0034-z. PMID 16440132. S2CID 7753058.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode: 2006Natur.441..315G. doi: 10.1038/nature04727. PMID 16710414.
Seki S, Kawaguchi Y, Mori M, et al. (2007). "Association study of COL9A2 with lumbar disc disease in the Japanese population". J. Hum. Genet. 51 (12): 1063–7. doi: 10.1007/s10038-006-0062-9. PMID 17024315.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000049089 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028626 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8454052-5] Perala M, Hanninen M, Hastbacka J, Elima K, Vuorio E (Apr 1993). "Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1". FEBS Lett. 319 (1–2): 177–80. doi: 10.1016/0014-5793(93)80062-Y. PMID 8454052.

[pmid8528240-6] Muragaki Y, Mariman EC, van Beersum SE, Perala M, van Mourik JB, Warman ML, Olsen BR, Hamel BC (Feb 1996). "A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)". Nat Genet. 12 (1): 103–5. doi: 10.1038/ng0196-103. hdl: 2066/23763. PMID 8528240. S2CID 1033195.

[pmid1429648-7] Wu JJ, Woods PE, Eyre DR (Dec 1992). "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". J Biol Chem. 267 (32): 23007–14. doi: 10.1016/S0021-9258(18)50048-X. PMID 1429648.

[entrez-8] "Entrez Gene: COL9A2 collagen, type IX, alpha 2".

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