Collagen, type IX, alpha 2

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

COL9A2
Identifiers
AliasesCOL9A2, DJ39G22.4, EDM2, MED, STL5, collagen type IX alpha 2, collagen type IX alpha 2 chain
External IDsOMIM: 120260; MGI: 88466; HomoloGene: 37535; GeneCards: COL9A2; OMA:COL9A2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001852

NM_007741

RefSeq (protein)

NP_001843

NP_031767

Location (UCSC)Chr 1: 40.3 – 40.32 MbChr 4: 120.9 – 120.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000049089Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028626Ensembl, 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.
  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.
  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.
  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.
  8. ^ a b "Entrez Gene: COL9A2 collagen, type IX, alpha 2".
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Further reading

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