COL9A2

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Collagen, type IX, alpha 2
Identifiers
Symbols COL9A2 ; DJ39G22.4; EDM2; MED; STL5
External IDs OMIM120260 MGI88466 HomoloGene37535 GeneCards: COL9A2 Gene
RNA expression pattern
PBB GE COL9A2 213622 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1298 12840
Ensembl ENSG00000049089 ENSMUSG00000028626
UniProt Q14055 Q8K2W0
RefSeq (mRNA) NM_001852 NM_007741
RefSeq (protein) NP_001843 NP_031767
Location (UCSC) Chr 1:
40.77 – 40.78 Mb
Chr 4:
121.04 – 121.06 Mb
PubMed search [1] [2]

Collagen alpha-2(IX) chain is a protein that in humans is encoded by the COL9A2 gene.[1][2][3][4]

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.[4]

References[edit]

  1. ^ 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. 
  2. ^ 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. PMID 8528240. 
  3. ^ 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. PMID 1429648. 
  4. ^ a b "Entrez Gene: COL9A2 collagen, type IX, alpha 2". 

External links[edit]

Further reading[edit]