Collagen, type IX, alpha 2

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COL9A2
Identifiers
AliasesCOL9A2, DJ39G22.4, EDM2, MED, STL5, collagen type IX alpha 2, collagen type IX alpha 2 chain
External IDsMGI: 88466 HomoloGene: 37535 GeneCards: COL9A2
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for COL9A2
Genomic location for COL9A2
Band1p34.2Start40,300,487 bp[1]
End40,317,813 bp[1]
RNA expression pattern
PBB GE COL9A2 213622 at fs.png
More reference expression data
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: 121.04 – 121.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000049089 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028626 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. PMID 8528240. 
  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. PMID 1429648. 
  8. ^ a b "Entrez Gene: COL9A2 collagen, type IX, alpha 2". 

External links[edit]

Further reading[edit]