Collagen, type IX, alpha 3

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COL9A3
Identifiers
AliasesCOL9A3, DJ885L7.4.1, EDM3, IDD, MED, collagen type IX alpha 3, collagen type IX alpha 3 chain
External IDsMGI: 894686 HomoloGene: 20438 GeneCards: COL9A3
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for COL9A3
Genomic location for COL9A3
Band20q13.33Start62,816,244 bp[1]
End62,841,159 bp[1]
RNA expression pattern
PBB GE COL9A3 204724 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001853

NM_009936

RefSeq (protein)

NP_001844

n/a

Location (UCSC)Chr 20: 62.82 – 62.84 MbChr 2: 180.6 – 180.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene.[5][6][7]

Function[edit]

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. Mutations in this gene are associated with multiple epiphyseal dysplasia.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000092758 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027570 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Brewton RG, Wood BM, Ren ZX, Gong Y, Tiller GE, Warman ML, Lee B, Horton WA, Olsen BR, Baker JR, et al. (Mar 1996). "Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3". Genomics. 30 (2): 329–36. doi:10.1006/geno.1995.9870. PMID 8586434. 
  6. ^ 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. 
  7. ^ a b "Entrez Gene: COL9A3 collagen, type IX, alpha 3". 

External links[edit]

Further reading[edit]