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Collagen, type I, alpha 2
Symbols COL1A2 ; OI4
External IDs Template:OMIM5 Template:MGI HomoloGene69
RNA expression pattern
PBB GE COL1A2 202403 s at tn.png
PBB GE COL1A2 202404 s at tn.png
More reference expression data
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a


Collagen, type I, alpha 2, also known as COL1A2, is a human gene.

This gene encodes one of the chains for type I collagen, the fibrillar collagen found in most connective tissues. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for alpha-1 type I collagen since alpha-2 is less abundant. Multiple messages for this gene result from multiple polyadenylation signals, a feature shared by most of the other collagen genes.[1]

See also


  1. "Entrez Gene: COL1A2 collagen, type I, alpha 2".

Further reading

  • Byers PH, Wallis GA, Willing MC (1991). "Osteogenesis imperfecta: translation of mutation to phenotype". J. Med. Genet. 28 (7): 433–42. PMID 1895312.
  • Kuivaniemi H, Tromp G, Prockop DJ (1991). "Mutations in collagen genes: causes of rare and some common diseases in humans". FASEB J. 5 (7): 2052–60. PMID 2010058.
  • Kuivaniemi H, Tromp G, Prockop DJ (1997). "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels". Hum. Mutat. 9 (4): 300–15. doi:10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9. PMID 9101290.
  • Rossert J, Terraz C, Dupont S (2001). "Regulation of type I collagen genes expression". Nephrol. Dial. Transplant. 15 Suppl 6: 66–8. PMID 11143996.

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