COL1A2

Collagen, type I, alpha 2
Identifiers
Symbols	COL1A2 ; OI4
External IDs	Template:OMIM5 Template:MGI HomoloGene: 69
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
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

Overview

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.

See also

• Type-I collagen
• Collagen

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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• Rossert J, Terraz C, Dupont S (2001). "Regulation of type I collagen genes expression". Nephrol. Dial. Transplant. 15 Suppl 6: 66–8. PMID 11143996.CS1 maint: Multiple names: authors list (link)

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