COL1A2

Collagen, type I, alpha 2
Identifiers
Symbols	COL1A2; OI4
External IDs	OMIM: 120160 MGI: 88468 HomoloGene: 69 GeneCards: COL1A2 Gene
Gene Ontology Molecular function • extracellular matrix structural constituent • protein binding • protein binding, bridging • identical protein binding • SMAD binding • platelet-derived growth factor binding Cellular component • extracellular region • extracellular region • collagen • collagen type I • collagen type I • collagen type I • extracellular space • plasma membrane • extracellular matrix Biological process • skeletal system development • blood vessel development • transforming growth factor beta receptor signaling pathway • Rho protein signal transduction • axon guidance • blood coagulation • regulation of blood pressure • platelet activation • collagen fibril organization • odontogenesis • skin morphogenesis • leukocyte migration • protein heterotrimerization Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1278	12843
Ensembl	ENSG00000164692	ENSMUSG00000029661
UniProt	P08123	Q3TP88
RefSeq (mRNA)	NM_000089.3	NM_007743.2
RefSeq (protein)	NP_000080.2	NP_031769.2
Location (UCSC)	Chr 7: 94.02 – 94.06 Mb	Chr 6: 4.45 – 4.49 Mb
PubMed search	[1]	[2]

Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.^[1][2]

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.^[3]

See also

• Type-I collagen
• Collagen

References

1. ^ Retief E, Parker MI, Retief AE (May 1985). "Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1)". Hum Genet 69 (4): 304–8. doi:10.1007/BF00291646. PMID 3857213. 
2. ^ Wenstrup RJ, Cohn DH, Cohen T, Byers PH (Jun 1988). "Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype". J Biol Chem 263 (16): 7734–40. PMID 2897363. 
3. ^ "Entrez Gene: COL1A2 collagen, type I, alpha 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1278. 

External links

• GeneReviews/NCBI/NIH/UW entry on Osteogenesis Imperfecta

Further reading

• Byers PH, Wallis GA, Willing MC (1991). "Osteogenesis imperfecta: translation of mutation to phenotype". J. Med. Genet. 28 (7): 433–42. doi:10.1136/jmg.28.7.433. PMC 1016951. PMID 1895312. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1016951. 
• 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.