COL1A2

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Collagen, type I, alpha 2
Identifiers
Symbols COL1A2; OI4
External IDs OMIM: 120160 MGI: 88468 HomoloGene: 69
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 1278 12843
Ensembl ENSG00000164692 ENSMUSG00000029661
Uniprot P08123 Q3TP88
Refseq NM_000089 (mRNA)
NP_000080 (protein)		 NM_007743 (mRNA)
NP_031769 (protein)
Location Chr 7: 93.86 - 93.9 Mb Chr 6: 4.46 - 4.49 Mb
Pubmed search [1] [2]

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

References

  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. 
 This article on a gene on chromosome 7 is a stub. You can help Wikipedia by expanding it.


v • d • e
Protein: scleroproteins
Extracellular matrix
1-12
type I (COL1A1, COL1A2) · type II (COL2A1) · type III · type IV (COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6) · type V (COL5A1, COL5A2, COL5A3) · type VI (COL6A1, COL6A2, COL6A3) · type VII (COL7A1) · type VIII (COL8A1, COL8A2) · type IX (COL9A1, COL9A2, COL9A3) · type X (COL10A1) · type XI (COL11A1, COL11A2) · type XII (COL12A1)
13-29
Other
Keratin/Cytokeratin
type I (10, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21)

type II (1, 2A, 3, 4, 5, 6A, 7, 8, 9)

Hair (Type I, Type II) · Beta
Other

Wikipedia content modification information:

  • This page was last modified on 26 November 2008, at 20:24.

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