COL1A2

From Wikipedia, the free encyclopedia

Collagen, type I, alpha 2

Identifiers

External IDs

OMIM: 120160 MGI: 88468 HomoloGene: 69

Gene ontology
Molecular Function:	• extracellular matrix structural constituent • protein binding • structural constituent of bone
Cellular Component:	• collagen • collagen type I • cytoplasm
Biological Process:	• skeletal development • phosphate transport • transmembrane receptor protein tyrosine kinase signaling pathway • sensory perception of sound

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

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]

[edit] See also

[edit] References

^ Entrez Gene: COL1A2 collagen, type I, alpha 2.

[edit] 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.