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| Collagen, type I, alpha 2 | ||||||||||||||
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| Identifiers | ||||||||||||||
| Symbols | COL1A2; OI4 | |||||||||||||
| External IDs | OMIM: 120160 MGI: 88468 HomoloGene: 69 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| More reference expression data | ||||||||||||||
| Orthologs | ||||||||||||||
| Species | Human | Mouse | ||||||||||||
| Entrez | 1278 | 12843 | ||||||||||||
| Ensembl | ENSG00000164692 | ENSMUSG00000029661 | ||||||||||||
| UniProt | P08123 | Q3TP88 | ||||||||||||
| RefSeq | NM_000089 (mRNA) | NM_007743 (mRNA) | ||||||||||||
| NP_000080 (protein) | NP_031769 (protein) | |||||||||||||
| Location | Chr 7: 93.86 - 93.9 Mb |
Chr 6: 4.46 - 4.49 Mb |
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| 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
References
- ^ 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. PMID 3857213.
- ^ 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.
- ^ "Entrez Gene: COL1A2 collagen, type I, alpha 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1278.
Further reading
- Byers PH, Wallis GA, Willing MC (1991). "Osteogenesis imperfecta: translation of mutation to phenotype.". J. Med. Genet. 28 (7): 433–42. doi:. 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:. 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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