Collagen, type I, alpha 2

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COL1A2
Identifiers
Aliases COL1A2, OI4, collagen type I alpha 2, collagen type I alpha 2 chain
External IDs OMIM: 120160 MGI: 88468 HomoloGene: 69 GeneCards: COL1A2
Genetically Related Diseases
smallpox[1]
RNA expression pattern
PBB GE COL1A2 202404 s at fs.png

PBB GE COL1A2 202403 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000089

NM_007743

RefSeq (protein)

NP_000080

NP_031769.2
NP_031769

Location (UCSC) Chr 7: 94.39 – 94.43 Mb Chr 6: 4.5 – 4.54 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.[4][5]

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.[6]

See also[edit]

References[edit]

  1. ^ "Diseases that are genetically associated with COL1A2 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ "Entrez Gene: COL1A2 collagen, type I, alpha 2". 

External links[edit]

Further reading[edit]