COL1A2

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Collagen, type I, alpha 2
Identifiers
Symbols COL1A2 ; OI4
External IDs OMIM120160 MGI88468 HomoloGene69 ChEMBL: 2685 GeneCards: COL1A2 Gene
RNA expression pattern
PBB GE COL1A2 202403 s at tn.png
PBB GE COL1A2 202404 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1278 12843
Ensembl ENSG00000164692 ENSMUSG00000029661
UniProt P08123 Q01149
RefSeq (mRNA) NM_000089 NM_007743
RefSeq (protein) NP_000080 NP_031769
Location (UCSC) Chr 7:
94.02 – 94.06 Mb
Chr 6:
4.5 – 4.54 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]

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References[edit]

  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". 

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