COL1A2

                                                                                             (Collagen, type I, alpha 2)

  • Alias                                 (According to NCBI)

 
  • HGNC:8128
  • OI4 
  • Collagen I, alpha-2 polypeptide
  • Collagen of skin, tendon and bone, alpha-2 chain
  • collagen, type I, alpha 2
  • Collagen alpha 2(I) chain precursor.

  • 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.
  • Location:7q22.1
  • Orientation: Plus strand
  • Size: 36,337 bases
  • 47 Exons
  • DNA Sequence: NT_007933

  • CGH ( 7q22.1) :  Losses (%) -3.8    Gain (%) 10.0   Amplifications  0.0
  • Mutations and SNPs (According to HGMD and SNP)
  • m-RNA                       (According to NCBI and CGAP)

 
  • Size: 1366 amino acids; 129456 Da
  • Protein domains:

                         
  • Pathways and interactions (According to BioCarta, DIP)
  • Pathways:
  • Interactions:
  • Clinical                            (According to OMIM, PubMed)