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Description for Protein COL1A2

collagen, type I, alpha 2
19 total interacting proteins; 15 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(platelet: 1; secretome: 1)
Summary:
This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, 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 the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • COLL: Collagen triple helix repeat (20 copies)
  • COLFI: Fibrillar collagens C-terminal domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06236
    KEGG - Pathway(s):
    hsa04510; hsa04512
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Collagen of skin, tendon, and bone, alpha 2 chain; Collagen I, alpha-2 polypeptide
    Approved Symbol:
    COL1A2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Collagenase(db)

    Associated Genetic Diseases:

  • Dentinogenesis imperfecta, severe, with very mild osteogenesis imperfecta(Pd);
  • Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form(Pd);
  • Ehlers-Danlos syndrome, type VII-B(Pd);
  • Ehlers-Danlos/osteogenesis imperfecta crossover syndrome(Pd);
  • Marfan syndrome, atypical(Pd);
  • Osteogenesis imperfecta, atypical, with joint hypermobility(Pd);
  • Osteogenesis imperfecta, type II(Pd);
  • Osteogenesis imperfecta, type III(Pd);
  • Osteogenesis imperfecta, type III, autosomal recessive(Pd);
  • Osteogenesis imperfecta, type IV(Pd);
  • Osteogenesis imperfecta, type IV-B(Pd);
  • Osteogenesis imperfecta/Ehlers-Danlos crossover syndrome(Pd);
  • Osteoporosis, postmenopausal(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00363 Entrez Gene ID: 1278 OMIM ID: 120160 Swissprot Accession: P08123;