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Description for Protein COL2A1

collagen, type II, alpha 1
29 total interacting proteins; 11 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • COLL: Collagen triple helix repeat (20 copies)
  • COLFI: Fibrillar collagens C-terminal domain
  • VWC: von Willebrand factor (vWF) type C 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:
    Alpha 1 type II collagen isoform 2; Alpha 1 type II collagen isoform 1; Collagen, type II; Chondrocalcin; Collagen, type XI, alpha 3; COL11A3; Collagen II, alpha-1 polypeptide; Cartilage collagen
    Approved Symbol:
    COL2A1
    (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:

  • Achondrogenesis, type II(Pd);
  • Achondrogenesis-hypochondrogenesis, type II(Pd);
  • Avascular necrosis of the femoral head, primary(Pd);
  • Epiphyseal dysplasia, multiple, with myopia and conductive deafness(Pd);
  • Hypochondrogenesis(Pd);
  • Kniest dysplasia(Pd);
  • Osteoarthritis with mild chondrodysplasia(Pd);
  • Otospondylomegaepiphyseal dysplasia(Pd);
  • Platyspondylic skeletal dysplasia, Torrance type(Pd);
  • Rhegmatogenous retinal detachment, autosomal dominant(Pd);
  • Spondyloepimetaphyseal dysplasia, strudwick type(Pd);
  • Spondyloepiphyseal dysplasia congenita(Pd);
  • Spondyloepiphyseal dysplasia with precocious osteoarthritis(Pd);
  • Spondyloepiphyseal dysplasia, namaqualand type(Pd);
  • Spondylometaphyseal dysplasia, congenital type(Pd);
  • Spondyloperipheral dysplasia(Pd);
  • Stickler syndrome, type I(Pd);
  • Stickler syndrome, type I, nonsyndromic ocular(Pd);
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00361 Entrez Gene ID: 1280 OMIM ID: 120140 Swissprot Accession: P02458;