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Description for Protein COL5A2

collagen, type V, alpha 2
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(secretome: 1)
Summary:
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [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:
    AB collagen; Collagen, fetal membrane, A polypeptide; Alpha 2 type V collagen preproprotein; Collagen V, alpha-2 polypeptide
    Approved Symbol:
    COL5A2
    (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):

    None Available

    Associated Genetic Diseases:

  • Ehlers-Danlos syndrome, type I(Pd);
  • Ehlers-Danlos syndrome, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00366 Entrez Gene ID: 1290 OMIM ID: 120190 Swissprot Accession: P05997;