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Description for Protein PLOD2

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
3 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/2)
(phosphoproteome: 1; platelet: 1; undefined: 1)
Summary:
The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • P4HC: Prolyl 4-hydroxylase alpha subunit homologues.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.14.11.4
    KEGG - Orthology:
    K13645
    KEGG - Pathway(s):
    hsa00310
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 isoform a precursor; Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2; Lysine hydroxylase 2; LH2; EC 1.14.11.4; Telopeptide lysyl hydroxylase; TLH; Procollagen lysine, 2 oxoglutarate 5 dioxygenase 2 isoform b
    Approved Symbol:
    PLOD2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; Platelet phosphorylation sites: 2
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Vitamin C(db)

    Associated Genetic Diseases:

  • Bruck syndrome 2(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03519 Entrez Gene ID: 5352 OMIM ID: 601865 Swissprot Accession: Q59ED2; O00469;