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Description for Protein PHKG2

phosphorylase kinase, gamma 2 (testis)
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. (PubMed Links)
Domains and Motifs:
  • S_T_kinase: Serine/Threonine protein kinases, catalytic domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.11.19
    KEGG - Orthology:
    K00871
    KEGG - Pathway(s):
    hsa04020; hsa04910
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Phosphorylase kinase, testis/liver, gamma2; PHK gamma T; PSK-C3
    Approved Symbol:
    PHKG2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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:

  • Cirrhosis due to liver phosphorylase kinase deficiency(Pd);
  • Glycogenosis, hepatic, autosomal(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01405 Entrez Gene ID: 5261 OMIM ID: 172471 Swissprot Accession: P15735;