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Description for Protein RYR2

ryanodine receptor 2 (cardiac)
20 total interacting proteins; 13 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 3)
Summary:
This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SPRY: Domain in SPla and the RYanodine Receptor.
  • MIR: Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
  • CC: Coiled Coil
  • EF: EF-hand, calcium binding motif
  • TM: Transmembrane domain

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04962
    KEGG - Pathway(s):
    hsa04020; hsa04260; hsa05410; hsa05412; hsa05414
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Cardiac muscle ryanodine receptor calcium release channel; Cardiac muscle type ryanodine receptor
    Approved Symbol:
    RYR2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 8
    Human (de-) phosphorylation sites: 8; 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:

  • Arrhythmogenic right ventricular dysplasia, familial, 2(Pd);
  • Ventricular tachycardia, stress-induced polymorphic, autosomal dominant(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 6
  • Additional Identifiers:

    HPRD: 01619 Entrez Gene ID: 6262 OMIM ID: 180902 Swissprot Accession: Q92736