RYR2: ryanodine receptor calcium release channel. Regulates communication between transverse-tubules and sarcoplasmic reticulum. Contraction of cardiac muscle is triggered by release of calcium ions from SR following depolarization of T-tubules. Phosphorylation by PKA dissociates FKBP12.6 from RYR2. Two splice isoforms have been described.
Protein type: Transporter, ion channel; Membrane protein, integral; Membrane protein, multi-pass; Channel, ligand-gated; Transporter
Chromosomal Location of Human Ortholog: 1q43
Cellular Component: sarcoplasmic reticulum membrane; protein complex; smooth endoplasmic reticulum; membrane; sarcoplasmic reticulum; plasma membrane; Z disc
Molecular Function: calmodulin binding; calcium-induced calcium release activity; identical protein binding; protein binding; enzyme binding; protein self-association; calcium-release channel activity; calcium channel activity; calcium ion binding; intracellular ligand-gated calcium channel activity; ryanodine-sensitive calcium-release channel activity
Biological Process: positive regulation of sequestering of calcium ion; cytosolic calcium ion homeostasis; regulation of heart rate; calcium-mediated signaling; positive regulation of heart rate; response to redox state; Wnt receptor signaling pathway through beta-catenin; release of sequestered calcium ion by sarcoplasmic reticulum into cytosol; response to caffeine; BMP signaling pathway; cellular calcium ion homeostasis; release of sequestered calcium ion into cytosol; calcium ion transport; response to hypoxia; detection of calcium ion; transmembrane transport; cardiac muscle contraction
Disease: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
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