developmental stage:Expressed in myometrium during pregnancy. ,Disease:Defects in RYR2 are the cause of catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]; also known as stress-induced polymorphic ventricular tachycardia (VTSIP) . CPVT1 is an autosomal dominant form of arrhythmogenic disorder characterized by stress-induced , bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. ,Disease:Defects in RYR2 are the cause of familial arrhythmogenic right ventricular dysplasia 2 (ARVD2) [MIM:600996]; also known as arrhythmogenic right ventricular cardiomyopathy 2 (ARVC2) . ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle , electrical instability , and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings , replacement of ventricular myocardium with fatty and fibrous elements , preferentially involve the right ventricular free wall. ,Function: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. ,induction:By TGF-beta. ,miscellaneous:Ryanodine is an alkaloid that binds to the Ca-release channel in junctional SR and modulates its activity. ,miscellaneous:The calcium release channel activity resides in the C-terminal region while the remaining part of the protein constitutes the 'foot' structure spanning the junctional gap between the SR and the T-tubule. It is possible that the foot structure interacts with the cytoplasmic region of the dihydropyridine receptor. ,miscellaneous:The calcium release channel is modulated by calcium ions , magnesium ions , ATP and calmodulin. ,online information:Ryanodine receptor entry ,online information:RYR2 entry ,similarity:Belongs to the ryanodine receptor family. ,similarity:Contains 2 EF-hand domains. ,similarity:Contains 3 B30.2/SPRY domains. ,similarity:Contains 5 MIR domains. ,subunit:Homotetramer . ,tissue specificity:Heart muscle , brain (cerebellum and hippocampus) and placenta. ,
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