| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Ryanodine receptor 2
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| http://www.biopax.org/relea... |
RYR2_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Cardiac muscle ryanodine receptor-calcium release channel,
Cardiac muscle-type ryanodine receptor,
RYR-2,
RyR2,
hRYR-2
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| http://www.biopax.org/relea... |
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 (By similarity). SUBUNIT: Homotetramer (Potential). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Probable). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92736-1; Sequence=Displayed; Name=2; IsoId=Q92736-2; Sequence=VSP_005953; TISSUE SPECIFICITY: Heart muscle, brain (cerebellum and hippocampus) and placenta. DEVELOPMENTAL STAGE: Expressed in myometrium during pregnancy. INDUCTION: By TGFB1. PTM: Activated through phosphorylation at Ser-2808 by CaMK2D. DISEASE: Defects in RYR2 are the cause of familial arrhythmogenic right ventricular dysplasia type 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. 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. MISCELLANEOUS: The calcium release channel is modulated by calcium ions, magnesium ions, ATP and calmodulin. 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: Ryanodine is an alkaloid that binds to the Ca- release channel in junctional SR and modulates its activity. SIMILARITY: Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR2 subfamily. SIMILARITY: Contains 3 B30.2/SPRY domains. SIMILARITY: Contains 1 EF-hand domain. SIMILARITY: Contains 5 MIR domains. SEQUENCE CAUTION: Sequence=CAH71369.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction; Sequence=CAH71393.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction; Sequence=CAH73918.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction; Sequence=CAI14440.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction; Sequence=CAI15350.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction; Sequence=CAI15936.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction; Sequence=CAI22065.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RYR2"; WEB RESOURCE: Name=Wikipedia; Note=Ryanodine receptor entry; URL="http://en.wikipedia.org/wiki/Ryanodine_receptor"; WEB RESOURCE: Name=Wikipedia; Note=RYR2 entry; URL="http://en.wikipedia.org/wiki/RYR2"; COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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