Aliases for RYR2 Gene
External Ids for RYR2 Gene
Previous HGNC Symbols for RYR2 Gene
Previous GeneCards Identifiers for RYR2 Gene
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, Jul 2008]
GeneCards Summary for RYR2 Gene
RYR2 (Ryanodine Receptor 2) is a Protein Coding gene. Diseases associated with RYR2 include Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy and Arrhythmogenic Right Ventricular Dysplasia, Familial, 2. Among its related pathways are Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein kinase binding. An important paralog of this gene is RYR3.
UniProtKB/Swiss-Prot Summary for RYR2 Gene
Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development.