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 Ion channel transport and Oxytocin signaling pathway. 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.