Full name: ryanodine receptor 2, cardiac

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: 9330127I20Rik; RYR-2

Summary: Enables several functions, including calmodulin binding activity; identical protein binding activity; and ryanodine-sensitive calcium-release channel activity. Involved in several processes, including cellular response to organonitrogen compound; regulation of heart contraction; and release of sequestered calcium ion into cytosol by sarcoplasmic reticulum. Acts upstream of or within several processes, including calcium ion transport; left ventricular cardiac muscle tissue morphogenesis; and response to caffeine. Located in Z disc; sarcoplasmic reticulum membrane; and smooth endoplasmic reticulum. Part of calcium channel complex. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. Used to study arrhythmogenic right ventricular dysplasia 2; catecholaminergic polymorphic ventricular tachycardia 1; and heart disease. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 2; and catecholaminergic polymorphic ventricular tachycardia 1. Orthologous to human RYR2 (ryanodine receptor 2). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Biased expression in heart adult (RPKM 43.4), cortex adult (RPKM 7.6) and 3 other tissues

Gene size: 553847bp

Exon count: 108