ryanodine receptor 2

A membrane calcium-channel receptor encoded by RYR2 on chromosome 1q43, which is found in cardiac muscle sarcoplasmic reticulum and required for excitation-contraction coupling in cardiac muscle.

Function
Responsible for communication between transverse-tubules (T-tubules) and sarcoplasmic reticulum (SR), resulting in cardiac muscle contraction triggered by Ca2+ release from SR following T-tubule depolarization.

Abnormal in
Stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia.

Mentioned in

References in periodicals archive

Background: Calcium regulatory proteins-L-type Ca[sup]2+ channels (LTCCs), ryanodine receptor 2 (RyR2), and Na[sup]+/Ca[sup]2+ exchanger isoform 1 (NCX1) have been recognized as important protective mechanisms during myocardial ischemia-reperfusion injury (I/RI).

Calcium regulatory proteins are mainly composed of L-type Ca[sup]2+ channels (LTCCs), ryanodine receptor 2 (RyR2), and Na[sup]+/Ca[sup]2+ exchanger (NCX).

Downregulation of Na[sup]+/Ca[sup]2+ Exchanger Isoform 1 Protects Isolated Hearts by Sevoflurane Postconditioning but Not by Delayed Remote Ischemic Preconditioning in Rats

Missense variants in the cardiac ryanodine receptor encoding the ryanodine receptor 2 (RYR2) gene are detected in approximately 50% of CPVT probands (17-19).

Issues and Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions

Shao et al., "In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells," Cellular Physiology and Biochemistry, vol.

Gene Protein Mutation Donor cell types CASQ2 Calsequestrin 2 p.D307H Fibroblasts RyR2 Ryanodine receptor 2 p.P2328S Fibroblasts RyR2 Ryanodine receptor 2 p.F2483I Fibroblasts RyR2 Ryanodine receptor 2 p.S406L Fibroblasts Gene Reprogramming method References CASQ2 Lv (a), OSKM (b) [39] RyR2 RV (c), OSKM [47] RyR2 RV, OSKM [45] RyR2 RV, OSKM [46] LV (a): lentiviruses, RV (c): retroviruses, and OCT4 (O), SOX2 (S), KLF4 (K), and c-MYC (M) (b).

Human induced pluripotent stem cell-derived cardiomyocytes afford new opportunities in inherited cardiovascular disease modeling

Protein-SNO Pathology Reference Dynamin-related Alzheimer disease Cho et al., 2009 protein 1 [86] Protein disulfide Alzheimer disease Uehara et al., 2006 isomerase [98] Parkinson disease X-linked inhibitor Alzheimer disease Nakamura et al., of apoptosis 2010 [30] Parkinson disease Parkin Parkinson disease Chung et al., 2004 [53] Peroxiredoxin-2 Parkinson disease Fang et al., 2007 [97] Ryanodine receptor 2 Heart failure Gonzalez et al., 2007 [99] [O.sup.6]- Cancer Wei et al., 2010 alkylguanine-DNA [62] alkyl transferase Ryanodine receptor 1 Duchenne/ Bellinger et al., limb-girdle muscular 2009 [76] Andersson dystrophy et al., 2012 [100] TABLE 2: Role and targets of NO in neuromuscular dysfunctions.

S-nitrosation and ubiquitin-proteasome system interplay in neuromuscular disorders