ryanodine receptor 2

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.
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).
Missense variants in the cardiac ryanodine receptor encoding the ryanodine receptor 2 (RYR2) gene are detected in approximately 50% of CPVT probands (17-19).
5% DSC2 Desmocollin 2 <2% JUP Junction plakoglobin N/A LQTS KCNQ1 Potassium voltage-gated 40%-55% channel subfamily Q member 1 KCNH2 Potassium voltage-gated 35%-45% channel subfamily H member 2 SCN5A Sodium voltage-gated 2%-8% channel alpha subunit 5 Brugada SCN5A Sodium voltage-gated channel alpha subunit 5 CPVT RYR2 Ryanodine receptor 2 50% (cardiac) CASQ2 Calsequestrin 2 (cardiac N/A muscle) TRDN Triadin N/A CALM1 Calmodulin 1 (phosphorylase N/A kinase, delta) KCNJ2 Potassium voltage-gated N/A channel subfamily J member 2 FH LDLR Low density lipoprotein 70%-80% receptor APOB Apolipoprotein B 2%-7% PCSK9 Proprotein convertase <1% subtilisin/ kexin type 9 ICC Gene References HCM MYBPC3 Alfares et al.
In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells," Cellular Physiology and Biochemistry, vol.