Recombinant Human Ryanodine receptor 2 (RYR2), Truncated

Uniprot Id

Q92736

Target Species

Human

Target Name

RYR2

Target Full Name

Ryanodine receptor 2

Target Function

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.

Target Involvement

Arrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2); Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1)

Target Subcellular Location

Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Sarcoplasmic reticulum.

Target Protein Families

Ryanodine receptor (TC 1.A.3.1) family, RYR2 subfamily

Target Tissue Specificity

Detected in heart muscle (at protein level). Heart muscle, brain (cerebellum and hippocampus) and placenta.

Target Synonyms

ARVC2; ARVD2; Cardiac muscle ryanodine receptor; Cardiac muscle ryanodine receptor-calcium release channel; hRYR-2; ryanodine receptor 2 (cardiac); Ryanodine receptor 2; RyR; RYR-2; RyR2; RYR2_HUMAN; Type 2 ryanodine receptor; VTSIP

Target Background

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.