Ryanodine receptor 2 è un gene codificato dal simbolo RYR2. È noto anche come: RYR-2; Cardiac muscle ryanodine receptor; Cardiac muscle ryanodine receptor-calcium release channel; Type 2 ryanodine receptor; RYR2. Ryanodine receptor 2 ha una massa di 564.57kDa, una lunghezza di amminoacidi di 4967, ed è implicato nella malattia: Arrhythmogenic right ventricular dysplasia, familial, 2; Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy.
Offriamo 5 anticorpi contro Ryanodine receptor 2, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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.
Sommario di Entrez
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.
Specificità del tessuto
Detected in heart muscle (at protein level). Heart muscle, brain (cerebellum and hippocampus) and placenta.
Coinvolgimento nella malattia
Arrhythmogenic right ventricular dysplasia, familial, 2: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT1 inheritance is autosomal dominant.
Somiglianze di sequenza
Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR2 subfamily.
Modifica post-translazionale
Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2808 and Ser-2814 increases the open probability of the calcium channel. Phosphorylation is increased in failing heart, leading to calcium leaks and increased cytoplasmic Ca(2+) levels.
Posizione cellulare
Sarcoplasmic reticulum membrane. Membrane. Sarcoplasmic reticulum.
The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic.
