ryanodine receptor 2; RYR-2; RyR2; hRYR-2; cardiac muscle-type ryanodine receptor; cardiac muscle ryanodine receptor-Ca+2 release channel (RYR2)

Function

• communication between transverse-tubules & sarcoplasmic reticulum
• contraction of cardiac muscle is triggered by release of Ca+2 from SR following depolarization of T-tubules (putative)
• coupled cytosolic Ca+2 influx from plasma membrane Ca+2 channel (L-type, R-type, dihydropyridine receptor) in cardiac muscle
• Ca+2 release channel is modulated by Ca+2, Mg+2, ATP & calmodulin

Structure

• homotetramer (putative)
• belongs to the ryanodine receptor family
• contains 3 B30.2/SPRY domains
• contains 2 EF-hand domains
• contains 5 MIR domains
• Ca+2 release channel activity resides in the C-terminal region while the remaining part of the protein constitutes the 'foot' structure spanning the junctional gap between the SR & the T-tubule
• it is possible that the foot structure interacts with the cytoplasmic region of the dihydropyridine receptor

Compartment

membrane

Alternative splicing

named isoforms=2

Expression

• heart muscle, brain (cerebellum & hippocampus) & placenta
• expressed in myometrium during pregnancy
• induced by TGF-beta

Pathology

• defects in RYR2 are the cause of:
  • familial arrhythmogenic right ventricular dysplasia 2
  • catecholaminergic polymorphic ventricular tachycardia type 1
  • familial polymorphic ventricular tachycardia

More general terms

• ryanodine receptor (RyR)
• phosphoprotein

Additional terms

• ryanodine

Database

• OMIM: https://mirror.omim.org/entry/180902
• OMIM: https://mirror.omim.org/entry/192605
• OMIM: https://mirror.omim.org/entry/600996
• OMIM: https://mirror.omim.org/entry/604772
• UniProt: http://www.uniprot.org/uniprot/Q92736.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6262