Gene Symbol | RYR2 |
---|---|
Entrez Gene | 6262 |
Alt Symbol | ARVC2, ARVD2, RYR-2, RyR, VTSIP |
Species | Human |
Gene Type | protein-coding |
Description | ryanodine receptor 2 (cardiac) |
Other Description | cardiac muscle ryanodine receptor-calcium release channel|cardiac-type ryanodine receptor|islet-type ryanodine receptor|kidney-type ryanodine receptor|ryanodine receptor 2|type 2 ryanodine receptor |
Swissprots | Q546N8 Q15411 Q92736 Q5T3P2 |
Accessions | CAC18855 CCQ43048 EAW70069 EAW70070 EAW70071 Q92736 AB204532 BAJ10285 AB204533 BAJ10286 AB204534 BAJ10287 AB204535 BAJ10288 AB204536 BAJ10289 AI218003 AJ002511 CAA05502 AK294792 BAG57915 AK297823 BAG60160 X91869 CAA62975 X98330 CAA66975 Y08218 CAA69395 XM_006711802 XP_006711865 XM_006711803 XP_006711866 XM_006711804 XP_006711867 XM_006711805 XP_006711868 XM_006711806 XP_006711869 XM_006711807 XP_006711870 XM_006711808 XP_006711871 XM_006711809 XP_006711872 XM_006711810 XP_006711873 XR_949152 NM_001035 NP_001026 |
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. {ECO:0000269|PubMed:10830164, ECO:0000269|PubMed:20056922}. |
Subcellular Location | Sarcoplasmic reticulum membrane {ECO:0000269|PubMed:10830164}; Multi-pass membrane protein {ECO:0000269|PubMed:10830164}. Membrane {ECO:0000305|PubMed:10830164}; Multi-pass membrane protein {ECO:0000305|PubMed:10830164}. Note=The number of predicted transmembrane domains varies between orthologs, but both N- terminus and C-terminus seem to be cytoplasmic. {ECO:0000250}. |
Tissue Specificity | Detected in heart muscle (at protein level). Heart muscle, brain (cerebellum and hippocampus) and placenta. {ECO:0000269|PubMed:10830164, ECO:0000269|PubMed:9607712}. |
Top Pathways | Dilated cardiomyopathy, Pancreatic secretion, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Circadian entrainment, Hypertrophic cardiomyopathy (HCM) |
RyR-2 CRISPR/Cas9 Knockout (KO) Plasmid (h) - sc-402986 from Santa Cruz Biotechnology
|
||||||||
RyR-2 HDR Plasmid (h) - sc-402986-HDR from Santa Cruz Biotechnology
|
||||||||
RyR-2 HDR Plasmid (h) - sc-402986-NIC from Santa Cruz Biotechnology
|
||||||||
RyR-2 Double Nickase Plasmid (h2) - sc-402986-NIC-2 from Santa Cruz Biotechnology
|
||||||||
RyR CRISPR Activation Plasmid (h) - sc-402986-ACT from Santa Cruz Biotechnology
|
||||||||
RyR-2 CRISPR Activation Plasmid (h2) - sc-402986-ACT-2 from Santa Cruz Biotechnology
|
||||||||
RyR-2 Lentiviral Activation Particles (h) - sc-402986-LAC from Santa Cruz Biotechnology
|
||||||||
RyR-2 Lentiviral Activation Particles (h2) - sc-402986-LAC-2 from Santa Cruz Biotechnology
|
||||||||
RyR-2 siRNA (h) - sc-72012 from Santa Cruz Biotechnology
|
||||||||
RyR-2 shRNA Plasmid (h) - sc-72012-SH from Santa Cruz Biotechnology
|
||||||||
RyR-2 shRNA (h) Lentiviral Particles - sc-72012-V from Santa Cruz Biotechnology
|
||||||||
MISSION® esiRNA - EHU063121 from Sigma-Aldrich
|
||||||||
CompoZr® Knockout ZFN Kit - CKOZFN1877 from Sigma-Aldrich
|
||||||||
CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND1877 from Sigma-Aldrich
|
||||||||
RYR2 siRNA (Human) - CRH4217 from Cohesion Biosciences
|
||||||||
RYR2 - MBS8238461 from MyBioSource
|
||||||||
shRNA set against Human RYR2 (NM_001035.2) - SHH401044 from Creative biogene
|
||||||||
RyR-2 CRISPR/Cas9 KO Plasmid (h2) - sc-402986-KO-2 from Santa Cruz Biotechnology
|
||||||||
RyR-2 HDR Plasmid (h2) - sc-402986-HDR-2 from Santa Cruz Biotechnology
|
||||||||
RYR2 shRNA Plasmid (Human) - CHH4217 from Cohesion Biosciences
|
||||||||
RYR2 miRNA 3'UTR clone - MiUTR1H-09100 from Creative biogene
|