| 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)
|