| 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) |
Recombinant Human RYR2 - RYR2-358H from Creative Biomart
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Recombinant Ryanodine Receptor 2, Cardiac (RYR2) - RPD024Hu01 from Uscn Life Science Inc.
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RyR2 (N2802) Peptide - BS1783P from Bioworld Technology
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p-RyR2 (S2808) Peptide - BS4358P from Bioworld Technology
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Recombinant Ryanodine Receptor 2, Cardiac (RYR2) - RPD024Hu01 from Cloud-clone
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RyR (1-300) - sc-4521 WB from Santa Cruz Biotechnology
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Ryanodine Receptor 2 (pS2808) Blocking Peptide - CBP4224 from Cohesion Biosciences
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Ryanodine Receptor 2 (pS2808) Blocking Peptide - abx161435 from Abbexa
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Ryanodine Receptor 2 Blocking Peptide - abx161725 from Abbexa
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Ryanodine Receptor 2 Recombinant Protein Antigen - NBP1-90091PEP from Novus Biologicals
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RYR2 Peptide, Human - M34GP13716H from Creative Peptides
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Ryanodine Receptor 2 Blocking Peptide - CBP4514 from Cohesion Biosciences
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RYR2 (2460 - 2495) - AS-64769 from AnaSpec, Inc.
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RYR2 peptide - orb14288 from Biorbyt
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Ryanodine Receptor 2 Blocking Peptide - orb392859 from Biorbyt
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Ryanodine Receptor 2 (phospho-S2808) peptide - orb304815 from Biorbyt
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