RYR2
Gene Information
- Official Symbol: RYR2
- Official Name: ryanodine receptor 2
- Aliases and Previous Symbols: N/A
- Entrez ID: 6262
- UniProt: Q92736
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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. [provided by RefSeq, Jul 2008].
- UniProt Summary: 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, ECO:0000269|PubMed:27733687}.
Pfam Domains GO Terms
Pfam Domains
| RYDR ITPR |
| SPRY |
| Ins145 P3 rec |
| RR TM4-6 |
| MIR |
| RIH assoc |
| RyR |
| Ion trans |
GO Terms
| suramin binding |
| regulation of SA node cell action potential |
| type B pancreatic cell apoptotic process |
| left ventricular cardiac muscle tissue morphogenesis |
| regulation of AV node cell action potential |
| ryanodine-sensitive calcium-release channel activity |
| calcium-induced calcium release activity |
| positive regulation of the force of heart contraction |
| Purkinje myocyte to ventricular cardiac muscle cell signaling |
| positive regulation of ATPase-coupled calcium transmembrane transporter activity |
| regulation of atrial cardiac muscle cell action potential |
| Purkinje myocyte to ventricular cardiac muscle cell communication |
| release of sequestered calcium ion into cytosol by sarcoplasmic reticulum |
| release of sequestered calcium ion into cytosol by endoplasmic reticulum |
| junctional sarcoplasmic reticulum membrane |
| regulation of ATPase-coupled calcium transmembrane transporter activity |
| cellular response to caffeine |
| detection of calcium ion |
| calcium-release channel activity |
| protein kinase A catalytic subunit binding |
| cellular response to purine-containing compound |
| cellular response to epinephrine stimulus |
| cardiac left ventricle morphogenesis |
| response to redox state |
| sarcoplasmic reticulum calcium ion transport |
| regulation of ventricular cardiac muscle cell action potential |
| response to epinephrine |
| positive regulation of sequestering of calcium ion |
| cell communication by electrical coupling involved in cardiac conduction |
| response to caffeine |
| response to diuretic |
| response to muscle stretch |
| cell communication by electrical coupling |
| regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion |
| protein kinase A regulatory subunit binding |
| ventricular cardiac muscle cell action potential |
| calcium-mediated signaling using intracellular calcium source |
| response to muscle activity |
| calcium channel complex |
| positive regulation of heart rate |
| regulation of cardiac muscle contraction by calcium ion signaling |
| regulation of the force of heart contraction |
| cell-cell signaling involved in cardiac conduction |
| smooth endoplasmic reticulum |
| epithelial cell apoptotic process |
| regulation of cardiac muscle cell action potential |
| regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum |
| cardiac muscle hypertrophy |
| striated muscle hypertrophy |
| sarcoplasmic reticulum membrane |
| muscle hypertrophy |
| cellular response to alkaloid |
| regulation of cardiac muscle cell contraction |
| positive regulation of heart contraction |
| positive regulation of calcium ion transmembrane transporter activity |
| cardiac muscle cell action potential involved in contraction |
| regulation of actin filament-based movement |
| cardiac muscle cell contraction |
| cell communication involved in cardiac conduction |
| sarcoplasmic reticulum |
| ventricular cardiac muscle tissue morphogenesis |
| cardiac muscle cell action potential |
| regulation of action potential |
| calcium channel activity |
| release of sequestered calcium ion into cytosol |
| ventricular cardiac muscle tissue development |
| protein self-association |
| negative regulation of sequestering of calcium ion |
| response to activity |
| embryonic heart tube morphogenesis |
| calcium ion transmembrane import into cytosol |
| cardiac muscle tissue morphogenesis |
| regulation of cardiac conduction |
| positive regulation of blood circulation |
| positive regulation of calcium ion transmembrane transport |
| cardiac ventricle morphogenesis |
| calcium ion transport into cytosol |
| regulation of cardiac muscle contraction |
| embryonic heart tube development |
| regulation of release of sequestered calcium ion into cytosol |
| cardiac muscle contraction |
| muscle tissue morphogenesis |
| muscle organ morphogenesis |
| heart contraction |
| regulation of calcium ion transmembrane transporter activity |
| actin-mediated cell contraction |
| cytosolic calcium ion transport |
| canonical Wnt signaling pathway |
| BMP signaling pathway |
| regulation of striated muscle contraction |
| cardiac conduction |
| action potential |
| regulation of heart rate |
| regulation of calcium ion transport into cytosol |
| sarcolemma |
| heart process |
| cellular response to monoamine stimulus |
| cellular response to catecholamine stimulus |
| positive regulation of ion transmembrane transporter activity |
| response to BMP |
| cellular response to BMP stimulus |
| response to monoamine |
| response to catecholamine |
| striated muscle contraction |
| actin filament-based movement |
| positive regulation of transporter activity |
| response to alkaloid |
| establishment of protein localization to endoplasmic reticulum |
| positive regulation of calcium ion transport |
| regulation of sequestering of calcium ion |
| ion channel binding |
| cardiac chamber morphogenesis |
| cardiac ventricle development |
| Z disc |
| multicellular organismal signaling |
| protein localization to endoplasmic reticulum |
| positive regulation of cation transmembrane transport |
| cytoplasmic vesicle membrane |
| calcium-mediated signaling |
| regulation of calcium ion transmembrane transport |
| response to calcium ion |
| response to purine-containing compound |
| positive regulation of ion transmembrane transport |
| regulation of muscle contraction |
| cardiac muscle tissue development |
| cardiac chamber development |
| cellular response to xenobiotic stimulus |
| calcium ion transmembrane transport |
| transmembrane receptor protein serine/threonine kinase signaling pathway |
| positive regulation of transmembrane transport |
| calmodulin binding |
| response to mechanical stimulus |
| regulation of muscle system process |
| regulation of heart contraction |
| regulation of calcium ion transport |
| calcium ion transport |
| muscle contraction |
| heart morphogenesis |
| regulation of ion transmembrane transporter activity |
| regulation of transmembrane transporter activity |
| positive regulation of ion transport |
| regulation of transporter activity |
| positive regulation of cytosolic calcium ion concentration |
| striated muscle tissue development |
| regulation of blood circulation |
| embryonic organ morphogenesis |
| divalent metal ion transport |
| muscle organ development |
| muscle tissue development |
| muscle system process |
| response to xenobiotic stimulus |
| divalent inorganic cation transport |
| epithelial tube morphogenesis |
| regulation of cytosolic calcium ion concentration |
| regulation of cation transmembrane transport |
| second-messenger-mediated signaling |
| response to hypoxia |
| enzyme binding |
| Wnt signaling pathway |
| cell-cell signaling by wnt |
| response to decreased oxygen levels |
| response to metal ion |
| response to oxygen levels |
| regulation of metal ion transport |
| regulation of actin filament-based process |
| blood circulation |
| circulatory system process |
| cellular response to drug |
| cell surface receptor signaling pathway involved in cell-cell signaling |
| regulation of membrane potential |
| morphogenesis of an epithelium |
| establishment of protein localization to organelle |
| embryonic organ development |
| cellular calcium ion homeostasis |
| calcium ion homeostasis |
| cellular divalent inorganic cation homeostasis |
| muscle structure development |
| regulation of ion transmembrane transport |
| divalent inorganic cation homeostasis |
| cellular response to growth factor stimulus |
| detection of chemical stimulus |
| heart development |
| response to growth factor |
| response to inorganic substance |
| cellular response to organic cyclic compound |
| cellular metal ion homeostasis |
| inorganic cation transmembrane transport |
| regulation of transmembrane transport |
| tissue morphogenesis |
| embryonic morphogenesis |
| actin filament-based process |
| regulation of system process |
| protein-containing complex |
| cellular response to organonitrogen compound |
| cation transmembrane transport |
| metal ion homeostasis |
| cellular cation homeostasis |
| metal ion transport |
| cellular ion homeostasis |
| inorganic ion transmembrane transport |
| tube morphogenesis |
| cellular response to nitrogen compound |
| detection of stimulus |
| regulation of ion transport |
| cation homeostasis |
| enzyme linked receptor protein signaling pathway |
| inorganic ion homeostasis |
| calcium ion binding |
| protein localization to organelle |
| cellular chemical homeostasis |
| ion homeostasis |
| cation transport |
| tube development |
| circulatory system development |
| cellular homeostasis |
| regulation of cellular localization |
| response to organic cyclic compound |
| apoptotic process |
| ion transmembrane transport |
| animal organ morphogenesis |
| embryo development |
| positive regulation of transport |
| regulation of cellular component movement |
| response to organonitrogen compound |
| response to drug |
| programmed cell death |
| cellular response to oxygen-containing compound |
| identical protein binding |
| response to nitrogen compound |
| cell death |
| chemical homeostasis |
| epithelium development |
| cell-cell signaling |
| response to abiotic stimulus |
| cellular response to endogenous stimulus |
| transmembrane transport |
| ion transport |
| response to endogenous stimulus |
| movement of cell or subcellular component |
| response to oxygen-containing compound |
| cellular protein localization |
| cellular macromolecule localization |
| establishment of protein localization |
| homeostatic process |
| intracellular signal transduction |
| positive regulation of multicellular organismal process |
| tissue development |
| positive regulation of molecular function |
| establishment of localization in cell |
| regulation of transport |
| system process |
| membrane |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
| Screen | Score |
|---|---|
| Golgicide-A 4μM R03 exp122 | -2.08 |
| NN-Dimethylsphingosine 2.5μM R08 exp508 | 1.98 |
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/739
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 0/28 |
| bone | 0/26 |
| breast | 0/33 |
| central nervous system | 0/56 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 0/16 |
| kidney | 0/21 |
| liver | 0/20 |
| lung | 0/75 |
| lymphocyte | 0/16 |
| ovary | 0/26 |
| pancreas | 0/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 0/1 |
| skin | 0/24 |
| soft tissue | 0/9 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 8996
- Expression level (log2 read counts): -1.95
Expression Distribution
RYR2 Expression in NALM6 Cells: -1.95
