RYR2 [The Human Chemical-Genetic Interaction Map Project]

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======= RYR2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: RYR2
  * **<color #00a2e8>Official Name</color>**: ryanodine receptor 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6262|6262]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q92736|Q92736]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RYR2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RYR2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/180902|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|RYDR ITPR|
|SPRY|
|Ins145 P3 rec|
|RR TM4-6|
|MIR|
|RIH assoc|
|RyR|
|Ion trans|
</modal>

<modal id='GO_terms' size='lg' title='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|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp122|Golgicide-A 4μM R03 exp122]]|-2.08|
|[[:results:exp508|NN-Dimethylsphingosine 2.5μM R08 exp508]]|1.98|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 8996
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -1.95 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='RYR2 Expression in NALM6 Cells: -1.95'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>