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RYR2 ryanodine receptor 2 (cardiac) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001035 Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006711802 PREDICTED: Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006711803 PREDICTED: Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006711804 PREDICTED: Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006711805 PREDICTED: Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006711806 PREDICTED: Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006711807 PREDICTED: Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006711808 PREDICTED: Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), transcript variant X7, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006711809 PREDICTED: Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), transcript variant X8, mRNA. GenEZ ORF Cloning On-demand $4749.00 40
XM_006711810 PREDICTED: Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), transcript variant X9, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol RYR2
Entrez Gene ID 6262
Full Name ryanodine receptor 2 (cardiac)
Synonyms ARVC2, ARVD2, RYR-2, RyR, VTSIP
General protein information
Preferred Names
ryanodine receptor 2
Names
ryanodine receptor 2
type 2 ryanodine receptor
islet-type ryanodine receptor
kidney-type ryanodine receptor
cardiac-type ryanodine receptor
cardiac muscle ryanodine receptor-calcium release channel
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q43

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].
Disorder

MIM: 180902

Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772

mRNA Protein Product Sequence Price Select
NM_001035, 112799846 NP_001026, 112799847 ryanodine receptor 2 ORF Sequence $-1.00
XM_006711802, 578802296 XP_006711865, 578802297 ryanodine receptor 2 isoform X1 ORF Sequence $-1.00
XM_006711803, 578802298 XP_006711866, 578802299 ryanodine receptor 2 isoform X2 ORF Sequence $-1.00
XM_006711804, 578802300 XP_006711867, 578802301 ryanodine receptor 2 isoform X3 ORF Sequence $-1.00
XM_006711805, 578802302 XP_006711868, 578802303 ryanodine receptor 2 isoform X4 ORF Sequence $-1.00
XM_006711806, 578802304 XP_006711869, 578802305 ryanodine receptor 2 isoform X5 ORF Sequence $-1.00
XM_006711807, 578802306 XP_006711870, 578802307 ryanodine receptor 2 isoform X6 ORF Sequence $-1.00
XM_006711808, 578802308 XP_006711871, 578802309 ryanodine receptor 2 isoform X7 ORF Sequence $-1.00
XM_006711809, 578802310 XP_006711872, 578802311 ryanodine receptor 2 isoform X8 ORF Sequence $4500.00
XM_006711810, 578802312 XP_006711873, 578802313 ryanodine receptor 2 isoform X9 ORF Sequence $-1.00
KEGG
hsa04020Calcium signaling pathway
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa04260Cardiac muscle contraction
hsa05414Dilated cardiomyopathy
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa04972Pancreatic secretion
hsa04713Circadian entrainment
hsa04261Adrenergic signaling in cardiomyocytes
hsa04911Insulin secretion
hsa04921Oxytocin signaling pathway
WikiPathways
WP289Myometrial Relaxation and Contraction Pathways
WP706SIDS Susceptibility Pathways
WP536Calcium Regulation in the Cardiac Cell
WP2118Arrhythmogenic right ventricular cardiomyopathy
Reactome
REACT_15518Transmembrane transport of small molecules
REACT_25300Ion channel transport
REACT_160189Stimuli-sensing channels
Homo sapiens (human)RYR2NP_001026.2
Pan troglodytes (chimpanzee)RYR2XP_514296.4
Macaca mulatta (Rhesus monkey)RYR2XP_002808310.1
Canis lupus familiaris (dog)RYR2XP_005618836.1
Bos taurus (cattle)LOC537376XP_005226298.1
Mus musculus (house mouse)Ryr2NP_076357.2
Rattus norvegicus (Norway rat)Ryr2NP_114467.1
Gallus gallus (chicken)RYR2XP_419553.4
Danio rerio (zebrafish)ryr1bNP_001096041.1
Danio rerio (zebrafish)ryr1aXP_001923294.4
Drosophila melanogaster (fruit fly)Rya-r44FNP_001246207.1
Caenorhabditis elegansunc-68NP_001256074.1
Xenopus (Silurana) tropicalis (western clawed frog)ryr1XP_004917163.1
Process
IDNameEvidence
GO:0001666response to hypoxiaISS
GO:0002027regulation of heart rateIMP
GO:0003143embryonic heart tube morphogenesisISS
GO:0003220left ventricular cardiac muscle tissue morphogenesisISS
GO:0003300cardiac muscle hypertrophyISS
GO:0005513detection of calcium ionIDA
GO:0006816calcium ion transportIDA
GO:0006874cellular calcium ion homeostasisISS
GO:0010460positive regulation of heart rateISS
GO:0010881regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionIC
GO:0010881regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionISS
GO:0014808release of sequestered calcium ion into cytosol by sarcoplasmic reticulumIMP
GO:0014808release of sequestered calcium ion into cytosol by sarcoplasmic reticulumISS
GO:0019722calcium-mediated signalingISS
GO:0030509BMP signaling pathwayIEA
GO:0031000response to caffeineIDA
GO:0034220ion transmembrane transportTAS
GO:0035584calcium-mediated signaling using intracellular calcium sourceIDA
GO:0051209release of sequestered calcium ion into cytosolIDA
GO:0051209release of sequestered calcium ion into cytosolISS
GO:0051284positive regulation of sequestering of calcium ionIDA
GO:0051480cytosolic calcium ion homeostasisISS
GO:0051775response to redox stateIDA
GO:0055085transmembrane transportTAS
GO:0055117regulation of cardiac muscle contractionIMP
GO:0060048cardiac muscle contractionIMP
GO:0060070canonical Wnt signaling pathwayIEA
GO:0060402calcium ion transport into cytosolIDA
GO:0070296sarcoplasmic reticulum calcium ion transportTAS
GO:0070588calcium ion transmembrane transportIEA
GO:0071313cellular response to caffeineIDA
GO:0071313cellular response to caffeineISS
GO:0071872cellular response to epinephrine stimulusTAS
GO:0072599establishment of protein localization to endoplasmic reticulumIDA
GO:0086005ventricular cardiac muscle cell action potentialISS
GO:0086029Purkinje myocyte to ventricular cardiac muscle cell signalingISS
GO:0086064cell communication by electrical coupling involved in cardiac conductionIC
GO:0086094positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contractionISS
GO:0097050type B pancreatic cell apoptotic processIMP
GO:1901896positive regulation of calcium-transporting ATPase activityIDA
Component
IDNameEvidence
GO:0005886plasma membraneISS
GO:0014701junctional sarcoplasmic reticulum membraneTAS
GO:0016020membraneIDA
GO:0016529sarcoplasmic reticulumIDA
GO:0030018Z discISS
GO:0033017sarcoplasmic reticulum membraneISS
GO:0033017sarcoplasmic reticulum membraneTAS
GO:0034704calcium channel complexIDA
GO:0043234protein complexIDA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0005218intracellular ligand-gated calcium channel activityISS
GO:0005219ryanodine-sensitive calcium-release channel activityIDA
GO:0005262calcium channel activityISS
GO:0005509calcium ion bindingIEA
GO:0005515protein bindingIPI
GO:0005516calmodulin bindingIMP
GO:0005516calmodulin bindingIPI
GO:0005516calmodulin bindingISS
GO:0015278calcium-release channel activityIDA
GO:0019899enzyme bindingIPI
GO:0034236protein kinase A catalytic subunit bindingIDA
GO:0034237protein kinase A regulatory subunit bindingIDA
GO:0042802identical protein bindingIPI
GO:0043621protein self-associationIEA
GO:0043924suramin bindingIMP
GO:0044325ion channel bindingISS
GO:0048763calcium-induced calcium release activityIDA
GeneCards RYR2
UniProt Q92736
Vega OTTHUMG00000039543
MIM 180902
Ensembl ENSG00000198626
HGNC 10484
HPRD 01619

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the RYR2 gene?

The RYR2 gene provides instructions for making a protein called ryanodine receptor 2. This protein is part of a family of ryanodine receptors, which form channels that transport positively charged calcium atoms (calcium ions) within cells.

Channels made with the ryanodine receptor 2 protein are found in heart (cardiac) muscle cells called myocytes. These channels are embedded in the outer membrane of a cell structure called the sarcoplasmic reticulum, which acts as a storage center for calcium ions. The RYR2 channel controls the flow of calcium ions out of the sarcoplasmic reticulum.

For the heart to beat normally, the cardiac muscle must tense (contract) and relax in a coordinated way. This cycle of muscle contraction and relaxation results from the precise control of calcium ions within myocytes. In response to certain signals, the RYR2 channel releases calcium ions from the sarcoplasmic reticulum into the surrounding cell fluid (the cytoplasm). The resulting increase in calcium ion concentration triggers the cardiac muscle to contract, which pumps blood out of the heart. Calcium ions are then transported back into the sarcoplasmic reticulum, and the cardiac muscle relaxes. In this way, the release and reuptake of calcium ions in myocytes produces a regular heart rhythm.

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