RYR2 (ryanodine receptor 2)

2007-06-01  

Identity

HGNC
LOCATION
1q43
LOCUSID
ALIAS
ARVC2,ARVD2,RYR-2,RyR,VACRDS,VTSIP
FUSION GENES

Other Information

Locus ID:

NCBI: 6262
MIM: 180902
HGNC: 10484
Ensembl: ENSG00000198626

Variants:

dbSNP: 6262
ClinVar: 6262
TCGA: ENSG00000198626
COSMIC: RYR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198626ENST00000360064H7BY35
ENSG00000198626ENST00000366574Q92736
ENSG00000198626ENST00000609119A0A590UK06
ENSG00000198626ENST00000659194A0A590UJZ8
ENSG00000198626ENST00000660292A0A590UKB7
ENSG00000198626ENST00000661330A0A590UJF6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Calcium signaling pathwayKEGGhsa04020
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Insulin secretionKEGGhsa04911
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166123311catecholaminergic polymorphic ventricular tachycardiaDiseaseDataAnnotation, Literature, MultilinkAnnotationassociated23788249
PA443635Cardiovascular DiseasesDiseaseClinicalAnnotationassociatedPD25753936, 27839692
PA445549RhabdomyolysisDiseaseClinicalAnnotationassociatedPD21386754
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD25753936, 27839692
PA448897cerivastatinChemicalClinicalAnnotationassociatedPD21386754
PA451363simvastatinChemicalClinicalAnnotationassociatedPD25753936, 27839692

References

Pubmed IDYearTitleCitations
150167282004Ca2+/calmodulin-dependent protein kinase II phosphorylation regulates the cardiac ryanodine receptor.217
224564742012Enhanced sarcoplasmic reticulum Ca2+ leak and increased Na+-Ca2+ exchanger function underlie delayed afterdepolarizations in patients with chronic atrial fibrillation.171
158516122005Defective cardiac ryanodine receptor regulation during atrial fibrillation.103
168255802006Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model.92
151971502004Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak.85
193986652009Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia.85
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
221788702011In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells.82
166012292006Abnormal interactions of calsequestrin with the ryanodine receptor calcium release channel complex linked to exercise-induced sudden cardiac death.72
225117492012Role of RyR2 phosphorylation at S2814 during heart failure progression.72

Citation

Dessen P

RYR2 (ryanodine receptor 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/47558/ryr2