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RYR2 (ryanodine receptor 2)

Identity

Alias_namesARVD2
arrhythmogenic right ventricular dysplasia 2
ryanodine receptor 2 (cardiac)
Alias_symbol (synonym)ARVC2
VTSIP
Other aliasRYR-2
RyR
HGNC (Hugo) RYR2
LocusID (NCBI) 6262
Atlas_Id 47558
Location 1q43  [Link to chromosome band 1q43]
Location_base_pair Starts at 237042402 and ends at 237833988 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
NFIA (1p31.3) / RYR2 (1q43)RBFOX3 (17q25.3) / RYR2 (1q43)RYR2 (1q43) / CALR (19p13.2)
RYR2 (1q43) / CC2D2A (4p15.32)RYR2 (1q43) / RYR2 (1q43)RYR2 (1q43) / TUBB6 (18p11.21)
RYR2 (1q43) / WLS (1p31.3)SUSD4 (1q41) / RYR2 (1q43)WARS2 (1p12) / RYR2 (1q43)
RYR2 1q43 / WLS 1p31.3SUSD4 1q41 / RYR2 1q43

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;1)(p31;q43) RYR2/WLS

External links

Nomenclature
HGNC (Hugo)RYR2   10484
LRG (Locus Reference Genomic)LRG_402
Cards
Entrez_Gene (NCBI)RYR2  6262  ryanodine receptor 2
AliasesARVC2; ARVD2; RYR-2; RyR; 
VTSIP
GeneCards (Weizmann)RYR2
Ensembl hg19 (Hinxton)ENSG00000198626 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198626 [Gene_View]  ENSG00000198626 [Sequence]  chr1:237042402-237833988 [Contig_View]  RYR2 [Vega]
ICGC DataPortalENSG00000198626
TCGA cBioPortalRYR2
AceView (NCBI)RYR2
Genatlas (Paris)RYR2
WikiGenes6262
SOURCE (Princeton)RYR2
Genetics Home Reference (NIH)RYR2
Genomic and cartography
GoldenPath hg38 (UCSC)RYR2  -     chr1:237042402-237833988 +  1q43   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RYR2  -     1q43   [Description]    (hg19-Feb_2009)
EnsemblRYR2 - 1q43 [CytoView hg19]  RYR2 - 1q43 [CytoView hg38]
Mapping of homologs : NCBIRYR2 [Mapview hg19]  RYR2 [Mapview hg38]
OMIM180902   600996   604772   
Gene and transcription
Genbank (Entrez)AB204532 AB204533 AB204534 AB204535 AB204536
RefSeq transcript (Entrez)NM_001035
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RYR2
Cluster EST : UnigeneHs.738571 [ NCBI ]
CGAP (NCI)Hs.738571
Alternative Splicing GalleryENSG00000198626
Gene ExpressionRYR2 [ NCBI-GEO ]   RYR2 [ EBI - ARRAY_EXPRESS ]   RYR2 [ SEEK ]   RYR2 [ MEM ]
Gene Expression Viewer (FireBrowse)RYR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6262
GTEX Portal (Tissue expression)RYR2
Human Protein AtlasENSG00000198626-RYR2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92736   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92736  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92736
Splice isoforms : SwissVarQ92736
PhosPhoSitePlusQ92736
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    MIR (PS50919)   
Domains : Interpro (EBI)B30.2/SPRY    ConA-like_dom    EF-hand-dom_pair    EF_hand_dom    Ins145_P3_rcpt    Ion_trans_dom    MIR_motif    RIH_assoc-dom    RIH_dom    Ryan_recept    Ryanodine_rcpt    Ryanodine_recept-rel    Ryanrecept_TM4-6    SPRY_dom   
Domain families : Pfam (Sanger)EF-hand_8 (PF13833)    Ins145_P3_rec (PF08709)    Ion_trans (PF00520)    MIR (PF02815)    RIH_assoc (PF08454)    RR_TM4-6 (PF06459)    RYDR_ITPR (PF01365)    RyR (PF02026)    SPRY (PF00622)   
Domain families : Pfam (NCBI)pfam13833    pfam08709    pfam00520    pfam02815    pfam08454    pfam06459    pfam01365    pfam02026    pfam00622   
Domain families : Smart (EMBL)MIR (SM00472)  SPRY (SM00449)  
Conserved Domain (NCBI)RYR2
DMDM Disease mutations6262
Blocks (Seattle)RYR2
PDB (SRS)4JKQ   
PDB (PDBSum)4JKQ   
PDB (IMB)4JKQ   
PDB (RSDB)4JKQ   
Structural Biology KnowledgeBase4JKQ   
SCOP (Structural Classification of Proteins)4JKQ   
CATH (Classification of proteins structures)4JKQ   
SuperfamilyQ92736
Human Protein Atlas [tissue]ENSG00000198626-RYR2 [tissue]
Peptide AtlasQ92736
HPRD01619
IPIIPI00023217   IPI00218501   IPI00910130   IPI00982894   IPI01012298   
Protein Interaction databases
DIP (DOE-UCLA)Q92736
IntAct (EBI)Q92736
FunCoupENSG00000198626
BioGRIDRYR2
STRING (EMBL)RYR2
ZODIACRYR2
Ontologies - Pathways
QuickGOQ92736
Ontology : AmiGOresponse to hypoxia  regulation of heart rate  embryonic heart tube morphogenesis  left ventricular cardiac muscle tissue morphogenesis  cardiac muscle hypertrophy  ryanodine-sensitive calcium-release channel activity  ryanodine-sensitive calcium-release channel activity  calcium channel activity  calcium ion binding  detection of calcium ion  protein binding  calmodulin binding  calmodulin binding  calmodulin binding  calmodulin binding  smooth endoplasmic reticulum  plasma membrane  plasma membrane  calcium ion transport  cellular calcium ion homeostasis  positive regulation of heart rate  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by calcium ion signaling  junctional sarcoplasmic reticulum membrane  release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  response to muscle activity  calcium-release channel activity  calcium-release channel activity  membrane  sarcoplasmic reticulum  calcium-mediated signaling  enzyme binding  Z disc  Z disc  BMP signaling pathway  response to caffeine  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  ion transmembrane transport  protein kinase A catalytic subunit binding  protein kinase A regulatory subunit binding  calcium channel complex  calcium-mediated signaling using intracellular calcium source  response to muscle stretch  identical protein binding  protein complex  protein self-association  suramin binding  ion channel binding  calcium-induced calcium release activity  release of sequestered calcium ion into cytosol  release of sequestered calcium ion into cytosol  positive regulation of sequestering of calcium ion  regulation of cytosolic calcium ion concentration  response to redox state  regulation of cardiac muscle contraction  cardiac muscle contraction  canonical Wnt signaling pathway  calcium ion transport into cytosol  extracellular exosome  sarcoplasmic reticulum calcium ion transport  cellular response to caffeine  cellular response to caffeine  cellular response to epinephrine stimulus  cellular response to epinephrine stimulus  establishment of protein localization to endoplasmic reticulum  ventricular cardiac muscle cell action potential  Purkinje myocyte to ventricular cardiac muscle cell signaling  cell communication by electrical coupling involved in cardiac conduction  type B pancreatic cell apoptotic process  positive regulation of the force of heart contraction  regulation of AV node cell action potential  regulation of SA node cell action potential  regulation of atrial cardiac muscle cell action potential  regulation of ventricular cardiac muscle cell action potential  positive regulation of calcium-transporting ATPase activity  regulation of cardiac conduction  
Ontology : EGO-EBIresponse to hypoxia  regulation of heart rate  embryonic heart tube morphogenesis  left ventricular cardiac muscle tissue morphogenesis  cardiac muscle hypertrophy  ryanodine-sensitive calcium-release channel activity  ryanodine-sensitive calcium-release channel activity  calcium channel activity  calcium ion binding  detection of calcium ion  protein binding  calmodulin binding  calmodulin binding  calmodulin binding  calmodulin binding  smooth endoplasmic reticulum  plasma membrane  plasma membrane  calcium ion transport  cellular calcium ion homeostasis  positive regulation of heart rate  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by calcium ion signaling  junctional sarcoplasmic reticulum membrane  release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  response to muscle activity  calcium-release channel activity  calcium-release channel activity  membrane  sarcoplasmic reticulum  calcium-mediated signaling  enzyme binding  Z disc  Z disc  BMP signaling pathway  response to caffeine  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  ion transmembrane transport  protein kinase A catalytic subunit binding  protein kinase A regulatory subunit binding  calcium channel complex  calcium-mediated signaling using intracellular calcium source  response to muscle stretch  identical protein binding  protein complex  protein self-association  suramin binding  ion channel binding  calcium-induced calcium release activity  release of sequestered calcium ion into cytosol  release of sequestered calcium ion into cytosol  positive regulation of sequestering of calcium ion  regulation of cytosolic calcium ion concentration  response to redox state  regulation of cardiac muscle contraction  cardiac muscle contraction  canonical Wnt signaling pathway  calcium ion transport into cytosol  extracellular exosome  sarcoplasmic reticulum calcium ion transport  cellular response to caffeine  cellular response to caffeine  cellular response to epinephrine stimulus  cellular response to epinephrine stimulus  establishment of protein localization to endoplasmic reticulum  ventricular cardiac muscle cell action potential  Purkinje myocyte to ventricular cardiac muscle cell signaling  cell communication by electrical coupling involved in cardiac conduction  type B pancreatic cell apoptotic process  positive regulation of the force of heart contraction  regulation of AV node cell action potential  regulation of SA node cell action potential  regulation of atrial cardiac muscle cell action potential  regulation of ventricular cardiac muscle cell action potential  positive regulation of calcium-transporting ATPase activity  regulation of cardiac conduction  
Pathways : BIOCARTAActions of Nitric Oxide in the Heart [Genes]   
Pathways : KEGGCalcium signaling pathway   
NDEx NetworkRYR2
Atlas of Cancer Signalling NetworkRYR2
Wikipedia pathwaysRYR2
Orthology - Evolution
OrthoDB6262
GeneTree (enSembl)ENSG00000198626
Phylogenetic Trees/Animal Genes : TreeFamRYR2
HOVERGENQ92736
HOGENOMQ92736
Homologs : HomoloGeneRYR2
Homology/Alignments : Family Browser (UCSC)RYR2
Gene fusions - Rearrangements
Fusion : MitelmanRYR2/WLS [1q43/1p31.3]  
Fusion PortalRYR2 1q43 WLS 1p31.3 LGG
Fusion PortalSUSD4 1q41 RYR2 1q43 BRCA
Fusion : QuiverRYR2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRYR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RYR2
dbVarRYR2
ClinVarRYR2
1000_GenomesRYR2 
Exome Variant ServerRYR2
ExAC (Exome Aggregation Consortium)ENSG00000198626
GNOMAD BrowserENSG00000198626
Genetic variants : HAPMAP6262
Genomic Variants (DGV)RYR2 [DGVbeta]
DECIPHERRYR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRYR2 
Mutations
ICGC Data PortalRYR2 
TCGA Data PortalRYR2 
Broad Tumor PortalRYR2
OASIS PortalRYR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRYR2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRYR2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RYR2
DgiDB (Drug Gene Interaction Database)RYR2
DoCM (Curated mutations)RYR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RYR2 (select a term)
intoGenRYR2
Cancer3DRYR2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180902    600996    604772   
Orphanet3525    20888    20887    20886   
DisGeNETRYR2
MedgenRYR2
Genetic Testing Registry RYR2
NextProtQ92736 [Medical]
TSGene6262
GENETestsRYR2
Target ValidationRYR2
Huge Navigator RYR2 [HugePedia]
snp3D : Map Gene to Disease6262
BioCentury BCIQRYR2
ClinGenRYR2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6262
Chemical/Pharm GKB GenePA300
Clinical trialRYR2
Miscellaneous
canSAR (ICR)RYR2 (select the gene name)
Probes
Litterature
PubMed209 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRYR2
EVEXRYR2
GoPubMedRYR2
iHOPRYR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:48:12 CEST 2018
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