Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RYR2 (ryanodine receptor 2 (cardiac))

Identity

Other namesARVC2
ARVD2
RYR-2
RyR
VTSIP
HGNC (Hugo) RYR2
LocusID (NCBI) 6262
Location 1q43
Location_base_pair Starts at 237205702 and ends at 237997288 bp from pter ( according to hg19-Feb_2009)
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

 

External links

Nomenclature
HGNC (Hugo)RYR2   10484
Cards
Entrez_Gene (NCBI)RYR2  6262  ryanodine receptor 2 (cardiac)
GeneCards (Weizmann)RYR2
Ensembl (Hinxton)ENSG00000198626 [Gene_View]  chr1:237205702-237997288 [Contig_View]  RYR2 [Vega]
ICGC DataPortalENSG00000198626
cBioPortalRYR2
AceView (NCBI)RYR2
Genatlas (Paris)RYR2
WikiGenes6262
SOURCE (Princeton)NM_001035
Genomic and cartography
GoldenPath (UCSC)RYR2  -  1q43   chr1:237205702-237997288 +  1q43   [Description]    (hg19-Feb_2009)
EnsemblRYR2 - 1q43 [CytoView]
Mapping of homologs : NCBIRYR2 [Mapview]
OMIM180902   600996   604772   
Gene and transcription
Genbank (Entrez)AB204532 AB204533 AB204534 AB204535 AB204536
RefSeq transcript (Entrez)NM_001035
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_008799 NT_167186 NW_001838549 NW_004929294
Consensus coding sequences : CCDS (NCBI)RYR2
Cluster EST : UnigeneHs.738571 [ NCBI ]
CGAP (NCI)Hs.738571
Alternative Splicing : Fast-db (Paris)GSHG0001572
Alternative Splicing GalleryENSG00000198626
Gene ExpressionRYR2 [ NCBI-GEO ]     RYR2 [ SEEK ]   RYR2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92736 (Uniprot)
NextProtQ92736  [Medical]
With graphics : InterProQ92736
Splice isoforms : SwissVarQ92736 (Swissvar)
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    MIR (PS50919)   
Domains : Interpro (EBI)B30.2/SPRY [organisation]   Ca-rel_channel [organisation]   ConA-like_lec_gl_sf [organisation]   EF-hand-dom_pair [organisation]   EF_hand_dom [organisation]   Ins145_P3_rcpt [organisation]   Ion_trans_dom [organisation]   MIR_motif [organisation]   RIH_assoc-dom [organisation]   Ryan_recept [organisation]   Ryanodine_rcpt [organisation]   Ryanodine_recept-rel [organisation]   Ryanrecept_TM4-6 [organisation]   SPla/RYanodine_receptor_subgr [organisation]   SPRY_rcpt [organisation]  
Related proteins : CluSTrQ92736
Domain families : Pfam (Sanger)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)pfam08709    pfam00520    pfam02815    pfam08454    pfam06459    pfam01365    pfam02026    pfam00622   
Domain families : Smart (EMBL)EFh (SM00054)  MIR (SM00472)  SPRY (SM00449)  
DMDM Disease mutations6262
Blocks (Seattle)Q92736
Human Protein AtlasENSG00000198626 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ92736
HPRD01619
IPIIPI00023217   IPI00218501   IPI00910130   IPI00982894   IPI01012298   
Protein Interaction databases
DIP (DOE-UCLA)Q92736
IntAct (EBI)Q92736
FunCoupENSG00000198626
BioGRIDRYR2
InParanoidQ92736
Interologous Interaction database Q92736
IntegromeDBRYR2
STRING (EMBL)RYR2
Ontologies - Pathways
Ontology : AmiGOresponse to hypoxia  regulation of heart rate  embryonic heart tube morphogenesis  left ventricular cardiac muscle tissue morphogenesis  cardiac muscle hypertrophy  intracellular ligand-gated calcium 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  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  junctional sarcoplasmic reticulum membrane  release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  calcium-release channel activity  membrane  sarcoplasmic reticulum  calcium-mediated signaling  enzyme binding  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  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  cytosolic calcium ion homeostasis  response to redox state  transmembrane transport  regulation of cardiac muscle contraction  cardiac muscle contraction  canonical Wnt receptor signaling pathway  calcium ion transport into cytosol  sarcoplasmic reticulum calcium ion transport  cellular response to caffeine  cellular response to caffeine  cellular response to epinephrine stimulus  establishment of protein localization to endoplasmic reticulum  regulation of ventricular cardiac muscle cell action potential  Purkinje myocyte to ventricular cardiac muscle cell signaling  cell communication by electrical coupling involved in cardiac conduction  positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction  type B pancreatic cell apoptotic process  positive regulation of calcium-transporting ATPase activity  
Ontology : EGO-EBIresponse to hypoxia  regulation of heart rate  embryonic heart tube morphogenesis  left ventricular cardiac muscle tissue morphogenesis  cardiac muscle hypertrophy  intracellular ligand-gated calcium 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  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  junctional sarcoplasmic reticulum membrane  release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  calcium-release channel activity  membrane  sarcoplasmic reticulum  calcium-mediated signaling  enzyme binding  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  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  cytosolic calcium ion homeostasis  response to redox state  transmembrane transport  regulation of cardiac muscle contraction  cardiac muscle contraction  canonical Wnt receptor signaling pathway  calcium ion transport into cytosol  sarcoplasmic reticulum calcium ion transport  cellular response to caffeine  cellular response to caffeine  cellular response to epinephrine stimulus  establishment of protein localization to endoplasmic reticulum  regulation of ventricular cardiac muscle cell action potential  Purkinje myocyte to ventricular cardiac muscle cell signaling  cell communication by electrical coupling involved in cardiac conduction  positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction  type B pancreatic cell apoptotic process  positive regulation of calcium-transporting ATPase activity  
Pathways : BIOCARTAActions of Nitric Oxide in the Heart [Genes]   
Pathways : KEGGCalcium signaling pathway    Cardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Circadian entrainment    Insulin secretion    Pancreatic secretion    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
Protein Interaction DatabaseRYR2
Wikipedia pathwaysRYR2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RYR2
snp3D : Map Gene to Disease6262
SNP (GeneSNP Utah)RYR2
SNP : HGBaseRYR2
Genetic variants : HAPMAPRYR2
Exome VariantRYR2
1000_GenomesRYR2 
ICGC programENSG00000198626 
Somatic Mutations in Cancer : COSMICRYR2 
CONAN: Copy Number AnalysisRYR2 
Mutations and Diseases : HGMDRYR2
Genomic VariantsRYR2  RYR2 [DGVbeta]
dbVarRYR2
ClinVarRYR2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM180902    600996    604772   
MedgenRYR2
GENETestsRYR2
Disease Genetic AssociationRYR2
Huge Navigator RYR2 [HugePedia]  RYR2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneRYR2
Homology/Alignments : Family Browser (UCSC)RYR2
Phylogenetic Trees/Animal Genes : TreeFamRYR2
Chemical/Protein Interactions : CTD6262
Chemical/Pharm GKB GenePA300
Clinical trialRYR2
Cancer Resource (Charite)ENSG00000198626
Other databases
Probes
Litterature
PubMed141 Pubmed reference(s) in Entrez
CoreMineRYR2
iHOPRYR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 17:17:43 CEST 2014
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