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 hg19 (Hinxton)ENSG00000198626 [Gene_View]  chr1:237205702-237997288 [Contig_View]  RYR2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000198626 [Gene_View]  chr1:237205702-237997288 [Contig_View]  RYR2 [Vega]
ICGC DataPortalENSG00000198626
cBioPortalRYR2
AceView (NCBI)RYR2
Genatlas (Paris)RYR2
WikiGenes6262
SOURCE (Princeton)RYR2
Genomic and cartography
GoldenPath hg19 (UCSC)RYR2  -     chr1:237205702-237997288 +  1q43   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RYR2  -     1q43   [Description]    (hg38-Dec_2013)
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)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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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    ConA-like_lec_gl_sf    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    SPla/RYanodine_receptor_subgr    SPRY_rcpt   
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
PDB (SRS)4JKQ   
PDB (PDBSum)4JKQ   
PDB (IMB)4JKQ   
PDB (RSDB)4JKQ   
Human Protein AtlasENSG00000198626
Peptide AtlasQ92736
HPRD01619
IPIIPI00023217   IPI00218501   IPI00910130   IPI00982894   IPI01012298   
Protein Interaction databases
DIP (DOE-UCLA)Q92736
IntAct (EBI)Q92736
FunCoupENSG00000198626
BioGRIDRYR2
IntegromeDBRYR2
STRING (EMBL)RYR2
Ontologies - Pathways
QuickGOQ92736
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 signaling pathway  calcium ion transport into cytosol  extracellular vesicular exosome  sarcoplasmic reticulum calcium ion transport  calcium ion transmembrane transport  cellular response to caffeine  cellular response to caffeine  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  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 signaling pathway  calcium ion transport into cytosol  extracellular vesicular exosome  sarcoplasmic reticulum calcium ion transport  calcium ion transmembrane transport  cellular response to caffeine  cellular response to caffeine  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  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
DoCM (Curated mutations)RYR2
Wikipedia pathwaysRYR2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerRYR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RYR2
dbVarRYR2
ClinVarRYR2
1000_GenomesRYR2 
Exome Variant ServerRYR2
SNP (GeneSNP Utah)RYR2
SNP : HGBaseRYR2
Genetic variants : HAPMAPRYR2
Genomic VariantsRYR2  RYR2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000198626 
Somatic Mutations in Cancer : COSMICRYR2 
CONAN: Copy Number AnalysisRYR2 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:237205702-237997288
Mutations and Diseases : HGMDRYR2
OMIM180902    600996    604772   
MedgenRYR2
NextProtQ92736 [Medical]
GENETestsRYR2
Disease Genetic AssociationRYR2
Huge Navigator RYR2 [HugePedia]  RYR2 [HugeCancerGEM]
snp3D : Map Gene to Disease6262
DGIdb (Drug Gene Interaction db)RYR2
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
PubMed146 Pubmed reference(s) in Entrez
CoreMineRYR2
GoPubMedRYR2
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
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:17:29 CET 2014
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