RYR2 (ryanodine receptor 2 (cardiac))

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

RYR2 (ryanodine receptor 2 (cardiac))

Identity

Other names	ARVC2
	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 DataPortal	ENSG00000198626
cBioPortal	RYR2
AceView (NCBI)	RYR2
Genatlas (Paris)	RYR2
WikiGenes	6262
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)
Ensembl	RYR2 - 1q43 [CytoView hg19] RYR2 - 1q43 [CytoView hg38]
Mapping of homologs : NCBI	RYR2 [Mapview hg19] RYR2 [Mapview hg38]
OMIM	180902 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 : Unigene	Hs.738571 [ NCBI ]
CGAP (NCI)	Hs.738571
Alternative Splicing : Fast-db (Paris)	GSHG0001572
Alternative Splicing Gallery	ENSG00000198626
Gene Expression	RYR2 [ NCBI-GEO ] RYR2 [ SEEK ] RYR2 [ MEM ]
SOURCE (Princeton)	Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q92736 (Uniprot)
NextProt	Q92736 [Medical]
With graphics : InterPro	Q92736
Splice isoforms : SwissVar	Q92736 (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 : CluSTr	Q92736
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 mutations	6262
Blocks (Seattle)	Q92736
PDB (SRS)	4JKQ
PDB (PDBSum)	4JKQ
PDB (IMB)	4JKQ
PDB (RSDB)	4JKQ
Human Protein Atlas	ENSG00000198626
Peptide Atlas	Q92736
HPRD	01619
IPI	IPI00023217 IPI00218501 IPI00910130 IPI00982894 IPI01012298
	Protein Interaction databases
DIP (DOE-UCLA)	Q92736
IntAct (EBI)	Q92736
FunCoup	ENSG00000198626
BioGRID	RYR2
IntegromeDB	RYR2
STRING (EMBL)	RYR2
	Ontologies - Pathways
QuickGO	Q92736
Ontology : AmiGO	response 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-EBI	response 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 : BIOCARTA	Actions of Nitric Oxide in the Heart [Genes]
Pathways : KEGG	Calcium 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 Database	RYR2
DoCM (Curated mutations)	RYR2
Wikipedia pathways	RYR2
	Gene fusion - rearrangements
	Polymorphisms : SNP, variants
NCBI Variation Viewer	RYR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	RYR2
dbVar	RYR2
ClinVar	RYR2
1000_Genomes	RYR2
Exome Variant Server	RYR2
SNP (GeneSNP Utah)	RYR2
SNP : HGBase	RYR2
Genetic variants : HAPMAP	RYR2
Genomic Variants (DGV)	RYR2 [DGVbeta]
	Mutations
ICGC Data Portal	ENSG00000198626
Somatic Mutations in Cancer : COSMIC	RYR2
CONAN: Copy Number Analysis	RYR2
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 : HGMD	RYR2
OMIM	180902 600996 604772
Medgen	RYR2
NextProt	Q92736 [Medical]
GENETests	RYR2
Disease Genetic Association	RYR2
Huge Navigator	RYR2 [HugePedia] RYR2 [HugeCancerGEM]
snp3D : Map Gene to Disease	6262
DGIdb (Drug Gene Interaction db)	RYR2
	General knowledge
Homologs : HomoloGene	RYR2
Homology/Alignments : Family Browser (UCSC)	RYR2
Phylogenetic Trees/Animal Genes : TreeFam	RYR2
Chemical/Protein Interactions : CTD	6262
Chemical/Pharm GKB Gene	PA300
Clinical trial	RYR2
Cancer Resource (Charite)	ENSG00000198626
	Other databases
	Probes
	Litterature
PubMed	146 Pubmed reference(s) in Entrez
CoreMine	RYR2
GoPubMed	RYR2
iHOP	RYR2

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S

Updated	12-2014	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Feb 14 18:25:47 CET 2015

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jlhuret@AtlasGeneticsOncology.org.