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RYR3 (ryanodine receptor 3)

Identity

Other aliasRYR-3
HGNC (Hugo) RYR3
LocusID (NCBI) 6263
Atlas_Id 53267
Location 15q14  [Link to chromosome band 15q14]
Location_base_pair Starts at 33603163 and ends at 34158304 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
LARP4 (12q13.12) / RYR3 (15q14)PRKACB (1p31.1) / RYR3 (15q14)RYR3 (15q14) / DAB1 (1p32.2)
RYR3 (15q14) / LARP4 (12q13.12)LARP4 12q13.12 / RYR3 15q14RYR3 15q14 / LARP4 12q13.12

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)RYR3   10485
Cards
Entrez_Gene (NCBI)RYR3  6263  ryanodine receptor 3
AliasesRYR-3
GeneCards (Weizmann)RYR3
Ensembl hg19 (Hinxton)ENSG00000198838 [Gene_View]  chr15:33603163-34158304 [Contig_View]  RYR3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000198838 [Gene_View]  chr15:33603163-34158304 [Contig_View]  RYR3 [Vega]
ICGC DataPortalENSG00000198838
TCGA cBioPortalRYR3
AceView (NCBI)RYR3
Genatlas (Paris)RYR3
WikiGenes6263
SOURCE (Princeton)RYR3
Genetics Home Reference (NIH)RYR3
Genomic and cartography
GoldenPath hg19 (UCSC)RYR3  -     chr15:33603163-34158304 +  15q14   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RYR3  -     15q14   [Description]    (hg38-Dec_2013)
EnsemblRYR3 - 15q14 [CytoView hg19]  RYR3 - 15q14 [CytoView hg38]
Mapping of homologs : NCBIRYR3 [Mapview hg19]  RYR3 [Mapview hg38]
OMIM180903   
Gene and transcription
Genbank (Entrez)AB001025 AJ001515 AJ002512 BQ003017 X74269
RefSeq transcript (Entrez)NM_001036 NM_001243996
RefSeq genomic (Entrez)NC_000015 NC_018926 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)RYR3
Cluster EST : UnigeneHs.709373 [ NCBI ]
CGAP (NCI)Hs.709373
Alternative Splicing GalleryENSG00000198838
Gene ExpressionRYR3 [ NCBI-GEO ]   RYR3 [ EBI - ARRAY_EXPRESS ]   RYR3 [ SEEK ]   RYR3 [ MEM ]
Gene Expression Viewer (FireBrowse)RYR3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6263
GTEX Portal (Tissue expression)RYR3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15413   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15413  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15413
Splice isoforms : SwissVarQ15413
PhosPhoSitePlusQ15413
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    MIR (PS50919)   
Domains : Interpro (EBI)ARM-type_fold    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)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)MIR (SM00472)  SPRY (SM00449)  
Conserved Domain (NCBI)RYR3
DMDM Disease mutations6263
Blocks (Seattle)RYR3
PDB (SRS)4ERV   
PDB (PDBSum)4ERV   
PDB (IMB)4ERV   
PDB (RSDB)4ERV   
Structural Biology KnowledgeBase4ERV   
SCOP (Structural Classification of Proteins)4ERV   
CATH (Classification of proteins structures)4ERV   
SuperfamilyQ15413
Human Protein AtlasENSG00000198838
Peptide AtlasQ15413
HPRD01620
IPIIPI00329784   IPI00217188   IPI00952627   IPI00893362   
Protein Interaction databases
DIP (DOE-UCLA)Q15413
IntAct (EBI)Q15413
FunCoupENSG00000198838
BioGRIDRYR3
STRING (EMBL)RYR3
ZODIACRYR3
Ontologies - Pathways
QuickGOQ15413
Ontology : AmiGOryanodine-sensitive calcium-release channel activity  ryanodine-sensitive calcium-release channel activity  calcium ion binding  calmodulin binding  calcium ion transport  calcium-release channel activity  integral component of membrane  sarcoplasmic reticulum  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  ion transmembrane transport  release of sequestered calcium ion into cytosol  release of sequestered calcium ion into cytosol  release of sequestered calcium ion into cytosol  release of sequestered calcium ion into cytosol  protein homotetramerization  calcium ion transmembrane transport  cellular response to calcium ion  cellular response to magnesium ion  cellular response to caffeine  cellular response to ATP  regulation of cardiac conduction  
Ontology : EGO-EBIryanodine-sensitive calcium-release channel activity  ryanodine-sensitive calcium-release channel activity  calcium ion binding  calmodulin binding  calcium ion transport  calcium-release channel activity  integral component of membrane  sarcoplasmic reticulum  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  ion transmembrane transport  release of sequestered calcium ion into cytosol  release of sequestered calcium ion into cytosol  release of sequestered calcium ion into cytosol  release of sequestered calcium ion into cytosol  protein homotetramerization  calcium ion transmembrane transport  cellular response to calcium ion  cellular response to magnesium ion  cellular response to caffeine  cellular response to ATP  regulation of cardiac conduction  
Pathways : KEGGCalcium signaling pathway    Circadian entrainment    Salivary secretion    Alzheimer's disease   
NDEx NetworkRYR3
Atlas of Cancer Signalling NetworkRYR3
Wikipedia pathwaysRYR3
Orthology - Evolution
OrthoDB6263
GeneTree (enSembl)ENSG00000198838
Phylogenetic Trees/Animal Genes : TreeFamRYR3
HOVERGENQ15413
HOGENOMQ15413
Homologs : HomoloGeneRYR3
Homology/Alignments : Family Browser (UCSC)RYR3
Gene fusions - Rearrangements
Fusion : MitelmanLARP4/RYR3 [12q13.12/15q14]  [t(12;15)(q13;q14)]  
Fusion : MitelmanRYR3/DAB1 [15q14/1p32.2]  [t(1;15)(p32;q14)]  
Fusion : MitelmanRYR3/LARP4 [15q14/12q13.12]  [t(12;15)(q13;q14)]  
Fusion: TCGALARP4 12q13.12 RYR3 15q14 BRCA
Fusion: TCGARYR3 15q14 LARP4 12q13.12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRYR3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RYR3
dbVarRYR3
ClinVarRYR3
1000_GenomesRYR3 
Exome Variant ServerRYR3
ExAC (Exome Aggregation Consortium)RYR3 (select the gene name)
Genetic variants : HAPMAP6263
Genomic Variants (DGV)RYR3 [DGVbeta]
DECIPHER (Syndromes)15:33603163-34158304  ENSG00000198838
CONAN: Copy Number AnalysisRYR3 
Mutations
ICGC Data PortalRYR3 
TCGA Data PortalRYR3 
Broad Tumor PortalRYR3
OASIS PortalRYR3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRYR3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRYR3
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 RYR3
DgiDB (Drug Gene Interaction Database)RYR3
DoCM (Curated mutations)RYR3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RYR3 (select a term)
intoGenRYR3
Cancer3DRYR3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180903   
Orphanet
MedgenRYR3
Genetic Testing Registry RYR3
NextProtQ15413 [Medical]
TSGene6263
GENETestsRYR3
Huge Navigator RYR3 [HugePedia]
snp3D : Map Gene to Disease6263
BioCentury BCIQRYR3
ClinGenRYR3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6263
Chemical/Pharm GKB GenePA34897
Clinical trialRYR3
Miscellaneous
canSAR (ICR)RYR3 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRYR3
EVEXRYR3
GoPubMedRYR3
iHOPRYR3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 13:26:00 CET 2017

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