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ITPR3 (inositol 1,4,5-trisphosphate receptor, type 3)

Identity

Other namesIP3R
IP3R3
HGNC (Hugo) ITPR3
LocusID (NCBI) 3710
Location 6p21.31
Location_base_pair Starts at 33589156 and ends at 33664348 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)ITPR3   6182
Cards
Entrez_Gene (NCBI)ITPR3  3710  inositol 1,4,5-trisphosphate receptor, type 3
GeneCards (Weizmann)ITPR3
Ensembl (Hinxton)ENSG00000096433 [Gene_View]  chr6:33589156-33664348 [Contig_View]  ITPR3 [Vega]
ICGC DataPortalENSG00000096433
cBioPortalITPR3
AceView (NCBI)ITPR3
Genatlas (Paris)ITPR3
WikiGenes3710
SOURCE (Princeton)NM_002224
Genomic and cartography
GoldenPath (UCSC)ITPR3  -  6p21.31   chr6:33589156-33664348 +  6p21.31   [Description]    (hg19-Feb_2009)
EnsemblITPR3 - 6p21.31 [CytoView]
Mapping of homologs : NCBIITPR3 [Mapview]
OMIM147267   222100   
Gene and transcription
Genbank (Entrez)AB209739 AK093524 AL832807 BC146646 BC172406
RefSeq transcript (Entrez)NM_002224
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_027729 NT_007592 NW_001838980 NW_004929326
Consensus coding sequences : CCDS (NCBI)ITPR3
Cluster EST : UnigeneHs.65758 [ NCBI ]
CGAP (NCI)Hs.65758
Alternative Splicing : Fast-db (Paris)GSHG0025656
Alternative Splicing GalleryENSG00000096433
Gene ExpressionITPR3 [ NCBI-GEO ]     ITPR3 [ SEEK ]   ITPR3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14573 (Uniprot)
NextProtQ14573  [Medical]
With graphics : InterProQ14573
Splice isoforms : SwissVarQ14573 (Swissvar)
Domaine pattern : Prosite (Expaxy)MIR (PS50919)   
Domains : Interpro (EBI)Ins145_P3_rcpt [organisation]   InsP3_rcpt-bd [organisation]   Ion_trans_dom [organisation]   MIR_motif [organisation]   RIH_assoc-dom [organisation]   RIH_dom [organisation]   Ryanodine_recept-rel [organisation]  
Related proteins : CluSTrQ14573
Domain families : Pfam (Sanger)Ins145_P3_rec (PF08709)    Ion_trans (PF00520)    MIR (PF02815)    RIH_assoc (PF08454)    RYDR_ITPR (PF01365)   
Domain families : Pfam (NCBI)pfam08709    pfam00520    pfam02815    pfam08454    pfam01365   
Domain families : Smart (EMBL)MIR (SM00472)  
DMDM Disease mutations3710
Blocks (Seattle)Q14573
Human Protein AtlasENSG00000096433 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ14573
HPRD00926
IPIIPI00291607   
Protein Interaction databases
DIP (DOE-UCLA)Q14573
IntAct (EBI)Q14573
FunCoupENSG00000096433
BioGRIDITPR3
InParanoidQ14573
Interologous Interaction database Q14573
IntegromeDBITPR3
STRING (EMBL)ITPR3
Ontologies - Pathways
Ontology : AmiGOinositol hexakisphosphate binding  intracellular ligand-gated calcium channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  protein binding  nuclear outer membrane  nucleoplasm  nucleolus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  plasma membrane  integral component of plasma membrane  brush border  energy reserve metabolic process  signal transduction  epidermal growth factor receptor signaling pathway  G-protein coupled receptor signaling pathway  activation of phospholipase C activity  positive regulation of cytosolic calcium ion concentration  blood coagulation  memory  fibroblast growth factor receptor signaling pathway  membrane  platelet activation  platelet dense tubular network membrane  phosphatidylinositol binding  Fc-epsilon receptor signaling pathway  Fc-gamma receptor signaling pathway involved in phagocytosis  neuronal cell body  myelin sheath  receptor complex  inositol 1,3,4,5 tetrakisphosphate binding  small molecule metabolic process  innate immune response  apical part of cell  neurotrophin TRK receptor signaling pathway  inositol phosphate-mediated signaling  regulation of insulin secretion  sensory perception of bitter taste  sensory perception of sweet taste  sensory perception of umami taste  protein homooligomerization  protein heterooligomerization  response to calcium ion  long-term synaptic potentiation  calcium ion transport into cytosol  calcium ion transmembrane transport  inositol 1,4,5 trisphosphate binding  
Ontology : EGO-EBIinositol hexakisphosphate binding  intracellular ligand-gated calcium channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  protein binding  nuclear outer membrane  nucleoplasm  nucleolus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  plasma membrane  integral component of plasma membrane  brush border  energy reserve metabolic process  signal transduction  epidermal growth factor receptor signaling pathway  G-protein coupled receptor signaling pathway  activation of phospholipase C activity  positive regulation of cytosolic calcium ion concentration  blood coagulation  memory  fibroblast growth factor receptor signaling pathway  membrane  platelet activation  platelet dense tubular network membrane  phosphatidylinositol binding  Fc-epsilon receptor signaling pathway  Fc-gamma receptor signaling pathway involved in phagocytosis  neuronal cell body  myelin sheath  receptor complex  inositol 1,3,4,5 tetrakisphosphate binding  small molecule metabolic process  innate immune response  apical part of cell  neurotrophin TRK receptor signaling pathway  inositol phosphate-mediated signaling  regulation of insulin secretion  sensory perception of bitter taste  sensory perception of sweet taste  sensory perception of umami taste  protein homooligomerization  protein heterooligomerization  response to calcium ion  long-term synaptic potentiation  calcium ion transport into cytosol  calcium ion transmembrane transport  inositol 1,4,5 trisphosphate binding  
Pathways : KEGGCalcium signaling pathway    Phosphatidylinositol signaling system    Oocyte meiosis    Vascular smooth muscle contraction    Gap junction    Circadian entrainment    Long-term potentiation    Retrograde endocannabinoid signaling    Glutamatergic synapse    Cholinergic synapse    Serotonergic synapse    Dopaminergic synapse    Long-term depression    Taste transduction    Insulin secretion    GnRH signaling pathway    Estrogen signaling pathway    Thyroid hormone synthesis    Salivary secretion    Gastric acid secretion    Pancreatic secretion    Alzheimer's disease    Proteoglycans in cancer   
Protein Interaction DatabaseITPR3
Wikipedia pathwaysITPR3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ITPR3
snp3D : Map Gene to Disease3710
SNP (GeneSNP Utah)ITPR3
SNP : HGBaseITPR3
Genetic variants : HAPMAPITPR3
Exome VariantITPR3
1000_GenomesITPR3 
ICGC programENSG00000096433 
Somatic Mutations in Cancer : COSMICITPR3 
CONAN: Copy Number AnalysisITPR3 
Mutations and Diseases : HGMDITPR3
Mutations and Diseases : intOGenITPR3
Genomic VariantsITPR3  ITPR3 [DGVbeta]
dbVarITPR3
ClinVarITPR3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM147267    222100   
MedgenITPR3
GENETestsITPR3
Disease Genetic AssociationITPR3
Huge Navigator ITPR3 [HugePedia]  ITPR3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneITPR3
Homology/Alignments : Family Browser (UCSC)ITPR3
Phylogenetic Trees/Animal Genes : TreeFamITPR3
Chemical/Protein Interactions : CTD3710
Chemical/Pharm GKB GenePA29980
Clinical trialITPR3
Cancer Resource (Charite)ENSG00000096433
Other databases
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
CoreMineITPR3
iHOPITPR3
OncoSearchITPR3
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 : Tue Aug 26 16:51:24 CEST 2014

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