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ITPR2 (inositol 1,4,5-trisphosphate receptor, type 2)

Identity

Other namesIP3R2
HGNC (Hugo) ITPR2
LocusID (NCBI) 3709
Location 12p12.1
Location_base_pair Starts at 26488285 and ends at 26986131 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)ITPR2   6181
Entrez_Gene (NCBI)ITPR2  3709  inositol 1,4,5-trisphosphate receptor, type 2
Cards
GeneCards (Weizmann)ITPR2
Ensembl (Hinxton)ENSG00000123104 [Gene_View]  chr12:26488285-26986131 [Contig_View]  ITPR2 [Vega]
AceView (NCBI)ITPR2
Genatlas (Paris)ITPR2
SOURCE (Stanford)NM_002223
Genomic and cartography
GoldenPath (UCSC)ITPR2  -  12p12.1   chr12:26488285-26986131 -  12p12.1   [Description]    (hg19-Feb_2009)
EnsemblITPR2 - 12p12.1 [CytoView]
Mapping of homologs : NCBIITPR2 [Mapview]
OMIM600144   
Gene and transcription
Genbank (Entrez)AB012610 AK307686 AK307712 AK310504 AL711179
RefSeq transcript (SRS)NM_002223
RefSeq transcript (Entrez)NM_002223
RefSeq genomic (SRS)AC_000144 NC_000012 NC_018923 NT_009714 NW_001838052 NW_004078074
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NT_009714 NW_001838052 NW_004078074
Consensus coding sequences : CCDS (NCBI)ITPR2
Cluster EST : UnigeneHs.512235 [ SRS ] Hs.512235 [ NCBI ]
CGAP (NCI)Hs.512235
Alternative Splicing : Fast-db (Paris)GSHG0007339
Alternative Splicing GalleryENSG00000123104
Gene ExpressionITPR2 [ NCBI-GEO ]   ITPR2 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14571 (SRS) Q14571 (Uniprot)
NextProtQ14571
With graphics : InterProQ14571
Splice isoforms : SwissVarQ14571(Swissvar)
Domaine pattern : Prosite (SRS)MIR (PS50919)   
Domaine pattern : Prosite (Expaxy)MIR (PS50919)   
Domains : Interpro (SRS)Ca-rel_channel    Ins145_P3_rcpt    InsP3_rcpt-bd    Ion_trans_dom    MIR_motif    RIH_assoc-dom    Ryanodine_recept-rel   
Domains : Interpro (EBI)Ca-rel_channel    Ins145_P3_rcpt    InsP3_rcpt-bd    Ion_trans_dom    MIR_motif    RIH_assoc-dom    Ryanodine_recept-rel   
Related proteins : CluSTrQ14571
Domain families : Pfam (SRS)Ins145_P3_rec (PF08709)    Ion_trans (PF00520)    MIR (PF02815)    RIH_assoc (PF08454)    RYDR_ITPR (PF01365)   
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)  
DMDM3709
Blocks (Seattle)Q14571
Human Protein AtlasENSG00000123104
HPRD02536
IPIIPI00031545   IPI00218668   IPI00790132   IPI01014569   
Protein Interaction databases
DIP (DOE-UCLA)Q14571
IntAct (EBI)Q14571
FunCoupENSG00000123104
REACTOMEITPR2
Protein Interaction Database3709
BioGRIDITPR2
InParanoidQ14571
Interologous Interaction database Q14571
IntegromeDBITPR2
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ITPR2
SNP (GeneSNP Utah)ITPR2
SNP : HGBaseITPR2
Genetic variants : HAPMAPITPR2
Somatic Mutations in Cancer : COSMICITPR2 
CONAN: Copy Number AnalysisITPR2 
Translocation Breakpoints in Cancer : TICdbITPR2 
Mutations and Diseases : HGMDITPR2
OMIM600144   
GENETests600144   
Disease Genetic AssociationITPR2
Huge Navigator ITPR2 [HugePedia]  ITPR2 [HugeCancerGEM]
Genomic VariantsITPR2  ITPR2 [DGVbeta]
snp3D : Map Gene to Disease3709
General knowledge
Homologs : HomoloGeneITPR2
Homology/Alignments : Family Browser (UCSC)ITPR2
Phylogenetic Trees/Animal Genes : TreeFamITPR2
Chemical/Protein Interactions : CTD3709
Chemical/Pharm GKB GenePA29979
Clinical trialITPR2
Cancer Resource (Charite)ENSG00000123104
Ontology : AmiGOresponse to hypoxia  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  endoplasmic reticulum membrane  plasma membrane  cell cortex  energy reserve metabolic process  transport  signal transduction  epidermal growth factor receptor signaling pathway  activation of phospholipase C activity  blood coagulation  fibroblast growth factor receptor signaling pathway  calcium ion transmembrane transporter activity  integral to membrane  platelet activation  platelet dense tubular network membrane  sarcoplasmic reticulum membrane  phosphatidylinositol binding  small molecule metabolic process  nerve growth factor receptor signaling pathway  regulation of insulin secretion  cellular response to cAMP  
Ontology : EGO-EBIresponse to hypoxia  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  endoplasmic reticulum membrane  plasma membrane  cell cortex  energy reserve metabolic process  transport  signal transduction  epidermal growth factor receptor signaling pathway  activation of phospholipase C activity  blood coagulation  fibroblast growth factor receptor signaling pathway  calcium ion transmembrane transporter activity  integral to membrane  platelet activation  platelet dense tubular network membrane  sarcoplasmic reticulum membrane  phosphatidylinositol binding  small molecule metabolic process  nerve growth factor receptor signaling pathway  regulation of insulin secretion  cellular response to cAMP  
Pathways : KEGGLong-term depressionCalcium signaling pathwayGnRH signaling pathwayLong-term potentiationGap junctionPhosphatidylinositol signaling system
Other databases
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
PubGeneITPR2
iHOPITPR2
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:20:36 CEST 2013

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