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

Identity

Alias_namesinositol 1,4,5-triphosphate receptor, type 2
inositol 1,4,5-trisphosphate receptor, type 2
Alias_symbol (synonym)IP3R2
CFAP48
Other aliasANHD
INSP3R2
HGNC (Hugo) ITPR2
LocusID (NCBI) 3709
Atlas_Id 47218
Location 12p12.1  [Link to chromosome band 12p12]
Location_base_pair Starts at 26488270 and ends at 26986131 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARF3 (12q13.12) / ITPR2 (12p12.1)ARNTL2 (12p11.23) / ITPR2 (12p12.1)BCAT1 (12p12.1) / ITPR2 (12p12.1)
C2CD5 (12p12.1) / ITPR2 (12p12.1)DNM1L (12p11.21) / ITPR2 (12p12.1)ETV6 (12p13.2) / ITPR2 (12p12.1)
FGFR1OP2 (12p11.23) / ITPR2 (12p12.1)ITPR2 (12p12.1) / ADIPOR2 (12p13.33)ITPR2 (12p12.1) / ANO2 (12p13.31)
ITPR2 (12p12.1) / CCDC91 (12p11.22)ITPR2 (12p12.1) / EIF5 (14q32.32)ITPR2 (12p12.1) / GAREM ()
ITPR2 (12p12.1) / GTF3C2 (2p23.3)ITPR2 (12p12.1) / HOMER1 (5q14.1)ITPR2 (12p12.1) / ITPR2 (12p12.1)
ITPR2 (12p12.1) / RASSF3 (12q14.2)POLDIP3 (22q13.2) / ITPR2 (12p12.1)SUGP2 (19p13.11) / ITPR2 (12p12.1)
ZNF766 (19q13.41) / ITPR2 (12p12.1)ETV6 12p13.2 / ITPR2 12p12.1ARNTL2 12p11.23 / ITPR2 12p12.1
BCAT1 12p12.1 / ITPR2 12p12.1DNM1L 12p11.21 / ITPR2 12p12.1ITPR2 12p12.1 / ADIPOR2 12p13.33
ITPR2 12p12.1 / ANO2 12p13.31ITPR2 12p12.1 / RASSF3 12q14.2KIAA0528 ITPR2 12p12.1

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
Cards
Entrez_Gene (NCBI)ITPR2  3709  inositol 1,4,5-trisphosphate receptor type 2
AliasesANHD; CFAP48; INSP3R2; IP3R2
GeneCards (Weizmann)ITPR2
Ensembl hg19 (Hinxton)ENSG00000123104 [Gene_View]  chr12:26488270-26986131 [Contig_View]  ITPR2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000123104 [Gene_View]  chr12:26488270-26986131 [Contig_View]  ITPR2 [Vega]
ICGC DataPortalENSG00000123104
TCGA cBioPortalITPR2
AceView (NCBI)ITPR2
Genatlas (Paris)ITPR2
WikiGenes3709
SOURCE (Princeton)ITPR2
Genetics Home Reference (NIH)ITPR2
Genomic and cartography
GoldenPath hg19 (UCSC)ITPR2  -     chr12:26488270-26986131 -  12p12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ITPR2  -     12p12.1   [Description]    (hg38-Dec_2013)
EnsemblITPR2 - 12p12.1 [CytoView hg19]  ITPR2 - 12p12.1 [CytoView hg38]
Mapping of homologs : NCBIITPR2 [Mapview hg19]  ITPR2 [Mapview hg38]
OMIM106190   600144   
Gene and transcription
Genbank (Entrez)AB012610 AI339141 AK307686 AK307712 AK310504
RefSeq transcript (Entrez)NM_002223
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_042142 NT_009714 NW_004929383
Consensus coding sequences : CCDS (NCBI)ITPR2
Cluster EST : UnigeneHs.512235 [ NCBI ]
CGAP (NCI)Hs.512235
Alternative Splicing GalleryENSG00000123104
Gene ExpressionITPR2 [ NCBI-GEO ]   ITPR2 [ EBI - ARRAY_EXPRESS ]   ITPR2 [ SEEK ]   ITPR2 [ MEM ]
Gene Expression Viewer (FireBrowse)ITPR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3709
GTEX Portal (Tissue expression)ITPR2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14571   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14571  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14571
Splice isoforms : SwissVarQ14571
PhosPhoSitePlusQ14571
Domaine pattern : Prosite (Expaxy)MIR (PS50919)   
Domains : Interpro (EBI)ARM-type_fold    Ins145_P3_rcpt    InsP3_rcpt-bd    Ion_trans_dom    MIR_motif    RIH_assoc-dom    RIH_dom    Ryanodine_recept-rel   
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)  
Conserved Domain (NCBI)ITPR2
DMDM Disease mutations3709
Blocks (Seattle)ITPR2
SuperfamilyQ14571
Human Protein AtlasENSG00000123104
Peptide AtlasQ14571
HPRD02536
IPIIPI00031545   IPI00218668   IPI00790132   IPI01014569   
Protein Interaction databases
DIP (DOE-UCLA)Q14571
IntAct (EBI)Q14571
FunCoupENSG00000123104
BioGRIDITPR2
STRING (EMBL)ITPR2
ZODIACITPR2
Ontologies - Pathways
QuickGOQ14571
Ontology : AmiGOresponse to hypoxia  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  endoplasmic reticulum membrane  plasma membrane  cell cortex  transport  signal transduction  calcium ion transmembrane transporter activity  membrane  integral component of membrane  platelet activation  platelet dense tubular network membrane  sarcoplasmic reticulum membrane  phosphatidylinositol binding  receptor complex  inositol phosphate-mediated signaling  regulation of insulin secretion  release of sequestered calcium ion into cytosol  cellular response to cAMP  cellular response to ethanol  regulation of cardiac conduction  
Ontology : EGO-EBIresponse to hypoxia  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  endoplasmic reticulum membrane  plasma membrane  cell cortex  transport  signal transduction  calcium ion transmembrane transporter activity  membrane  integral component of membrane  platelet activation  platelet dense tubular network membrane  sarcoplasmic reticulum membrane  phosphatidylinositol binding  receptor complex  inositol phosphate-mediated signaling  regulation of insulin secretion  release of sequestered calcium ion into cytosol  cellular response to cAMP  cellular response to ethanol  regulation of cardiac conduction  
Pathways : KEGGCalcium signaling pathway    Phosphatidylinositol signaling system    Oocyte meiosis    Vascular smooth muscle contraction    Gap junction    Long-term potentiation    Retrograde endocannabinoid signaling    Glutamatergic synapse    Cholinergic synapse    Serotonergic synapse    Dopaminergic synapse    Long-term depression    GnRH signaling pathway    Estrogen signaling pathway    Thyroid hormone synthesis    Salivary secretion    Gastric acid secretion    Pancreatic secretion    Alzheimer's disease    Proteoglycans in cancer   
NDEx NetworkITPR2
Atlas of Cancer Signalling NetworkITPR2
Wikipedia pathwaysITPR2
Orthology - Evolution
OrthoDB3709
GeneTree (enSembl)ENSG00000123104
Phylogenetic Trees/Animal Genes : TreeFamITPR2
HOVERGENQ14571
HOGENOMQ14571
Homologs : HomoloGeneITPR2
Homology/Alignments : Family Browser (UCSC)ITPR2
Gene fusions - Rearrangements
Fusion : MitelmanARNTL2/ITPR2 [12p11.23/12p12.1]  [t(12;12)(p11;p11)]  
Fusion : MitelmanBCAT1/ITPR2 [12p12.1/12p12.1]  [t(12;12)(p11;p12)]  
Fusion : MitelmanC2CD5/ITPR2 [12p12.1/12p12.1]  [t(12;12)(p11;p12)]  
Fusion : MitelmanDNM1L/ITPR2 [12p11.21/12p12.1]  [t(12;12)(p11;p11)]  
Fusion : MitelmanETV6/ITPR2 [12p13.2/12p12.1]  [t(12;12)(p11;p13)]  
Fusion : MitelmanITPR2/ADIPOR2 [12p12.1/12p13.33]  [t(12;12)(p11;p13)]  
Fusion : MitelmanITPR2/ANO2 [12p12.1/12p13.31]  [t(12;12)(p11;p13)]  
Fusion : MitelmanITPR2/RASSF3 [12p12.1/12q14.2]  [t(12;12)(p11;q14)]  
Fusion: TCGAARNTL2 12p11.23 ITPR2 12p12.1 BRCA
Fusion: TCGABCAT1 12p12.1 ITPR2 12p12.1 BRCA
Fusion: TCGADNM1L 12p11.21 ITPR2 12p12.1 LUAD
Fusion: TCGAITPR2 12p12.1 ADIPOR2 12p13.33 LGG
Fusion: TCGAITPR2 12p12.1 ANO2 12p13.31 BRCA
Fusion: TCGAITPR2 12p12.1 RASSF3 12q14.2 LUAD
Fusion: TCGAKIAA0528 ITPR2 12p12.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITPR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITPR2
dbVarITPR2
ClinVarITPR2
1000_GenomesITPR2 
Exome Variant ServerITPR2
ExAC (Exome Aggregation Consortium)ITPR2 (select the gene name)
Genetic variants : HAPMAP3709
Genomic Variants (DGV)ITPR2 [DGVbeta]
DECIPHER (Syndromes)12:26488270-26986131  ENSG00000123104
CONAN: Copy Number AnalysisITPR2 
Mutations
ICGC Data PortalITPR2 
TCGA Data PortalITPR2 
Broad Tumor PortalITPR2
OASIS PortalITPR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITPR2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITPR2
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 ITPR2
DgiDB (Drug Gene Interaction Database)ITPR2
DoCM (Curated mutations)ITPR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITPR2 (select a term)
intoGenITPR2
Cancer3DITPR2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM106190    600144   
Orphanet
MedgenITPR2
Genetic Testing Registry ITPR2
NextProtQ14571 [Medical]
TSGene3709
GENETestsITPR2
Huge Navigator ITPR2 [HugePedia]
snp3D : Map Gene to Disease3709
BioCentury BCIQITPR2
ClinGenITPR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3709
Chemical/Pharm GKB GenePA29979
Clinical trialITPR2
Miscellaneous
canSAR (ICR)ITPR2 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITPR2
EVEXITPR2
GoPubMedITPR2
iHOPITPR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:11:17 CET 2017

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