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

Identity

Alias (NCBI)ANHD
CFAP48
INSP3R2
IP3R2
HGNC (Hugo) ITPR2
HGNC Alias symbIP3R2
CFAP48
HGNC Alias namecilia and flagella associated protein 48
HGNC Previous nameinositol 1,4,5-triphosphate receptor, type 2
 inositol 1,4,5-trisphosphate receptor, type 2
LocusID (NCBI) 3709
Atlas_Id 47218
Location 12p11.23  [Link to chromosome band 12p11]
Location_base_pair Starts at 26335352 and ends at 26833194 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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 ITPR2ARNTL2 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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 9 ]
  ARNTL2/ITPR2 (12p11)
DNM1L/ITPR2 (12p11)
t(12;12)(p11;p12) BCAT1/ITPR2
t(12;12)(p11;p12) C2CD5/ITPR2
t(12;12)(p11;p13) ETV6/ITPR2
t(12;12)(p11;p13) ITPR2/ADIPOR2
t(12;12)(p11;p13) ITPR2/ANO2
t(12;12)(p11;p13) ETV6/ITPR2
t(12;12)(p11;q14) ITPR2/RASSF3

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]
Ensembl hg38 (Hinxton)ENSG00000123104 [Gene_View]  ENSG00000123104 [Sequence]  chr12:26335352-26833194 [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 hg38 (UCSC)ITPR2  -     chr12:26335352-26833194 -  12p11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITPR2  -     12p11.23   [Description]    (hg19-Feb_2009)
GoldenPathITPR2 - 12p11.23 [CytoView hg19]  ITPR2 - 12p11.23 [CytoView hg38]
ImmunoBaseENSG00000123104
genome Data Viewer NCBIITPR2 [Mapview hg19]  
OMIM106190   600144   
Gene and transcription
Genbank (Entrez)AB012610 AI339141 AK307686 AK307712 AK310504
RefSeq transcript (Entrez)NM_002223
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITPR2
Alternative Splicing GalleryENSG00000123104
Gene ExpressionITPR2 [ NCBI-GEO ]   ITPR2 [ EBI - ARRAY_EXPRESS ]   ITPR2 [ SEEK ]   ITPR2 [ MEM ]
Gene Expression Viewer (FireBrowse)ITPR2 [ Firebrowse - Broad ]
GenevisibleExpression of ITPR2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3709
GTEX Portal (Tissue expression)ITPR2
Human Protein AtlasENSG00000123104-ITPR2 [pathology]   [cell]   [tissue]
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    Ion_trans_dom    MIR_dom_sf    MIR_motif    RIH_assoc-dom    RIH_dom    RyR/IP3R_RIH_dom_sf   
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 Atlas [tissue]ENSG00000123104-ITPR2 [tissue]
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  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  calcium ion binding  nucleoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  plasma membrane  plasma membrane  cell cortex  signal transduction  calcium ion transmembrane transporter activity  membrane  integral component of membrane  sarcoplasmic reticulum  platelet activation  cytoplasmic vesicle membrane  secretory granule membrane  platelet dense tubular network membrane  sarcoplasmic reticulum membrane  phosphatidylinositol binding  receptor complex  ion channel binding  inositol phosphate-mediated signaling  regulation of insulin secretion  release of sequestered calcium ion into cytosol  release of sequestered calcium ion into cytosol  inositol 1,4,5 trisphosphate binding  cellular response to cAMP  cellular response to ethanol  scaffold protein binding  regulation of cardiac conduction  
Ontology : EGO-EBIresponse to hypoxia  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  calcium ion binding  nucleoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  plasma membrane  plasma membrane  cell cortex  signal transduction  calcium ion transmembrane transporter activity  membrane  integral component of membrane  sarcoplasmic reticulum  platelet activation  cytoplasmic vesicle membrane  secretory granule membrane  platelet dense tubular network membrane  sarcoplasmic reticulum membrane  phosphatidylinositol binding  receptor complex  ion channel binding  inositol phosphate-mediated signaling  regulation of insulin secretion  release of sequestered calcium ion into cytosol  release of sequestered calcium ion into cytosol  inositol 1,4,5 trisphosphate binding  cellular response to cAMP  cellular response to ethanol  scaffold protein binding  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
HOGENOMQ14571
Homologs : HomoloGeneITPR2
Homology/Alignments : Family Browser (UCSC)ITPR2
Gene fusions - Rearrangements
Fusion : MitelmanARNTL2/ITPR2 [12p11.23/12p12.1]  
Fusion : MitelmanBCAT1/ITPR2 [12p12.1/12p12.1]  
Fusion : MitelmanC2CD5/ITPR2 [12p12.1/12p12.1]  
Fusion : MitelmanDNM1L/ITPR2 [12p11.21/12p12.1]  
Fusion : MitelmanETV6/ITPR2 [12p13.2/12p12.1]  
Fusion : MitelmanITPR2/ADIPOR2 [12p12.1/12p13.33]  
Fusion : MitelmanITPR2/ANO2 [12p12.1/12p13.31]  
Fusion : MitelmanITPR2/RASSF3 [12p12.1/12q14.2]  
Fusion PortalARNTL2 12p11.23 ITPR2 12p12.1 BRCA
Fusion PortalBCAT1 12p12.1 ITPR2 12p12.1 BRCA
Fusion PortalDNM1L 12p11.21 ITPR2 12p12.1 LUAD
Fusion PortalITPR2 12p12.1 ADIPOR2 12p13.33 LGG
Fusion PortalITPR2 12p12.1 ANO2 12p13.31 BRCA
Fusion PortalITPR2 12p12.1 RASSF3 12q14.2 LUAD
Fusion PortalKIAA0528 ITPR2 12p12.1 BRCA
Fusion : QuiverITPR2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITPR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITPR2
dbVarITPR2
ClinVarITPR2
MonarchITPR2
1000_GenomesITPR2 
Exome Variant ServerITPR2
GNOMAD BrowserENSG00000123104
Varsome BrowserITPR2
Genetic variants : HAPMAP3709
Genomic Variants (DGV)ITPR2 [DGVbeta]
DECIPHERITPR2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DITPR2
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM106190    600144   
Orphanet
DisGeNETITPR2
MedgenITPR2
Genetic Testing Registry ITPR2
NextProtQ14571 [Medical]
TSGene3709
GENETestsITPR2
Target ValidationITPR2
Huge Navigator ITPR2 [HugePedia]
snp3D : Map Gene to Disease3709
BioCentury BCIQITPR2
ClinGenITPR2
Clinical trials, drugs, therapy
Protein Interactions : CTD3709
Pharm GKB GenePA29979
Clinical trialITPR2
Miscellaneous
canSAR (ICR)ITPR2 (select the gene name)
HarmonizomeITPR2
DataMed IndexITPR2
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITPR2
EVEXITPR2
GoPubMedITPR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:16:19 CEST 2020
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