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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ITPR2 Gene

protein-coding   GIFtS: 64
GCID: GC12M026390

Inositol 1,4,5-Trisphosphate Receptor, Type 2

(Previous names: inositol 1,4,5-triphosphate receptor, type 2)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Inositol 1,4,5-Trisphosphate Receptor, Type 21 2     Inositol 1,4,5-Trisphosphate Receptor Type 22
Inositol 1,4,5-Triphosphate Receptor, Type 21 2     insP3R22
Type 2 Inositol 1,4,5-Trisphosphate Receptor2 3     IP3 Receptor2
Type 2 InsP3 Receptor2 3     InsP3R23
IP3R 22 3     IP3 Receptor Isoform 23
IP3R22     

External Ids:    HGNC: 61811   Entrez Gene: 37092   Ensembl: ENSG000001231047   OMIM: 6001445   UniProtKB: Q145713   

Export aliases for ITPR2 gene to outside databases

Previous GC identifers: GC12M026850 GC12M026502 GC12M026381 GC12M026377 GC12M026258


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ITPR2 Gene: 
ITPR2 (inositol 1,4,5-trisphosphate receptor, type 2) is a protein-coding gene. Diseases associated with ITPR2 include rheumatic disease, and sjogren's syndrome, and among its related super-pathways are fMLP Pathway and Development Endothelin-1/EDNRA transactivation of EGFR. GO annotations related to this gene include phosphatidylinositol binding and calcium ion transmembrane transporter activity. An important paralog of this gene is RYR2.

UniProtKB/Swiss-Prot: ITPR2_HUMAN, Q14571
Function: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular
calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity)

summary for ITPR2 Gene:
Inositol 1,4,5-triphosphate (IP3) receptors are a form of ligand-gated ion channels that are activated by
cytosolic Ca2+ and IP3. They are localized to intracellular membranes, such as the endoplasmic reticulum,
and mediate the mobilization of intracellular Ca2+ stores. IP3 receptors play an important role in
intracellular Ca2+ signaling in a variety of cell types. There are three IP3 receptor subtypes; IP3R1, IP3R2
and IP3R3, which exist as homo- and heterotetramers. All subtypes are closely associated with calmodulin and
FK506-binding protein and are modulated through phosphorylation by PKA, PKC, PKG and CaMKII.

Gene Wiki entry for ITPR2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ITPR2 gene promoter:
         LUN-1   CBF-C   C/EBPalpha   SRY   CBF-A   CBF-B   FOXO4   CP1C   CP1A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITPR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ITPR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITPR2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p11   Ensembl cytogenetic band:  12p11.23   HGNC cytogenetic band: 12p11.23

ITPR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITPR2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M026390:  view genomic region     (about GC identifiers)

Start:
26,488,285 bp from pter      End:
26,986,131 bp from pter
Size:
497,847 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ITPR2_HUMAN, Q14571 (See protein sequence)
Recommended Name: Inositol 1,4,5-trisphosphate receptor type 2  
Size: 2701 amino acids; 308064 Da
Subunit: Homotetramer (By similarity). Interacts with CABP1
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Miscellaneous: Calcium appears to inhibit ligand binding to the receptor, most probably by interacting with a
distinct calcium-binding protein which then inhibits the receptor
Secondary accessions: O94773
Alternative splicing: 2 isoforms:  Q14571-1   Q14571-2   

Explore the universe of human proteins at neXtProt for ITPR2: NX_Q14571

Explore proteomics data for ITPR2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation by cAMP-dependent PKA on Ser-937 increases calcium release (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14571

  • ITPR2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ITPR2 Protein Expression
    REFSEQ proteins: NP_002214.2  
    ENSEMBL proteins: 
     ENSP00000370744   ENSP00000408287   ENSP00000440548   ENSP00000242737  
    Reactome Protein details: Q14571
    Human Recombinant Protein Products for ITPR2: 
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    Cloud-Clone Corp. Proteins for ITPR2 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005886plasma membrane IDA10828023
    GO:0005938cell cortex IEA--
    GO:0016020membrane ----

    ITPR2 for ontologies           About GeneDecksing



    ITPR2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ITPR: Ion channels / Inositol triphosphate receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: IP3R2 
    IP3 receptor

    5/7 InterPro protein domains (see all 7):
     IPR014821 Ins145_P3_rcpt
     IPR005821 Ion_trans_dom
     IPR000493 InsP3_rcpt-bd
     IPR015925 Ryanodine_recept-rel
     IPR000699 Ca-rel_channel

    Graphical View of Domain Structure for InterPro Entry Q14571

    ProtoNet protein and cluster: Q14571

    4 Blocks protein domains:
    IPB000493 Inositol 1,4,5-trisphosphate-binding protein receptor signature
    IPB000699 Intracellular calcium-release channel
    IPB003608 MIR domain
    IPB013662 RyR and IP3R Homology associated


    UniProtKB/Swiss-Prot: ITPR2_HUMAN, Q14571
    Domain: The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic
    region has the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately
    upstream of the channel region
    Similarity: Belongs to the InsP3 receptor family
    Similarity: Contains 5 MIR domains


    ITPR2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ITPR2_HUMAN, Q14571
    Function: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular
    calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity)

         Genatlas biochemistry entry for ITPR2:
    inositol 1,4,5-triphosphate receptor,type 2,coexpressed with RYR3 in neurons and smooth muscle cells forming
    heterotetrameric channel with ITPR1 and ITPR3,involved in mobilization from the endoplastic reticulum,highly
    sensitive to IP3,required for long lasting,regular Ca++ oscillations,transcriptionally regulated during
    myelopoiesis target of EVI-1 and EVI1-VP16 fusion gene

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005220inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IEA--
    GO:0005262calcium channel activity ----
    GO:0005488binding ----
    GO:0015085calcium ion transmembrane transporter activity TAS8081734
         
    ITPR2 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Itpr2):
     behavior/neurological  cardiovascular system  digestive/alimentary  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  mortality/aging  no phenotypic analysis  normal 

    ITPR2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ITPR2: Itpr2tm1Kmik Itpr2tm1.1Chen

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ITPR2 
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    SwitchGear 3'UTR luciferase reporter plasmidITPR2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPR2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ITPR2 About   (see all 78)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1fMLP Pathway
    CCR3 Pathway in Eosinophils0.44
    Alpha-Adrenergic Signaling0.38
    fMLP Pathway0.43
    Signal transduction Calcium signaling0.34
    Signal transduction Activation of PKC via G-Protein coupled receptor0.42
    Huntington's Disease Pathway0.30
    CXCR4 Pathway0.39
    2Development Endothelin-1/EDNRA signaling
    Development Endothelin-1/EDNRA signaling0.41
    GnRH signaling pathway0.38
    Development Endothelin-1/EDNRA transactivation of EGFR0.41
    Estrogen signaling pathway0.34
    Cytoskeleton remodeling FAK signaling0.41
    3Development FGF-family signaling
    Development FGF-family signaling0.63
    FGF Pathway0.38
    Development FGFR signaling pathway0.50
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Alzheimer's disease0.46
    Alzheimers Disease0.44
    5Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    Gap junction0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/39 EMD Millipore Pathways for ITPR2 (see all 39)
        Translation Translation regulation by Alpha-1 adrenergic receptors
    Development Activation of ERK by Alpha-1 adrenergic receptors
    Immune response CD16 signaling in NK cells
    Cytoskeleton remodeling FAK signaling
    Signal transduction IP3 signaling

    5/47 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ITPR2 (see all 47)
        Fc-GammaR Pathway
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    PI3K Signaling in B-Lymphocyte
    PACAP Signaling

    5/41 GeneGo (Thomson Reuters) Pathways for ITPR2 (see all 41)
        Development FGF-family signaling
    Development Endothelin-1/EDNRA signaling
    Immune response CD28 signaling
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    Development VEGF-family signaling

    4 BioSystems Pathways for ITPR2
        Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell
    B Cell Receptor Signaling Pathway
    Alzheimers Disease

    5/45        Reactome Pathways for ITPR2 (see all 45)
        Platelet homeostasis
    Signaling by EGFR in Cancer
    Elevation of cytosolic Ca2+ levels
    Downstream signal transduction
    Signal Transduction


    5/20         Kegg Pathways  (Kegg details for ITPR2) (see all 20):
        Calcium signaling pathway
    Phosphatidylinositol signaling system
    Oocyte meiosis
    Vascular smooth muscle contraction
    Gap junction


    ITPR2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ITPR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/38 Interacting proteins for ITPR2 (Q145712, 3 ENSP000003707444) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRPC4Q9UBN42, 3, ENSP000003690034MINT-14530 MINT-14529 I2D: score=3 STRING: ENSP00000369003
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    BANK1Q8NDB23, ENSP000003205094I2D: score=1 STRING: ENSP00000320509
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    RAC1P630003I2D: score=2 
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IDA19120137
    GO:0006112energy reserve metabolic process TAS--
    GO:0006810transport TAS8081734
    GO:0006811ion transport ----
    GO:0006816calcium ion transport ----

    ITPR2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ITPR2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ITPR2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (-)-Xestospongin CInhibits IP3-mediated Ca2+ release[88903-69-9]
    2-APBIP3 receptor antagonist. Also TRP channel modulator[524-95-8]

    2 HMDB Compounds for ITPR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Inositol 1,4,5-trisphosphate1D-myo-Inositol 1,4,5-trisphosphate (see all 4)88269-39-0--

    6 IUPHAR Ligands for ITPR2 (IP3R2)    About this table 
    LigandTypeActionAffinityPubmed IDs
    IP3
    ActivatorNone--
    decavanadate
    AntagonistAntagonist--
    Ca2+
    ActivatorNone--
    Ins(2,4,5)P3
    ActivatorNone--
    heparin
    AntagonistAntagonist--
    adenophostin A
    ActivatorNone--

    3 Novoseek inferred chemical compound relationships for ITPR2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inositol 1,4,5 trisphosphate 82.5 22 9560445 (1), 10810447 (1), 17332533 (1), 11842185 (1) (see all 14)
    ryanodine 60.4 3 12407053 (1), 16847098 (1), 15710625 (1)
    calcium 49.4 28 15710625 (3), 9166724 (3), 9560445 (1), 16525579 (1) (see all 11)

    Search CenterWatch for drugs/clinical trials and news about ITPR2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for ITPR2 gene: 
    NM_002223.2  

    Unigene Cluster for ITPR2:

    Inositol 1,4,5-trisphosphate receptor, type 2
    Hs.512235  [show with all ESTs]
    Unigene Representative Sequence: NM_002223
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381340(uc001rhg.3 uc009zjg.1 uc001rhh.1 uc001rhi.1)
    ENST00000451599 ENST00000538984 ENST00000540429 ENST00000543958 ENST00000545902
    ENST00000540791 ENST00000545235 ENST00000242737 ENST00000536627
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB012610.1 AK307686.1 AK307712.1 AK310504.1 AY429550.1 D26350.1 

    12 DOTS entries:

    DT.121206042  DT.95266161  DT.85105496  DT.121206140  DT.91967173  DT.95266158  DT.121206111  DT.40198684 
    DT.75112376  DT.80101573  DT.95220632  DT.92030662 

    24/184 AceView cDNA sequences (see all 184):

    AA705345 AI281517 CA419735 AA311523 BQ025344 AV725895 CF455580 BX103595 
    CB156970 AW044646 BE745875 AI000717 CA308243 AI040623 F03841 AA152088 
    AA152014 T29911 CR597988 F07593 BX506844 AA452735 BQ446287 AU139816 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ITPR2 expression in normal human tissues (normalized intensities)      ITPR2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAAATCGA
    ITPR2 Expression
    About this image


    ITPR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Blood (Hematopoietic System)
             nk cells   
     
     Brain (Nervous System)
             Medulla Oblongata

    See ITPR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ITPR2

    SOURCE GeneReport for Unigene cluster: Hs.512235

    UniProtKB/Swiss-Prot: ITPR2_HUMAN, Q14571
    Tissue specificity: Isoform Short is found in skeletal muscle and heart

        SABiosciences Expression via Pathway-Focused PCR Arrays including ITPR2: 
              Hypertension in human mouse rat
              Gap Junctions in human mouse rat
              Cardiotoxicity in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ITPR2 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itpr21 , 5 inositol 1,4,5-triphosphate receptor 21, 5 85.09(n)1
    95.82(a)1
      6 (77.70 cM)5
    164391  NM_019923.31  NP_064307.21 
     1461082995 
    chicken
    (Gallus gallus)
    Aves ITPR21 inositol 1,4,5-trisphosphate receptor, type 2 83.15(n)
    93.07(a)
      418212  XM_001235612.2  XP_001235613.2 
    lizard
    (Anolis carolinensis)
    Reptilia ITPR26
    inositol 1,4,5-trisphosphate receptor, type 2
    92(a)
    1 ↔ 1
    5(90761784-91032630)
    zebrafish
    (Danio rerio)
    Actinopterygii itpr26
    inositol 1,4,5-triphosphate receptor, type 2
    76(a)
    1 ↔ 1
    18(15616686-15721490)
    fruit fly
    (Drosophila melanogaster)
    Insecta Itp-r83A3 molting cycle (sensu Insecta)
    inositol-1,4,5-triphosphate more
    54(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea itr-13 inositol 1,4,5-triphosphate receptor 36(a)   IV(7675362-7696891)   --


    ENSEMBL Gene Tree for ITPR2 (if available)
    TreeFam Gene Tree for ITPR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ITPR2 gene
    RYR22  ITPR32  ITPR12  RYR12  RYR32  
    2 SIMAP similar genes for ITPR2 using alignment to 4 protein entries:     ITPR2_HUMAN (see all proteins):
    ITPR1    ITPR3

    ITPR2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/10107 SNPs in ITPR2 are shown (see all 10107)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0559644
    ----see VAR_0559642 E D mis40--------
    VAR_0559634
    ----see VAR_0559632 A V mis40--------
    rs1897589241,2
    --26487839(+) AGGAAC/TTGTGG 1 -- ds50010--------
    rs1811605061,2
    --26487873(+) ACAAAG/TAATTC 1 -- ds50010--------
    rs763354701,2
    --26487914(+) CCATGC/TTGACT 1 -- ds50010--------
    rs1861515061,2
    --26488022(+) CCCACG/TGAGCT 1 -- ds50010--------
    rs1412942731,2
    --26488080(+) ATTGGA/GGAATT 1 -- ds50010--------
    rs1173679361,2
    F--26488122(+) GTCCAT/ACTGGA 1 -- ds50011Minor allele frequency- A:0.01EA 120
    rs73023441,2
    C,F,A,H--26488182(+) TTGCTA/GTGTAA 1 -- ds500118Minor allele frequency- G:0.31NS EA NA WA 2340
    rs1889057451,2
    --26488310(+) TAACAC/TTCACT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ITPR2 (26488285 - 26738285 bp, first 250kb of ITPR2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/25 variations for ITPR2 (see all 25):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv4216CNV Deletion18987735
    esv2745659CNV Deletion23290073
    esv2579102CNV Deletion19546169
    esv2745661CNV Deletion23290073
    esv2653675CNV Deletion19546169
    esv993210CNV Deletion20482838
    esv2745657CNV Deletion23290073
    esv1263874CNV Deletion17803354
    esv2519123CNV Deletion19546169
    esv2745660CNV Deletion23290073

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600144    OMIM disorders: --

    17 diseases for ITPR2:    About MalaCards
    rheumatic disease    sjogren's syndrome    lateral sclerosis    amyotrophic lateral sclerosis
    huntington's disease    glioblastoma    renal cell carcinoma    hypertension
    hepatitis b    hypoxia    retinitis    alzheimer's disease
    hepatitis    pancreatitis    endotheliitis    breast cancer
    neuronitis


    ITPR2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ITPR2
    Human Genome Epidemiology (HuGE) Navigator: ITPR2 (13 documents)

    Export disorders for ITPR2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ITPR2 gene, integrated from 9 sources (see all 69):
    (articles sorted by number of sources associating them with ITPR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of human type 2 and type 3 inositol 1,4,5-trisphosphate receptors. (PubMed id 8081734)1, 2, 3 Yamamoto-Hino M....Mikoshiba K. (1994)
    2. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. (PubMed id 17827064)1, 4, 9 van Es M.A....van den Berg L.H. (2007)
    3. No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort. (PubMed id 19464757)1, 4 FernA!ndez-Santiago R....Gasser T. (2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Postural changes in blood pressure associated with in teractions between candidate genes for chronic respiratory diseases and exposur e to particulate matter. (PubMed id 19590686)1, 4 Wilker E....Schwartz J. (2009)
    7. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. (PubMed id 19193627)1, 4 ChiA^ A....Traynor B.J. (2009)
    8. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (2008)
    9. Muscle-specific mRNA isoform encodes a protein composed mainly of the N-terminal 175 residues of type 2 Ins(1,4,5)P3 receptor. (PubMed id 9729462)1, 2 Futatsugi A.... Mikoshiba K. (1998)
    10. Selective coupling of type 6 adenylyl cyclase with type 2 IP3 receptors mediates direct sensitization of IP3 receptors by cAMP. (PubMed id 18936250)1, 9 Tovey S.C....Taylor C.W. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3709 HGNC: 6181 AceView: ITPR2 Ensembl:ENSG00000123104 euGenes: HUgn3709
    ECgene: ITPR2 Kegg: 3709 H-InvDB: ITPR2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ITPR2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ITPR2 gene:
    Search GeneIP for patents involving ITPR2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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