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ITPR2 Gene

protein-coding   GIFtS: 65
GCID: GC12M026390

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

(Previous names: inositol 1,4,5-triphosphate receptor, type 2)
  Search for ITPR2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ITPR2 Gene:
ITPR2 (inositol 1,4,5-trisphosphate receptor, type 2) is a protein-coding gene. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_009714.18  NC_018923.2  
Regulatory elements:
   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 Chromatin IP Primers for ITPR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Phosphorylation by cAMP-dependent PKA on Ser-937 increases calcium release (By similarity)1
  • Ubiquitination2 at Lys909, Lys1589
  • Modification sites at PhosphoSitePlus

  • See ITPR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002214.2  
    ENSEMBL proteins: 
     ENSP00000370744   ENSP00000408287   ENSP00000440548   ENSP00000242737  
    Reactome Protein details: Q14571

    ITPR2 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    OriGene Custom Protein Services for ITPR2
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ITPR2

     
    Search eBioscience for Proteins for ITPR2 

    ITPR2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ITPR2
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    LSBio Antibodies in human, mouse, rat for ITPR2

    ITPR2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ITPR2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ITPR2
    Cloud-Clone Corp. CLIAs for ITPR2
    Search eBioscience for ELISAs for ITPR2 


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: IP3R2
    IP3 receptor

    Selected InterPro protein domains (see all 8):
     IPR014821 Ins145_P3_rcpt
     IPR005821 Ion_trans_dom
     IPR000493 InsP3_rcpt-bd
     IPR015925 Ryanodine_recept-rel
     IPR013662 RIH_assoc-dom

    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


    Find genes that share domains with ITPR2           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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
         
    Find genes that share ontologies with ITPR2           About GenesLikeMe


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

    Find genes that share phenotypes with ITPR2           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITPR2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ITPR2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITPR2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITPR2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ITPR2:
    hsa-mir-935 (MIRT036656), hsa-mir-335-5p (MIRT016967), hsa-mir-324-5p (MIRT043084), hsa-mir-877-3p (MIRT036984)

    Block miRNA regulation of human, mouse, rat ITPR2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ITPR2 (see all 54):
    hsa-miR-4291 hsa-miR-106a hsa-miR-605 hsa-miR-488 hsa-miR-570 hsa-miR-93 hsa-miR-3613-3p hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidITPR2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ITPR2
    Predesigned siRNA for gene silencing in human, mouse, rat ITPR2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for ITPR2 (see all 6)
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    GenScript: all cDNA clones in your preferred vector: ITPR2 (NM_002223)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITPR2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ITPR2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ITPR2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPR2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ITPR2_HUMAN, Q14571: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    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 ----

    Find genes that share ontologies with ITPR2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ITPR2 About   (see all 76)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Ca-dependent events
    DAG and IP3 signaling0.94
    G-protein mediated events0.65
    EGFR interacts with phospholipase C-gamma0.94
    Phospholipase C-mediated cascade0.59
    PLC-gamma1 signalling0.94
    Opioid Signalling0.54
    PLCG1 events in ERBB2 signaling0.92
    Signal transduction Calcium signaling0.35
    2Development Endothelin 1 EDNRA signaling
    Development Endothelin 1 EDNRA signaling0.41
    GnRH signaling pathway0.38
    Development Endothelin 1 EDNRA transactivation of EGFR0.41
    Inflammatory mediator regulation of TRP channels0.37
    Cytoskeleton remodeling FAK signaling0.41
    Estrogen signaling pathway0.34
    3fMLP Pathway
    CCR3 Pathway in Eosinophils0.44
    CXCR4 Pathway0.39
    fMLP Pathway0.43
    Alpha-Adrenergic Signaling0.38
    Signal transduction Activation of PKC via G Protein coupled receptor0.42
    Huntington's Disease Pathway0.30
    4Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    5Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    Gap junction0.31


    Find genes that share SuperPaths with ITPR2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected 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

    Selected Reactome Pathways for ITPR2 (see all 10)
        Regulation of insulin secretion
    DAG and IP3 signaling
    Elevation of cytosolic Ca2+ levels
    Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
    Effects of PIP2 hydrolysis


    Selected Kegg Pathways  (Kegg details for ITPR2) (see all 22):
        Calcium signaling pathway
    Phosphatidylinositol signaling system
    Oocyte meiosis
    Vascular smooth muscle contraction
    Gap junction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ITPR2: 
              Hypertension in human mouse rat
              Gap Junctions in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ITPR2

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

    Selected Interacting proteins for ITPR2 (Q145712, 3 ENSP000003707444) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    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): Selected biological process terms (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 ----

    Find genes that share ontologies with ITPR2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with ITPR2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ITPR2 (see all 54):
    hsa-miR-4291 hsa-miR-106a hsa-miR-605 hsa-miR-488 hsa-miR-570 hsa-miR-93 hsa-miR-3613-3p hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidITPR2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ITPR2 (NM_002223)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ITPR2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ITPR2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ITPR2
      QuantiTect SYBR Green Assays in human, mouse, rat ITPR2
      QuantiFast Probe-based Assays in human, mouse, rat ITPR2

    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 

    Selected AceView cDNA sequences (see all 184):

    AW300095 CF455580 AI040623 BU187754 BQ446287 Z41760 AI000717 BM834732 
    CA308243 AA452735 AA152014 AI862196 BX103595 CR597988 BM919068 AI281517 
    AI521152 BQ025344 T29911 AV725895 BQ049409 AI733806 AI917990 BX506844 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ITPR2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Brain (Nervous System)
             Medulla Oblongata
    ITPR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITPR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512235

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ITPR2: 
              Hypertension in human mouse rat
              Gap Junctions in human mouse rat
              Cardiotoxicity in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ITPR2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ITPR2
    QuantiTect SYBR Green Assays in human, mouse, rat ITPR2
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    In Situ
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ITPR2 gene from Selected species (see all 15)    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_019923.41  NP_064307.21 
     1461082995 
    chicken
    (Gallus gallus)
    Aves ITPR21 inositol 1,4,5-trisphosphate receptor, type 2 83.05(n)
    92.99(a)
      418212  XM_001235612.3  XP_001235613.3 
    lizard
    (Anolis carolinensis)
    Reptilia ITPR26
    inositol 1,4,5-trisphosphate receptor, type 2
    92(a)
    1 ↔ 1
    5(90761784-91032630)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia itpr21 inositol 1,4,5-trisphosphate receptor, type 2 75.24(n)
    88.5(a)
      100124748  XM_002943253.2  XP_002943299.2 
    zebrafish
    (Danio rerio)
    Actinopterygii itpr26
    inositol 1,4,5-triphosphate receptor, type 2
    75(a)
    1 ↔ 1
    18(15616686-15721541) ENSDARG00000011909
    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)
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    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

    Find genes that share paralogs with ITPR2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ITPR2 (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
    ----------
    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--------
    rs1502321741,2
    --26488345(+) TATTGA/GAATCG 1 -- ut310--------
    rs1174022011,2
    C,F--26488376(+) CAATCC/TTCTAC 1 -- ut311Minor allele frequency- T:0.03NA 120

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITPR2
    DNA2.0 Custom Variant and Variant Library Synthesis for ITPR2

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


    Find genes that share disorders with ITPR2           About GenesLikeMe

    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)
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    PubMed articles for ITPR2 gene, integrated from 10 sources (see all 72):
    (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. (Recept. Channels 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. (Lancet Neurol 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. (Neurobiol. Aging 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. (Mol. Med. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Postural changes in blood pressure associated with interactions between candidate genes for chronic respiratory diseases and exposure to particulate matter. (PubMed id 19590686)1, 4 Wilker E....Schwartz J. (Environ. Health Perspect. 2009)
    7. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. (PubMed id 19193627)1, 4 ChiA^ A....Traynor B.J. (Hum. Mol. Genet. 2009)
    8. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 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. (Biochem. J. 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. (J. Cell Biol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 3709 HGNC: 6181 AceView: ITPR2 Ensembl:ENSG00000123104 euGenes: HUgn3709
    ECgene: ITPR2 Kegg: 3709 H-InvDB: ITPR2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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