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ITPR3 Gene

protein-coding   GIFtS: 68
GCID: GC06P033588

Inositol 1,4,5-Trisphosphate Receptor, Type 3

(Previous names: inositol 1,4,5-triphosphate receptor, type 3)
  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)
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Aliases
Inositol 1,4,5-Trisphosphate Receptor, Type 31 2     insP3R32
Inositol 1,4,5-Triphosphate Receptor, Type 31 2     IP3 Receptor2
Type 3 InsP3 Receptor2 3     InsP3R33
IP3R2     IP3 Receptor Isoform 33
IP3R32     IP3R 33
Inositol 1,4,5-Trisphosphate Receptor Type 32     Type 3 Inositol 1,4,5-Trisphosphate Receptor3

External Ids:    HGNC: 61821   Entrez Gene: 37102   Ensembl: ENSG000000964337   OMIM: 1472675   UniProtKB: Q145733   

Export aliases for ITPR3 gene to outside databases

Previous GC identifers: GC06P033591 GC06P033636 GC06P033697 GC06P033330


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ITPR3 Gene:
This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of
intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at
the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors
play a key role in exocrine secretion underlying energy metabolism and growth. (provided by RefSeq, Aug 2010)

GeneCards Summary for ITPR3 Gene:
ITPR3 (inositol 1,4,5-trisphosphate receptor, type 3) is a protein-coding gene. Diseases associated with ITPR3 include early myoclonic encephalopathy, and coronary artery aneurysm. GO annotations related to this gene include inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity and phosphatidylinositol binding. An important paralog of this gene is RYR2.

UniProtKB/Swiss-Prot: ITPR3_HUMAN, Q14573
Function: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular
calcium

summary for ITPR3 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 ITPR3 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:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ITPR3 gene promoter:
         GCNF   SREBP-1c   MyoD   Tal-1beta   SREBP-1b   Gfi-1   E47   SREBP-1a   GCNF-1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITPR3 promoter sequence
   Search Chromatin IP Primers for ITPR3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITPR3


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

Entrez Gene cytogenetic band: 6p21   Ensembl cytogenetic band:  6p21.31   HGNC cytogenetic band: 6p21.31

ITPR3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITPR3 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P033588:  view genomic region     (about GC identifiers)

Start:
33,588,142 bp from pter      End:
33,664,351 bp from pter
Size:
76,210 bases      Orientation:
plus 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, 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., 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: ITPR3_HUMAN, Q14573 (See protein sequence)
Recommended Name: Inositol 1,4,5-trisphosphate receptor type 3  
Size: 2671 amino acids; 304106 Da
Subunit: Homotetramer. Interacts with SIGMAR1, PML, AKT1, TRPC1, TRPC3 and TRPC4 (By similarity). Interacts with
LRMP (via coiled-coil domain) (By similarity). Interacts with CABP1. Interacts with TMBIM4/LFG4
Secondary accessions: Q14649 Q5TAQ2

Explore the universe of human proteins at neXtProt for ITPR3: NX_Q14573

Explore proteomics data for ITPR3 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine residues. Phosphorylated by AKT1 on serine and/or threonine residues (By similarity)1
  • Ubiquitination2 at Lys1589
  • Glycosylation2 at Asn2405
  • Modification sites at PhosphoSitePlus

  • See ITPR3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002215.2  
    ENSEMBL proteins: 
     ENSP00000363435   ENSP00000475177  
    Reactome Protein details: Q14573

    ITPR3 Human Recombinant Protein Products:

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    ITPR3 Assay Products:

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    GenScript Custom Assay Services for ITPR3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ITPR3
    Cloud-Clone Corp. CLIAs for ITPR3


    (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: IP3R3
    IP3 receptor

    Selected InterPro protein domains (see all 7):
     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 Q14573

    ProtoNet protein and cluster: Q14573

    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: ITPR3_HUMAN, Q14573
    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


    ITPR3 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ITPR3_HUMAN, Q14573
    Function: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular
    calcium

         Genatlas biochemistry entry for ITPR3:
    inositol 1,4,5-triphosphate receptor,type 3,coexpressed with RYR3 in neurons and smooth muscle cells forming
    heterotetrameric channel with ITPR1 and ITPR2,involved in Ca++ mobilization from the endoplastic reticulum,poorly
    sensitive to IP3 and CA++,mediating monophasic Ca++ transients

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000822inositol hexakisphosphate binding ISS--
    GO:0005216ion channel activity ----
    GO:0005218intracellular ligand-gated calcium channel activity ISS--
    GO:0005220inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISS--
    GO:0005262calcium channel activity ----
         
    ITPR3 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Itpr3):
     behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     integument  mortality/aging  no phenotypic analysis  normal  reproductive system 
     taste/olfaction 

    ITPR3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ITPR3: Itpr3tm1(NCOM)Mfgc Itpr3tm1Kmik

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITPR3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ITPR3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITPR3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITPR3

    miRNA
    Products:
        
    miRTarBase miRNAs that target ITPR3:
    hsa-mir-96-5p (MIRT048721), hsa-mir-23b-3p (MIRT046325), hsa-mir-877-3p (MIRT036993), hsa-mir-92a-3p (MIRT049194), hsa-mir-1226-3p (MIRT036459)

    Block miRNA regulation of human, mouse, rat ITPR3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ITPR3 (see all 14):
    hsa-miR-323-3p hsa-miR-142-3p hsa-miR-3910 hsa-miR-148b* hsa-miR-520f hsa-miR-628-3p hsa-miR-223 hsa-miR-3168
    SwitchGear 3'UTR luciferase reporter plasmidITPR3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ITPR3
    Predesigned siRNA for gene silencing in human, mouse, rat ITPR3

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for ITPR3 (see all 5)
    OriGene ORF clones in mouse, rat for ITPR3
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    GenScript: all cDNA clones in your preferred vector: ITPR3 (NM_002224)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITPR3

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPR3


    (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
    ITPR3_HUMAN, Q14573: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4
    nucleus3
    mitochondrion2
    cytoskeleton1
    cytosol1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005640nuclear outer membrane ISS--
    GO:0005654nucleoplasm IEA--
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm ISS--

    ITPR3 for ontologies           About GeneDecksing


    (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 ITPR3 About   (see all 77)  
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ITPR3 (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 ITPR3 (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

    3 BioSystems Pathways for ITPR3
        Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell
    Alzheimers Disease

    Selected Reactome Pathways for ITPR3 (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 ITPR3) (see all 25):
        Calcium signaling pathway
    Phosphatidylinositol signaling system
    Oocyte meiosis
    Vascular smooth muscle contraction
    Gap junction


    ITPR3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ITPR3
    Interactions:

        GeneGlobe Interaction Network for ITPR3

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

    Selected Interacting proteins for ITPR3 (Q145731, 2, 3 ENSP000003634354) via UniProtKB, MINT, STRING, and/or I2D (see all 98)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRPC3Q135071, 3, ENSP000003689664EBI-351055,EBI-520807 I2D: score=4 STRING: ENSP00000368966
    TRPC6Q9Y2103, ENSP000003409134I2D: score=3 STRING: ENSP00000340913
    ANK1P161573, ENSP000002657094I2D: score=2 STRING: ENSP00000265709
    TRPC5Q9UL623, ENSP000002628394I2D: score=2 STRING: ENSP00000262839
    CABP1Q9NZU73, ENSP000003173104I2D: score=1 STRING: ENSP00000317310
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0006811ion transport ----
    GO:0006816calcium ion transport ----
    GO:0007165signal transduction TAS--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--

    ITPR3 for ontologies           About GeneDecksing



    (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 drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ITPR3 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 ITPR3    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--

    4 IUPHAR Ligands for ITPR3 (IP3R3)    About this table
    LigandTypeActionAffinityPubmed IDs
    IP3
    ActivatorNone--
    decavanadate
    AntagonistAntagonist--
    Ca2+
    ActivatorNone--
    heparin
    AntagonistAntagonist--

    7 Novoseek inferred chemical compound relationships for ITPR3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inositol 1,4,5 trisphosphate 87.3 38 8610112 (3), 9535884 (3), 16960798 (2), 14666665 (2) (see all 17)
    cyclic adp-ribose 55 1 10326677 (1)
    thimerosal 54.1 1 10326677 (1)
    calcium 53.1 29 15531634 (3), 17257671 (3), 14666665 (2), 12198155 (2) (see all 14)
    inositol 26.6 1 7508924 (1)
    aspartate 6.99 1 12198155 (1)
    atp 1.16 4 15531634 (2), 9535884 (1)



    ITPR3 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ITPR3 gene: 
    NM_002224.3  

    Unigene Cluster for ITPR3:

    Inositol 1,4,5-trisphosphate receptor, type 3
    Hs.65758  [show with all ESTs]
    Unigene Representative Sequence: NM_002224
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374316(uc021ywr.1) ENST00000605930
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ITPR3 (see all 14):
    hsa-miR-323-3p hsa-miR-142-3p hsa-miR-3910 hsa-miR-148b* hsa-miR-520f hsa-miR-628-3p hsa-miR-223 hsa-miR-3168
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ITPR3 (NM_002224)
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      QuantiFast Probe-based Assays in human, mouse, rat ITPR3

    Additional mRNA sequence: 

    AB209739.1 AK093524.1 AK126969.1 AK128213.1 AL832807.1 BC041398.2 BC146646.1 D26351.1 
    U01062.1 XR_171566.1 

    21 DOTS entries:

    DT.317607  DT.91657416  DT.95263643  DT.113101  DT.91650432  DT.121314924  DT.65287376  DT.95250226 
    DT.121314943  DT.121314984  DT.91672426  DT.121314912  DT.317608  DT.100784156  DT.121314959  DT.121314977 
    DT.91662842  DT.91925061  DT.95263638  DT.100784155  DT.95286385 

    Selected AceView cDNA sequences (see all 460):

    CR620699 AL556908 AA504811 CA488925 BE279685 CA487736 AI078084 BG981255 
    BQ722440 AI375551 CF619243 AI874281 BU689005 BU632814 AI669384 BQ014762 
    BU629794 AI446193 CF265148 BF223624 AI702530 AW000845 BG149233 BE397068 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ITPR3 (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b ^
    SP1:        -                                                                                                           -                             -         
    SP2:                                                                                                                                                  -         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23a · 23b ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40a · 40b ^ 41 ^ 42a · 42b ·
    SP1:                                                                                                                                      -           -         
    SP2:                    -     -     -                                                                                                                           
    SP3:                                                                                                                                      -                     
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 42c ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49a · 49b · 49c ^ 50 ^ 51 ^ 52 ^ 53a · 53b · 53c ^ 54a · 54b ^ 55a · 55b · 55c ^ 56 ^ 57a · 57b ^ 58 ^ 59a ·
    SP1:                                                                                -                                         -                 -               
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                    -           -                                                                           
    SP5:                                                                                                                                            -               


    ECgene alternative splicing isoforms for ITPR3

    (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)
    About This Section

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    ITPR3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCGCTTGTT
    ITPR3 Expression
    About this image


    ITPR3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Neural Tube (Nervous System)
             Floor plate-like cells
    ITPR3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITPR3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.65758

    UniProtKB/Swiss-Prot: ITPR3_HUMAN, Q14573
    Tissue specificity: Expressed in intestinal crypt and villus epithelial cells

        Custom PCR Arrays for ITPR3
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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 ITPR3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itpr31 , 5 inositol 1,4,5-triphosphate receptor 31, 5 89.41(n)1
    95.36(a)1
      17 (13.68 cM)5
    164401  NM_080553.31  NP_542120.21 
     270573045 
    chicken
    (Gallus gallus)
    Aves ITPR31 inositol 1,4,5-trisphosphate receptor, type 3 83.53(n)
    90.08(a)
      419910  XM_418035.4  XP_418035.2 
    lizard
    (Anolis carolinensis)
    Reptilia ITPR36
    inositol 1,4,5-trisphosphate receptor, type 3
    88(a)
    1 ↔ 1
    4(123042437-123184648)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.233692 Transcribed sequence with moderate similarity to protein more 77.34(n)    CF550030.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Itp-r83A3 molting cycle (sensu Insecta)
    inositol-1,4,5-triphosphate more
    51(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea itr-13 inositol 1,4,5-triphosphate receptor 36(a)   IV(7675362-7696891)   --


    ENSEMBL Gene Tree for ITPR3 (if available)
    TreeFam Gene Tree for ITPR3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ITPR3 gene
    RYR22  ITPR22  ITPR12  RYR12  RYR32  
    2 SIMAP similar genes for ITPR3 using alignment to 2 protein entries:     ITPR3_HUMAN (see all proteins):
    ITPR2    ITPR1

    ITPR3 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), 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 ITPR3 (see all 2066)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1407041121,2
    Cuntested133572684(+) GGCATC/TGGGCC 2 I syn11Minor allele frequency- T:0.00NA 4548
    rs556946571,2
    C,F--33505340(+) GGAAGG/AGCAGC 1 -- int13Minor allele frequency- A:0.22NA WA 124
    rs122082341,2
    C,F,H--33505539(+) CTTCAA/TGGTCC 1 -- int17Minor allele frequency- T:0.03NS EA NA 514
    rs1496298971,2
    --33505564(+) TTCTCC/TCCGCC 1 -- int10--------
    rs799952431,2
    C--33505591(+) CTGCGC/TCGGTC 1 -- int12Minor allele frequency- T:0.08NA 122
    rs1871120971,2
    --33505739(+) TAGCAA/GGGAGA 1 -- int10--------
    rs47136411,2
    C,A,H--33505821(+) GGGAGT/CGTAGG 1 -- int113Minor allele frequency- C:0.07NA WA CSA EA 375
    rs47136421,2
    C,F,A,H--33506001(+) CTTCTC/TTCTGA 1 -- int1 trp324Minor allele frequency- T:0.08NS EA NA WA CSA 2350
    rs1142317661,2
    F--33506030(+) TGGCAC/TCCTCA 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1930795241,2
    --33506221(+) TGCTCA/GCCTTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for ITPR3 (33588142 - 33664351 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ITPR3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv522906CNV Loss19592680
    nsv5250CNV Loss18451855
    dgv85n68CNV Loss17160897
    nsv885770CNV Loss21882294
    nsv470811CNV Loss18288195
    nsv885771CNV Loss21882294
    nsv885772CNV Loss21882294
    esv8764CNV Gain19470904

    Human Gene Mutation Database (HGMD): ITPR3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITPR3
    DNA2.0 Custom Variant and Variant Library Synthesis for ITPR3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 147267   
    OMIM disorders: 222100  
    Selected diseases for ITPR3 (see all 24):    
    About MalaCards
    early myoclonic encephalopathy    coronary artery aneurysm    type 1 diabetes    peritonitis
    rheumatic disease    kawasaki disease    glioblastoma multiforme    sjogren's syndrome
    graves' disease    huntington's disease    thyroid cancer    systemic lupus erythematosus
    lupus erythematosus    obesity    retinitis    hiv-1
    neuroblastoma    asthma    alzheimer's disease    thyroiditis


    ITPR3 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for ITPR3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    peritoneal cancer 63.2 4 14666665 (1), 14619519 (1)
    malignant ascites 58.5 2 14666665 (1), 14619519 (1)
    primary tumor 6.95 2 14666665 (1), 14619519 (1)
    gastric cancer 6.11 19 14666665 (4), 14619519 (4)

    Genetic Association Database (GAD): ITPR3
    Human Genome Epidemiology (HuGE) Navigator: ITPR3 (15 documents)

    Export disorders for ITPR3 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 ITPR3 gene, integrated from 10 sources (see all 119):
    (articles sorted by number of sources associating them with ITPR3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure, ligand binding, and localization of the human type 3 inositol 1,4,5-trisphosphate receptor expressed in intestinal epithelium. (PubMed id 8288584)1, 2, 3, 9 Maranto A.R. (J. Biol. Chem. 1994)
    2. Cloning and characterization of human type 2 and type 3 inositol 1,4,5-trisphosphate receptors. (PubMed id 8081734)1, 2, 3, 9 Yamamoto-Hino M....Mikoshiba K. (Recept. Channels 1994)
    3. Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden. (PubMed id 16960798)1, 4, 9 Roach J.C.... . (Am. J. Hum. Genet. 2006)
    4. A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population. (PubMed id 18219441)1, 4, 9 Oishi T....Matsuda K. (J. Hum. Genet. 2008)
    5. Identification of independent risk loci for Graves' disease within the MHC in the Japanese population. (PubMed id 21900946)1, 4 Nakabayashi K....Shirasawa S. (J. Hum. Genet. 2011)
    6. 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)
    7. 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)
    8. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PubMed id 19730683)1, 4 Landa I....Robledo M. (PLoS Genet. 2009)
    9. Common body mass index-associated variants confer risk of extreme obesity. (PubMed id 19553259)1, 4 Cotsapas C....Daly M.J. (Hum. Mol. Genet. 2009)
    10. Human Golgi antiapoptotic protein modulates intracellular calcium fluxes. (PubMed id 19553469)1, 2 de Mattia F.... van Kuppeveld F.J. (Mol. Biol. Cell 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 3710 HGNC: 6182 AceView: ITPR3 Ensembl:ENSG00000096433 euGenes: HUgn3710
    ECgene: ITPR3 Kegg: 3710 H-InvDB: ITPR3

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for ITPR3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ITPR3 gene:
    Search GeneIP for patents involving ITPR3

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



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