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ITPKB Gene

protein-coding   GIFtS: 65
GCID: GC01M226820

Inositol-Trisphosphate 3-Kinase B

(Previous name: inositol 1,4,5-trisphosphate 3-kinase B)
Alzheimer's & Parkinson's Diseases Congress
  See related disease
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-Trisphosphate 3-Kinase B1 2     IP3-3KB2
Inositol 1,4,5-Trisphosphate 3-Kinase B1 2 3     IP3K2
InsP 3-Kinase B2 3     IP3K-B2
IP3 3-Kinase B2 3     IP3KB2
IP3K B2 3     PIG372
EC 2.7.1.1273 8     Proliferation-Inducing Protein 372

External Ids:    HGNC: 61791   Entrez Gene: 37072   Ensembl: ENSG000001437727   OMIM: 1475225   UniProtKB: P279873   

Export aliases for ITPKB gene to outside databases

Previous GC identifers: GC01M225348 GC01M222564 GC01M223204 GC01M223794 GC01M223126 GC01M224886 GC01M197336


(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 ITPKB Gene:
The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger
inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for
regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both
calcium/calmodulin and protein phosphorylation mechanisms control its activity. (provided by RefSeq, Jul 2008)

GeneCards Summary for ITPKB Gene:
ITPKB (inositol-trisphosphate 3-kinase B) is a protein-coding gene. Diseases associated with ITPKB include alzheimer's disease. GO annotations related to this gene include inositol-1,4,5-trisphosphate 3-kinase activity and calmodulin binding. An important paralog of this gene is ITPKC.

Gene Wiki entry for ITPKB 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_000001.11  NT_167186.2  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ITPKB gene promoter:
         p53   Pax-5   NF-kappaB   C/EBPalpha   POU2F1   FOXC1   POU2F1a   PPAR-gamma2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITPKB promoter sequence
   Search Chromatin IP Primers for ITPKB

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


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

Entrez Gene cytogenetic band: 1q42.13   Ensembl cytogenetic band:  1q42.12   HGNC cytogenetic band: 1q42.12

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M226820:  view genomic region     (about GC identifiers)

Start:
226,819,391 bp from pter      End:
226,927,024 bp from pter
Size:
107,634 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: IP3KB_HUMAN, P27987 (See protein sequence)
Recommended Name: Inositol-trisphosphate 3-kinase B  
Size: 946 amino acids; 102376 Da
Subunit: Interacts with DMTN
Sequence caution: Sequence=CAA40491.1; Type=Erroneous initiation;
Secondary accessions: Q5VWL9 Q5VWM0 Q96BZ2 Q96JS1 Q9UH47
Alternative splicing: 2 isoforms:  P27987-1   P27987-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ITPKB: NX_P27987

Explore proteomics data for ITPKB at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ITPKB (P27987) (see all 7)
     EGNREDGYL  IDFGKTTPLP  HEVIGSSLLF  VDPEAPTEEE 


    See ITPKB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002212.3  
    ENSEMBL proteins: 
     ENSP00000272117   ENSP00000355748   ENSP00000411152  
    Reactome Protein details: P27987

    ITPKB Human Recombinant Protein Products:

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    Novus Biologicals ITPKB Proteins
    Novus Biologicals ITPKB Lysate
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    Cloud-Clone Corp. Proteins for ITPKB

    ITPKB Antibody Products:

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    ITPKB Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: IP3 kinase B
    Inositol 1,4,5-trisphosphate 3-kinases

    1 InterPro protein domain:
     IPR005522 IPK

    Graphical View of Domain Structure for InterPro Entry P27987

    ProtoNet protein and cluster: P27987

    1 Blocks protein domain: IPB005522 Inositol polyphosphate kinase

    UniProtKB/Swiss-Prot: IP3KB_HUMAN, P27987
    Similarity: Belongs to the inositol phosphokinase (IPK) family


    ITPKB 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: IP3KB_HUMAN, P27987
    Catalytic activity: ATP + 1D-myo-inositol 1,4,5-trisphosphate = ADP + 1D-myo-inositol 1,3,4,5-tetrakisphosphate
    Enzyme regulation: IP3K is activated by calmodulin. Form B is much more sensitive to calcium/calmodulin than form
    A

         Genatlas biochemistry entry for ITPKB:
    inositol 1,4,5-triphosphate 3 kinase-B

         Enzyme Number (IUBMB): EC 2.7.1.1271 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
    GO:0008440inositol-1,4,5-trisphosphate 3-kinase activity IEA--
         
    ITPKB for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Itpkb):
     behavior/neurological  digestive/alimentary  growth/size/body  hematopoietic system  immune system 
     integument  mortality/aging 

    ITPKB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Itpkbtm1Ssch for ITPKB

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target ITPKB:
    hsa-mir-183-5p (MIRT047075), hsa-mir-186-5p (MIRT045004)

    Block miRNA regulation of human, mouse, rat ITPKB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ITPKB (see all 50):
    hsa-miR-106a hsa-miR-486-3p hsa-miR-301a hsa-miR-877* hsa-miR-4314 hsa-miR-124 hsa-miR-93 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidITPKB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ITPKB
    Predesigned siRNA for gene silencing in human, mouse, rat ITPKB

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITPKB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITPKB

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


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    ITPKB 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 ITPKB About    
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.00
    Phosphatidylinositol signaling system0.61
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis0.00
    superpathway of inositol phosphate compounds0.60
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Inositol phosphate metabolism (REACTOME)
    Inositol phosphate metabolism0.59
    Synthesis of IP3 and IP4 in the cytosol0.59
    4Calcium signaling pathway
    Calcium signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for ITPKB
        1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
    superpathway of inositol phosphate compounds

    1 Reactome Pathway for ITPKB
        Synthesis of IP3 and IP4 in the cytosol


    4 Kegg Pathways  (Kegg details for ITPKB):
        Inositol phosphate metabolism
    Metabolic pathways
    Calcium signaling pathway
    Phosphatidylinositol signaling system


    ITPKB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ITPKB: 
              Lymphoma in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ITPKB

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

    Selected Interacting proteins for ITPKB (P279872, 3 ENSP000002721174) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    PSME3P612892, 3, ENSP000002933624MINT-68100 I2D: score=5 STRING: ENSP00000293362
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade IEA--
    GO:0007165signal transduction TAS1654894
    GO:0007166cell surface receptor signaling pathway IEA--
    GO:0030217T cell differentiation ----
    GO:0043647inositol phosphate metabolic process TAS--

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

    Browse Tocris compounds for ITPKB (IP3KB)

    5 HMDB Compounds for ITPKB    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CalciumCa (see all 2)7440-70-2--
    Inositol 1,3,4,5-tetraphosphate1,3,4,5-tetrakis(dihydrogen phosphate) myo-Inositol (see all 16)102850-29-3--
    Inositol 1,4,5-trisphosphate1D-myo-Inositol 1,4,5-trisphosphate (see all 4)88269-39-0--

    3 Novoseek inferred chemical compound relationships for ITPKB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inositol 1,3,4,5-tetrakisphosphate 84 1 19918943 (1)
    inositol 1,4,5 trisphosphate 81.3 15 9182721 (2), 16173920 (2), 9038348 (2), 8018850 (1) (see all 8)
    calcium 37.4 15 9182721 (3), 9038348 (3), 16500959 (1), 15101685 (1) (see all 6)



    ITPKB 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,
    Conferences by KenesGroup, 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 ITPKB gene: 
    NM_002221.3  

    Unigene Clusters for ITPKB:

    Inositol-trisphosphate 3-kinase B
    Hs.528087  [show with all ESTs], Hs.659396  [show with all ESTs]
    Unigene Representative Sequences: NM_002221, BX537724
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000272117 ENST00000366784(uc001hqh.3) ENST00000429204(uc010pvo.2)


    miRNA
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    Block miRNA regulation of human, mouse, rat ITPKB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ITPKB (see all 50):
    hsa-miR-106a hsa-miR-486-3p hsa-miR-301a hsa-miR-877* hsa-miR-4314 hsa-miR-124 hsa-miR-93 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidITPKB 3' UTR sequence
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITPKB
    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat ITPKB

    Additional mRNA sequence: BX537724.1 

    8 DOTS entries:

    DT.315662  DT.412641  DT.75129418  DT.100769888  DT.40197440  DT.75199612  DT.92427379  DT.40125638 

    Selected AceView cDNA sequences (see all 178):

    CA396296 BU845085 BX107323 CD651992 BU157153 F04836 BQ277624 BQ059797 
    BM680917 BQ184263 AI160409 BQ878513 CD244900 BU166486 BU684647 AA746402 
    AI500239 BQ057446 BM980409 CA396580 F02270 BX091567 NM_002221 BU931592 

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


    ITPKB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
     
     Eye (Sensory Organs)
             Retina
     
     Liver (Hepatobiliary System)
     
     Tonsil (Hematopoietic System)
    ITPKB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITPKB Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.528087 Hs.659396
        Pathway & Disease-focused RT2 Profiler PCR Array including ITPKB: 
              Lymphoma in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPKB

    (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 ITPKB gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itpkb1 , 5 inositol 1,4,5-trisphosphate 3-kinase B1, 5 81.67(n)1
    77.87(a)1
      1 (84.27 cM)5
    3204041  NM_001081175.11  NP_001074644.11 
     1803304855 
    chicken
    (Gallus gallus)
    Aves ITPKB1 inositol-trisphosphate 3-kinase B 78.15(n)
    79.72(a)
      416743  XM_415039.3  XP_415039.2 
    lizard
    (Anolis carolinensis)
    Reptilia ITPKB6
    inositol-trisphosphate 3-kinase B
    77(a)
    1 ↔ 1
    1(251140767-251222496)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.138652 Xenopus laevis transcribed sequence with weak similarity more 76.24(n)    BJ064068.1 
    zebrafish
    (Danio rerio)
    Actinopterygii itpkb1 inositol-trisphosphate 3-kinase B 66.67(n)
    69.69(a)
      563019  XM_686383.5  XP_691475.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta IP3K21 , 3 1D-myo-inositol-trisphosphate 3-kinase3
    Inositol 1,4,5-triphosphate kinase 21
    61(a)
    (best of 2)3
    62.73(n)1
    57.45(a)1
      11E113
    322851  NM_001103499.11  NP_001096969.11 
    worm
    (Caenorhabditis elegans)
    Secernentea lfe-23 Expression: alimentary system,
    intestine, pharynx, more
    43(a)   I(5027212-5040766)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ITPKB gene
    ITPKC2  ITPKA2  
    3 SIMAP similar genes for ITPKB using alignment to 1 protein entry:     IP3KB_HUMAN:
    PIG37    ITPKA    ITPKC

    ITPKB 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 ITPKB (see all 1768)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1831099821,2
    --226818917(+) AGGAGA/GACGAC 1 -- ds50010--------
    rs1422292141,2
    --226818980(+) TTAGGC/TCAAGT 1 -- ds50010--------
    rs11448411,2
    C,F,O,A,H--226819073(+) ACTCCA/GATGGG 1 -- ds500138Minor allele frequency- C:0.01NS EA NA WA CSA 3212
    rs1118127381,2
    F--226819120(+) AGAAGT/CGATCG 1 -- ds50011Minor allele frequency- C:0.00CSA 1
    rs121293141,2
    C,F,H--226819139(+) GAGACC/TCCCCT 1 -- ds50014Minor allele frequency- T:0.00NS EA 420
    rs771153361,2
    C,F--226819146(+) CCCTAC/TTTGGG 1 -- ds50011Minor allele frequency- T:0.10WA 118
    rs1512085841,2
    --226819237(+) GAGTGA/GTTTAT 1 -- ds50010--------
    rs1914243811,2
    --226819284(+) CCACTC/TCCCTA 1 -- ds50010--------
    rs1824101491,2
    --226819342(+) CCCTCA/GGCCAG 1 -- ds50010--------
    rs1878402651,2
    --226819362(+) CTGGGA/GGCCAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ITPKB (226819391 - 226927024 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ITPKB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv992736CNV Deletion20482838
    nsv4755CNV Insertion18451855
    nsv516277CNV Loss19592680
    nsv522446CNV Loss19592680
    nsv523759CNV Loss19592680
    nsv873235CNV Loss21882294
    nsv873234CNV Loss21882294
    nsv470779CNV Loss18288195

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

    (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.)
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    OMIM gene information: 147522    OMIM disorders: --

    1 disease for ITPKB:    
    About MalaCards
    alzheimer's disease


    ITPKB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): ITPKB
    Human Genome Epidemiology (HuGE) Navigator: ITPKB (4 documents)

    Export disorders for ITPKB 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 ITPKB gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with ITPKB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of a new putative inositol 1,4,5- trisphosphate 3-kinase isoenzyme. (PubMed id 1654894)1, 2, 3 Takazawa K.... Erneux C. (Biochem. J. 1991)
    2. Cloning and expression of a full-length cDNA encoding human inositol 1,4,5-trisphosphate 3-kinase B. (PubMed id 11846419)1, 2, 9 Dewaste V.... Erneux C. (Biochem. Biophys. Res. Commun. 2002)
    3. 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)
    4. 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)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Localization of the genes for human inositol 1,4,5-trisphosphate 3-kinase A (ITPKA) and B (ITPKB) to chromosome regions 15q14-q21 and 1q41-q43, respectively, by in situ hybridization. (PubMed id 1330886)1, 3 Erneux C....Mattei M.G. (Genomics 1992)
    8. Subcellular localisation of human inositol 1,4,5-trisphosphate 3-kinase C: species-specific use of alternative export sites for nucleo-cytoplasmic shuttling indicates divergent roles of the catalytic and N-terminal domains. (PubMed id 16740130)1, 9 Nalaskowski M.M....Mayr G.W. (Biol. Chem. 2006)
    9. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    10. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (PLoS Genet. 2012)

    (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: 3707 HGNC: 6179 AceView: ITPKB Ensembl:ENSG00000143772 euGenes: HUgn3707
    ECgene: ITPKB Kegg: 3707 H-InvDB: ITPKB

    (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 ITPKB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ITPKB Genetics and Cytogenetics in Oncology and Haematology

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

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



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