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

ITPKC Gene

protein-coding   GIFtS: 64
GCID: GC19P041223

Inositol-Trisphosphate 3-Kinase C

(Previous name: inositol 1,4,5-trisphosphate 3-kinase C)
  See related diseases
at  

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

Aliases
Inositol-Trisphosphate 3-Kinase C1 2     IP3K C2 3
Inositol 1,4,5-Trisphosphate 3-Kinase C1 2 3     EC 2.7.1.1273 8
InsP 3-Kinase C2 3     IP3-3KC2
IP3KC2 3     InsP 3 Kinase C2
IP3 3-Kinase C2 3     

External Ids:    HGNC: 148971   Entrez Gene: 802712   Ensembl: ENSG000000865447   OMIM: 6064765   UniProtKB: Q96DU73   

Export aliases for ITPKC gene to outside databases

Previous GC identifers: GC19P041862 GC19P041614 GC19P045899 GC19P045914 GC19P037656


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

Entrez Gene summary for ITPKC Gene:
This gene encodes a member of the inositol 1,4,5-trisphosphate (Ins(1,4,5)P(3)) 3-kinase family of enzymes that
catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is
localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide
polymorphisms in this gene are associated with Kawasaki disease.(provided by RefSeq, Sep 2009)

GeneCards Summary for ITPKC Gene: 
ITPKC (inositol-trisphosphate 3-kinase C) is a protein-coding gene. Diseases associated with ITPKC include kawasaki disease, and coronary artery aneurysm, and among its related super-pathways are Phosphatidylinositol signaling system and Metabolic pathways. 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 ITPKB.

UniProtKB/Swiss-Prot: IP3KC_HUMAN, Q96DU7
Function: Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ITPKC gene promoter:
         SRF   COUP-TF1   NF-1   Lmo2   COUP   HNF-4alpha2   HNF-4alpha1   COUP-TF   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITPKC promoter sequence
   Search SABiosciences Chromatin IP Primers for ITPKC

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


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P041223:  view genomic region     (about GC identifiers)

Start:
41,223,008 bp from pter      End:
41,246,765 bp from pter
Size:
23,758 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: IP3KC_HUMAN, Q96DU7 (See protein sequence)
Recommended Name: Inositol-trisphosphate 3-kinase C  
Size: 683 amino acids; 75207 Da
Subcellular location: Nucleus. Cytoplasm. Note=Shuttles actively between nucleus and cytoplasm with both nuclear
import and nuclear export activity
1 PDB 3D structure from and Proteopedia for ITPKC:
2A98 (3D)    
Secondary accessions: Q9UE25 Q9Y475

Explore the universe of human proteins at neXtProt for ITPKC: NX_Q96DU7

Explore proteomics data for ITPKC at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96DU7

  • 3 DME Specific Peptides for ITPKC (Q96DU7)
     EGNREDGYL  TLGFRIEGIKK  AKVWMIDFGKT 

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

    ITPKC Protein Expression
    REFSEQ proteins: NP_079470.1  
    ENSEMBL proteins: 
     ENSP00000263370   ENSP00000472655  
    Reactome Protein details: Q96DU7
    Human Recombinant Protein Products for ITPKC: 
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    OriGene Protein Over-expression Lysate for ITPKC
    OriGene Custom MassSpec 
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    Novus Biologicals ITPKC Proteins
    Novus Biologicals ITPKC Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ITPKC 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--

    ITPKC for ontologies           About GeneDecksing



    ITPKC Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for ITPKC 

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    Cloud-Clone Corp. ELISAs for ITPKC 
    Cloud-Clone Corp. CLIAs for ITPKC


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

    1 InterPro protein domain:
     IPR005522 IPK

    Graphical View of Domain Structure for InterPro Entry Q96DU7

    ProtoNet protein and cluster: Q96DU7

    1 Blocks protein domain: IPB005522 Inositol polyphosphate kinase

    UniProtKB/Swiss-Prot: IP3KC_HUMAN, Q96DU7
    Similarity: Belongs to the inositol phosphokinase (IPK) family


    ITPKC for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IP3KC_HUMAN, Q96DU7
    Function: Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate (By similarity)
    Catalytic activity: ATP + 1D-myo-inositol 1,4,5-trisphosphate = ADP + 1D-myo-inositol 1,3,4,5-tetrakisphosphate
    Enzyme regulation: Activated by calcium/calmodulin. Inhibited by high concentrations of the substrate
    Ins(1,2,4)P3, and allosterically activated by the product Ins(1,3,4,5)P4

         Genatlas biochemistry entry for ITPKC:
    inositol,1,4,5-triphosphate 3 kinase-C

         Enzyme Number (IUBMB): EC 2.7.1.1271 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
    GO:0008440inositol-1,4,5-trisphosphate 3-kinase activity IEA--
    GO:0016301kinase activity ----
         
    ITPKC for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ITPKC:
     Paclitaxel antagonistic effect 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Itpkc):
     cellular  hematopoietic system  immune system  normal 

    ITPKC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Itpkctm1Ssch for ITPKC

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ITPKC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ITPKC

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

    miRNA
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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate ITPKC (see all 15):
    hsa-miR-222* hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-7 hsa-miR-512-3p hsa-miR-1205 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidITPKC 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPKC


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

    SuperPaths for ITPKC About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism
    Inositol phosphate metabolism0.61
    superpathway of inositol phosphate compounds0.60
    Phosphatidylinositol signaling system0.61
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis0.76
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.75
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.76
    4Synthesis of IP3 and IP4 in the cytosol
    Synthesis of IP3 and IP4 in the cytosol0.57
    Inositol phosphate metabolism0.57
    5Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for ITPKC
        Integrated Breast Cancer Pathway
    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

    3        Reactome Pathways for ITPKC
        Metabolism
    Inositol phosphate metabolism
    Synthesis of IP3 and IP4 in the cytosol


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


    ITPKC for pathways           About GeneDecksing

    Interactions:

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

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

    5/26 Interacting proteins for ITPKC (Q96DU73 ENSP000002633704) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL16Q140053, ENSP000003029354I2D: score=1 STRING: ENSP00000302935
    INPP5AENSP000003575834STRING: ENSP00000357583
    INPP5DENSP000003525754STRING: ENSP00000352575
    INPP5KENSP000002547124STRING: ENSP00000254712
    INPPL1ENSP000002982294STRING: ENSP00000298229
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043647inositol phosphate metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    ITPKC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ITPKC:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ITPKC (IP3KC)

    1 HMDB Compound for ITPKC    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about ITPKC / IP3KC

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ITPKC gene: 
    NM_025194.2  

    Unigene Cluster for ITPKC:

    Inositol-trisphosphate 3-kinase C
    Hs.515415  [show with all ESTs]
    Unigene Representative Sequence: BC060788
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263370(uc002oot.3) ENST00000597003
    miRNA
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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate ITPKC (see all 15):
    hsa-miR-222* hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-7 hsa-miR-512-3p hsa-miR-1205 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidITPKC 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITPKC

    Additional mRNA sequence: 

    AJ290975.1 AK024596.1 BC026903.1 BC060788.1 D38169.1 Y11999.1 

    8 DOTS entries:

    DT.113294  DT.101981800  DT.100027507  DT.91741016  DT.102842819  DT.91708655  DT.91859410  DT.91929800 

    24/147 AceView cDNA sequences (see all 147):

    BU541007 BU174652 BC060788 AI276629 CA440554 BM672379 BQ647009 BM068742 
    BQ685920 AI906000 CA454772 AL044962 AJ290975 CD632522 BM702344 BU163451 
    BU684434 NM_025194 BX477633 CD632520 CO395285 Y11999 BM710408 AA653248 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ITPKC    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b
    SP1:                                                      
    SP2:                          -                           


    ECgene alternative splicing isoforms for ITPKC

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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.515415

    UniProtKB/Swiss-Prot: IP3KC_HUMAN, Q96DU7
    Tissue specificity: Highly expressed in pancreas, skeletal muscle, liver, placenta and weakly in kidney and brain

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITPKC
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPKC

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

    This gene was present in the common ancestor of animals.

    Orthologs for ITPKC gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itpkc1 , 5 inositol 1,4,5-trisphosphate 3-kinase C1, 5 81.65(n)1
    77.08(a)1
      7 (15.85 cM)5
    2330111  NM_181593.21  NP_853624.11 
     272071725 
    lizard
    (Anolis carolinensis)
    Reptilia ITPKC6
    --
    Uncharacterized protein
    66(a)
    51(a)
    1 ↔ 1
    possible ortholog
    LGf(2758272-2774244)
    GL345126.1(1509-8192)
    zebrafish
    (Danio rerio)
    Actinopterygii itpkca1 inositol 1,4,5-trisphosphate 3-kinase Ca 64.24(n)
    62.01(a)
      562919  XM_681366.5  XP_686458.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta IP3K23 1D-myo-inositol-trisphosphate 3-kinase 53(a)
    (best of 2)
      11E11   --
    worm
    (Caenorhabditis elegans)
    Secernentea lfe-23 Expression: alimentary system,
    intestine, pharynx, more
    44(a)   I(5027212-5040766)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ITPKC gene
    ITPKB2  ITPKA2  
    3 SIMAP similar genes for ITPKC using alignment to 2 protein entries:     IP3KC_HUMAN (see all proteins):
    ITPKA    PIG37    ITPKB

    ITPKC for paralogs           About GeneDecksing



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

    10/544 SNPs in ITPKC are shown (see all 544)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs7556351,2
    C,F,A--37664238(+) aaaaaA/GaaGAT 1 -- int1 trp35Minor allele frequency- G:0.44NA WA CSA 9
    rs672148861,2
    C--37664238(+) AAAAA-/A/GAAGAT 1 -- int11CSA 2
    rs2011122711,2
    --37674050(+) TTGTT-/GTTTTT 1 -- int10--------
    rs339782931,2
    C,F--37676098(+) CAGAA-/T/TT  
            
    TTTTT
    1 -- int12NA CSA 4
    rs106648071,2
    C--37676112(+) ttttt-/T/T   
       T
    /TTA
    aaata
    2 -- int1 cds10--------
    rs72576021,2
    C,F,A,H--41224898(+) GAATCA/GGGAGG 1 -- int121Minor allele frequency- G:0.40NS EA NA WA 2348
    rs1479347951,2
    --41224967(+) AGCCTC/TACGTG 1 -- int10--------
    rs58280771,2
    C--41225273(+) GGGTG-/AATAATAA 1 -- int10--------
    rs770274091,2
    --41225296(+) AATAAC/TAATAA 1 -- int10--------
    rs14694271,2
    C,F,A,H--41225299(+) aataaT/Caacaa 1 -- int16Minor allele frequency- C:0.36NA WA CSA EA 363

    HapMap Linkage Disequilibrium report for ITPKC (41223008 - 41246765 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ITPKC: --

    Human Gene Mutation Database (HGMD): ITPKC
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ITPKC
    DNA2.0 Custom Variant and Variant Library Synthesis for ITPKC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606476   
    OMIM disorders: 611775  
    UniProtKB/Swiss-Prot: IP3KC_HUMAN, Q96DU7
  • Kawasaki disease (KWD) [MIM:611775]: An acute, self-limited vasculitis of infants and children
    characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral
    mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical
    lymphadenopathy. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for ITPKC:    About MalaCards
    kawasaki disease    coronary artery aneurysm    cutis laxa    vasculitis
    cervicitis    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for ITPKC:
    Kawasaki disease     Vasculitis

    ITPKC for disorders           About GeneDecksing

    Genetic Association Database (GAD): ITPKC
    Human Genome Epidemiology (HuGE) Navigator: ITPKC (3 documents)

    Export disorders for ITPKC gene to outside databases

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

    PubMed articles for ITPKC gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with ITPKC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of a cDNA encoding human inositol 1,4,5- trisphosphate 3-kinase C. (PubMed id 11085927)1, 2, 3, 9 Dewaste V.... Erneux C. (2000)
    2. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. (PubMed id 22081228)1, 4 Khor C.C.... . (2011)
    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. (2010)
    4. ITPKC gene SNP rs28493229 and Kawasaki disease in Tai wanese children. (PubMed id 20045869)1, 4 Chi H....Lee Y.J. (2010)
    5. 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. (2004)
    6. The three isoenzymes of human inositol-1,4,5-trisphosphate 3-kinase show specific intracellular localization but comparable Ca2+ responses on transfection in COS-7 cells. (PubMed id 12747803)1, 2 Dewaste V.... Erneux C. (2003)
    7. ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. (PubMed id 18084290)1, 9 Onouchi Y....Hata A. (2008)
    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. (2006)
    9. A functional polymorphism, rs28493229, in ITPKC and ri sk of Kawasaki disease: an integrated meta-analysis. (PubMed id 23065250)1 Lou J....Wu J. (2012)
    10. ITPKC susceptibility in Kawasaki syndrome as a sensiti zing factor for autoimmunity and coronary arterial wall relaxation induced by th imerosal's effects on calcium signaling via IP3. (PubMed id 22498790)1 Yeter D. and Deth R. (2012)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80271 HGNC: 14897 AceView: ITPKC Ensembl:ENSG00000086544 euGenes: HUgn80271
    ECgene: ITPKC Kegg: 80271 H-InvDB: ITPKC

    (According to HUGE)
    About This Section
      --

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

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

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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