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ITPKC Gene

protein-coding   GIFtS: 64
GCID: GC19P041223

Inositol-Trisphosphate 3-Kinase C

(Previous name: inositol 1,4,5-trisphosphate 3-kinase C)
  See ITPKC-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-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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for ITPKC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IP3KC_HUMAN, Q96DU7 (See protein sequence)
Recommended Name: Inositol-trisphosphate 3-kinase C  
Size: 683 amino acids; 75207 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ITPKC (Q96DU7)
     EGNREDGYL  TLGFRIEGIKK  AKVWMIDFGKT 


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

    REFSEQ proteins: NP_079470.1  
    ENSEMBL proteins: 
     ENSP00000263370   ENSP00000472655  
    Reactome Protein details: Q96DU7

    ITPKC Human Recombinant Protein Products:

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    Novus Biologicals ITPKC Proteins
    Novus Biologicals ITPKC Lysates
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    Cloud-Clone Corp. Proteins for ITPKC

     
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    antibodies-online proteins for ITPKC (6 products) 

     
    antibodies-online peptides for ITPKC

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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 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


    Find genes that share domains with ITPKC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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:    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 ----
         
    Find genes that share ontologies with ITPKC           About GenesLikeMe


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

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

    Find genes that share phenotypes with ITPKC           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Itpkctm1Ssch for ITPKC

       genOway: Develop your customized and physiologically relevant rodent model for ITPKC

    miRNA
    Products:
        
    miRTarBase miRNAs that target ITPKC:
    hsa-mir-23a-3p (MIRT050413)

    Block miRNA regulation of human, mouse, rat ITPKC using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat ITPKC

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    Addgene plasmids for ITPKC 

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    (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
    IP3KC_HUMAN, Q96DU7: Nucleus. Cytoplasm. Note=Shuttles actively between nucleus and cytoplasm with both nuclear
    import and nuclear export activity
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with ITPKC           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ITPKC 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
    4Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway
    5Calcium signaling pathway
    Calcium signaling pathway


    Find genes that share SuperPaths with ITPKC           About GenesLikeMe

    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

    1 Reactome Pathway for ITPKC
        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

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

        Search GeneGlobe Interaction Network for ITPKC

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

    Selected 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
    INPP5BENSP000003621154STRING: ENSP00000362115
    INPP5DENSP000003525754STRING: ENSP00000352575
    INPP5JENSP000003845344STRING: ENSP00000384534
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

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

    Find genes that share ontologies with ITPKC           About GenesLikeMe



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

    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--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for 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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    Selected qRT-PCR 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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      QuantiTect SYBR Green Assays in human, mouse, rat ITPKC
      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 

    Selected AceView cDNA sequences (see all 147):

    BM068742 BQ956895 AL044962 BF342350 BU541007 BQ647009 AJ290975 Y11999 
    BC026903 BQ685920 CD632522 CA440554 BM702344 NM_025194 AA653248 CD632520 
    AI276629 BM126474 CO395285 BC060788 BU174652 BM710408 BU163451 AI906000 

    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™, 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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    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

    ITPKC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITPKC Protein Expression

    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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    In Situ
    Assay Products:
     

     
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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 ITPKC gene from Selected species (see all 14)    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 81.55(n)1
    77.08(a)1
      7 (15.85 cM)5
    2330111  NM_181593.21  NP_853624.11 
     272071725 
    lizard
    (Anolis carolinensis)
    Reptilia ITPKC6
    inositol-trisphosphate 3-kinase C
    67(a)
    1 ↔ 1
    LGf(2758272-2774244)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia itpkc1 inositol-trisphosphate 3-kinase C 64.53(n)
    67.13(a)
      779709  NM_001078788.1  NP_001072256.1 
    zebrafish
    (Danio rerio)
    Actinopterygii itpkca6
    itpkcb6
    inositol 1,4,5-trisphosphate 3-kinase Cb
    51(a)
    38(a)
    many → 1
    many → 1
    21(20107034-20126870) ENSDARG00000002994
    18(33773645-33804790) ENSDARG00000067741
    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)
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    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

    Find genes that share paralogs with ITPKC           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ITPKC (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 2 diseases for ITPKC:    
    About MalaCards
    kawasaki disease    coronary artery aneurysm

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

    Find genes that share disorders with ITPKC           About GenesLikeMe

    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

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    PubMed articles for ITPKC gene, integrated from 10 sources (see all 22):
    (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. (Biochem. J. 2000)
    2. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. (PubMed id 22081228)1, 4 Khor C.C.... . (Nat. Genet. 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. (Mol. Med. 2010)
    4. ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children. (PubMed id 20045869)1, 4 Chi H....Lee Y.J. (Hum. Mol. Genet. 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. (Genome Res. 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. (Biochem. J. 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. (Nat. Genet. 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. (Biol. Chem. 2006)
    9. PPP3CC feedback regulates IP3-Ca2+ pathway through preventing ITPKC degradation. (PubMed id 23747857)1 Li P....Huo K. (Front Biosci (Landmark Ed) 2013)
    10. ITPKC and CASP3 polymorphisms and risks for IVIG unresponsiveness and coronary artery lesion formation in Kawasaki disease. (PubMed id 21987091)1 Onouchi Y....Hata A. (Pharmacogenomics J. 2013)

    (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: 80271 HGNC: 14897 AceView: ITPKC Ensembl:ENSG00000086544 euGenes: HUgn80271
    ECgene: ITPKC Kegg: 80271 H-InvDB: ITPKC

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