Property Summary

NCBI Gene PubMed Count 23
PubMed Score 21.03
PubTator Score 32.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Kawasaki disease 24 6.068 3.0
Disease Target Count Z-score Confidence
Vasculitis 64 4.452 2.2
Disease Target Count
Coronary aneurysm 4

Expression

  Differential Expression (9)

Disease log2 FC p
psoriasis 1.600 3.6e-04
atypical teratoid / rhabdoid tumor 1.500 1.3e-05
glioblastoma 1.100 4.2e-04
lung cancer -2.800 8.6e-06
pilocytic astrocytoma 1.300 2.0e-05
primary Sjogren syndrome -1.100 1.6e-02
lung carcinoma -1.500 2.7e-07
spina bifida -1.894 4.0e-02
ovarian cancer 1.100 3.5e-08

 GWAS Trait (1)

Protein-protein Interaction (10)

Gene RIF (19)

PMID Text
24903211 ITPKC polymorphisms are associated with Kawasaki disease.
24800221 Our results identify a novel polymorphism for renal function and highlight the importance of ITPKC as a key molecule to regulate calcium signaling.
24621571 SNP rs7251246 in ITPKC is associated with the severity of Kawasaki disease
23894522 a combinatorial association between ITPKC (rs28493229) and CASP3 (rs113420705) was found in coronary artery lesion formation (P = 0.0227, OR: 3.06)in Taiwanese population
23747857 functional studies demonstrated that PPP3CC positively influences the protein level of ITPKC, likely by inhibiting phosphorylation of ITPKC and consequently preventing ITPKC from ubiquitin-mediated protein degradation
23065250 the functional polymorphism rs28493229 in ITPKC significantly contributes to the risk of Kawasaki disease.
22610085 It was found the G/G genotype and G allele of the inositol 1,4,5-trisphosphate 3-kinase rs28493229 polymorphism may contribute to the risk of cervical squamous cell carcinoma in Taiwanese women.
22498790 ITPKC susceptibility in Kawasaki syndrome is related to its synergy with environmental triggers, such as thimerosal, which alter calcium homeostasis and promote oxidative stress.
22361738 The C allele of the ITPKC gene rs2290692 is linked to a significantly higher risk for KD in the Han Chinese population studied.
22161096 The study failed to prove any association between SNP rs28493229 of ITPKC gene and Kawasaki disease/coronary artery lesions in Chinese patients.
21987091 Functional single-nucleotide polymorphisms in ITPKC and CASP3 are associated with susceptibility to Kawasaki's disease (KD).
21533171 results indicated that C-allele of ITPKC SNP rs28493229 is associated with the susceptibility and aneurysm formation in KD patients in a Taiwanese population
20805785 Single nucleotide polymorphism rs28493229 in ITPKC contributes to Kawasaki disease susceptibility through induced hyperimmune function reflected in the BCG reactivation.
20805785 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20045869 A statistically significant association was not found between the ITPKC gene single-nucleotide polymorphism rs28493229 and Kawasaki disease or coronary artery lesions in Taiwanese children.
20045869 Observational study of gene-disease association. (HuGE Navigator)
18084290 ITPKC acts as a negative regulator of T-cell activation through the Ca2+/NFAT signaling pathway, and the C allele may contribute to immune hyper-reactivity in Kawasaki disease.
12747803 results highlight the potential role of the three isoforms of InsP3 3-kinase as direct InsP3 metabolizing enzymes and direct regulators of Ca2+ responses to extracellular signals

AA Sequence

MRRCPCRGSLNEAEAGALPAAARMGLEAPRGGRRRQPGQQRPGPGAGAPAGRPEGGGPWARTEGSSLHSE      1 - 70
PERAGLGPAPGTESPQAEFWTDGQTEPAAAGLGVETERPKQKTEPDRSSLRTHLEWSWSELETTCLWTET     71 - 140
GTDGLWTDPHRSDLQFQPEEASPWTQPGVHGPWTELETHGSQTQPERVKSWADNLWTHQNSSSLQTHPEG    141 - 210
ACPSKEPSADGSWKELYTDGSRTQQDIEGPWTEPYTDGSQKKQDTEAARKQPGTGGFQIQQDTDGSWTQP    211 - 280
STDGSQTAPGTDCLLGEPEDGPLEEPEPGELLTHLYSHLKCSPLCPVPRLIITPETPEPEAQPVGPPSRV    281 - 350
EGGSGGFSSASSFDESEDDVVAGGGGASDPEDRSGSKPWKKLKTVLKYSPFVVSFRKHYPWVQLSGHAGN    351 - 420
FQAGEDGRILKRFCQCEQRSLEQLMKDPLRPFVPAYYGMVLQDGQTFNQMEDLLADFEGPSIMDCKMGSR    421 - 490
TYLEEELVKARERPRPRKDMYEKMVAVDPGAPTPEEHAQGAVTKPRYMQWRETMSSTSTLGFRIEGIKKA    491 - 560
DGTCNTNFKKTQALEQVTKVLEDFVDGDHVILQKYVACLEELREALEISPFFKTHEVVGSSLLFVHDHTG    561 - 630
LAKVWMIDFGKTVALPDHQTLSHRLPWAEGNREDGYLWGLDNMICLLQGLAQS                     631 - 683
//

Text Mined References (26)

PMID Year Title
24903211 2014 The roles of Ca2+/NFAT signaling genes in Kawasaki disease: single- and multiple-risk genetic variants.
24800221 2014 Study of the association between ITPKC genetic polymorphisms and calcium nephrolithiasis.
24621571 2014 Single-nucleotide polymorphism rs7251246 in ITPKC is associated with susceptibility and coronary artery lesions in Kawasaki disease.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23894522 2013 A replication study for association of ITPKC and CASP3 two-locus analysis in IVIG unresponsiveness and coronary artery lesion in Kawasaki disease.
23747857 2013 PPP3CC feedback regulates IP3-Ca2+ pathway through preventing ITPKC degradation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23065250 2012 A functional polymorphism, rs28493229, in ITPKC and risk of Kawasaki disease: an integrated meta-analysis.
22610085 2012 Genetic polymorphisms in the ITPKC gene and cervical squamous cell carcinoma risk.
22498790 2012 ITPKC susceptibility in Kawasaki syndrome as a sensitizing factor for autoimmunity and coronary arterial wall relaxation induced by thimerosal's effects on calcium signaling via IP3.
22361738 2012 Single-nucleotide polymorphism rs2290692 in the 3'UTR of ITPKC associated with susceptibility to Kawasaki disease in a Han Chinese population.
22161096 2011 [Association study of a functional SNP rs28493229 of ITPKC gene and Kawasaki disease in a Chinese population].
22081228 2011 Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
21987091 2013 ITPKC and CASP3 polymorphisms and risks for IVIG unresponsiveness and coronary artery lesion formation in Kawasaki disease.
21533171 2011 ITPKC single nucleotide polymorphism associated with the Kawasaki disease in a Taiwanese population.
20805785 2011 Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20045869 2010 ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children.
18157129 2008 Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
18084290 2008 ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.
16740130 2006 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.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12747803 2003 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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11085927 2000 Cloning and expression of a cDNA encoding human inositol 1,4,5-trisphosphate 3-kinase C.