Property Summary

NCBI Gene PubMed Count 23
Grant Count 5
R01 Count 5
Funding $1,114,465
PubMed Score 21.03
PubTator Score 32.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
psoriasis 1.600 0.000
atypical teratoid / rhabdoid tumor 1.500 0.000
glioblastoma 1.100 0.000
lung cancer -2.800 0.000
pilocytic astrocytoma 1.300 0.000
primary Sjogren syndrome -1.100 0.016
lung carcinoma -1.500 0.000
spina bifida -1.894 0.040
ovarian cancer 1.100 0.000

Synonym

Accession Q96DU7 Q9UE25 Q9Y475
Symbols IP3KC
IP3-3KC

Gene

PANTHER Protein Class (2)

PDB

2A98  

 GWAS Trait (1)

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.
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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.
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