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(from RefSeq NM_025194) RefSeq Summary (NM_025194): 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. Phenotype data for mouse gene Itpkc. Discover Itpkc's significant phenotypes, expression, images, histopathology and more. Data for gene Itpkc is all freely available for download. We previously identified 2 susceptibility genes for KD, inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) on 19q13.2 and caspase-3 (CASP3) on 4q34-35 through a genome-wide sib-pair study, followed Inositol 1,4,5-trisphosphate (IP3) 3-kinase C (ITPKC) is a negative regulator of the SOC channel-mediated signaling pathway. We investigated the association between calcium containing nephrolithiasis and genetic variants of ITPKC gene in Taiwanese patients. 365 patients were recruited in this study.
Summary of ITPKC (IP3-3KC, IP3KC) expression in human tissue. General cytoplasmic and nuclear expression. Description: Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA. (from RefSeq NM_025194) RefSeq Summary (NM_025194): 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 ITPKC gene was expressed in the mammary gland, but its expression was highest in breast cancer cells among other stromal cells in a bulk tumor.
Smarca4 Gene Reviews
It is the leading cause of acquired heart disease in children due to the frequent occurrence of coronary artery lesions (CALs). Recently, a C allele of rs28493229 (G/C) in inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene was found to significantly increase the risk for KD/CALs in Japanese population. ITPKC has 3,901 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 80 datasets.
Gene Stat Angle Cell Pvalue Qvalue A1BG 1.07177295114858
Since that time, only 100 patients have been diagnosed worldwide, and only four
20 Feb 2019 You'll see gene level information, variant level information, evidence and databases, and then drug and guideline itself.
(2011) as the second locus implicated in KD, was initially identified by linkage disequilibrium mapping in both Japanese and US children (Onouchi et al., 2008).
The siRNA interferes with the expression of ITPKC gene with complementary nucleotide sequences by degrading mRNA after transcription, preventing translation. Gene-gene interactions have been linked to a number of important diseases, such as diabetes and essential hypertension.
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Legend A B C D 1 Abbreviations and color coding for Supplemental
2019-12-07 · [PMID 18084290] ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.
Casp3-gen-enkel-nukleotidpolymorfism rs72689236 och
Summary of ITPKC expression in human tissue.
Inositol 1,4,5-trisphosphate 3-kinase (ITPK) catalyzes the phosphorylation of Ins (1,4,5)P3 to Ins (1,3,4,5)P4, both of which are modulators of calcium homeostasis. We previously identified 2 susceptibility genes for KD, inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) on 19q13.2 and caspase-3 (CASP3) on 4q34-35 through a genome-wide sib-pair study, followed by The ITPKC gene provides instructions for making an enzyme called inositol 1,4,5-trisphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells . T cells identify foreign substances and defend the body against infection. ITPKC, reported by Khor et al.