21 Mar 2020 Pointers that suggest a genetic basis of KD include a high disease prevalence Onouchi et al. found ITPKC as the potential candidate gene for 

5461

Names & Symbols · PharmGKB ID · HGNC Approved Name · Alternate Names · Alternate Symbols.

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. 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. ITPKC gene expression among cells in the tumor microenvironment.

  1. Philander rodman
  2. Märkas ab
  3. Postpaket storlek m

Among its related pathways are superpathway of inositol phosphate compounds and Metabolism . We investigated the association between KD and single nucleotide polymorphisms (SNPs) in two candidate genes: inositol 1,4,5-triphosphate 3-kinase (ITPKC), a well-studied KD-associated gene, and solute carrier 11a1 (SLC11A1), which is associated with … HGNC:14897, ITPKC: MIM i: 606476, gene: neXtProt i: NX_Q96DU7: VEuPathDB i: HostDB:ENSG00000086544.2 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. Itpkc MGI Mouse Gene Detail - MGI:2442554 - inositol 1,4,5-trisphosphate 3-kinase C. View mouse Itpkc Chr7:27207170-27228617 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression. Home. 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. ITPKC expression was highest in TNBC, associated with its survival, and was its independent prognostic factor. ITPK1 (Inositol-Tetrakisphosphate 1-Kinase) is a Protein Coding gene.

Kawasaki disease (KD) is an acute febrile systemic vasculitis, and the cause of KD is not well understood. It is likely due to multiple interactions between genes 

Some features of the site may not work correctly. ITPKC gene.

Tyrosine-protein kinase ITK/TSK also known as interleukin-2-inducible T-cell kinase or simply ITK, is a protein that in humans is encoded by the ITK gene. ITK is 

The product SIRGT45481WQ is a type of small interfering RNA (siRNA) that targets ITPKC gene and regulates the expression of gene. 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. 30, 31 In KD, interactions between ITPKC and the caspase-3 gene have been studied with respect to an association between unresponsiveness of IVIG and development of coronary artery complications.

The clinical manifestations and laboratory data were systemically collected. Results: The GC and CC genotypes of ITPKC gene SNP rs28493229 were overrepresented in KD patients (GG:GC:CC was 236:43:1, C allele frequency: 8.04%) than those in the controls (GG:GC:CC was … 2019-12-07 ITPKC Antibodies 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.
Fideikommiss avveckling

ITPKC rs28493229 C/G, rs890934 G/T, rs2303723 C/T, and rs10420685 A/G polymorphisms were genotyped in a hospital-based study of 465 women with cervical squamous cell carcinoma (CSCC) and 800 age-matched healthy control women. Summaries for ITPKB gene (According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL) About This Sectio Gene-gene interactions between ITPKC and SLC11A1 in KD and BCG injection site erythema were also analyzed. Results: Three tagging SNPs in ITPKC and five tagging SNPs in SLC11A1 were genotyped in 299 KD patients and 210 control children. SNP rs28493229 in ITPKC was associated with KD and coronary artery complications. Summary of ITPKC expression in human tissue.

This study identified several important polymorphisms in the ITPKC and SLC11A1 genes in Koreans.
Skriva dokument på ipad

Itpkc gene






Gene-gene interactions have been linked to a number of important diseases, such as diabetes and essential hypertension. 30, 31 In KD, interactions between ITPKC and the caspase-3 gene have been studied with respect to an association between unresponsiveness of IVIG and development of coronary artery complications. 32, 33 The potential role of interactions between ITPKC and SLC11A1 was

Search. Sign In Create Free Account. You are currently offline.


Liljekvist laholm

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.

[PMID 20805785] Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation. 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. The C allele of the functional single-nucleotide polymorphism (SNP) rs28493229 in the ITPKC gene located on chromosome 19q13.2 is associated with susceptibility to KD and CALs in both Japanese and US children (21). The aim of our study was to determine whether this SNP is associated with susceptibility to KD or CALs in Taiwanese children.