The gene view histogram is a graphical view of mutations across ITPKC. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left.

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. ITPK isoforms include ITPKA, ITPKB, and ITPKC, all of which contain a conserved catalytic unit in their C termini, but have unique N-terminal sequences and tissue distributions.

Embryo viewer. N/A Other links. MGI Ensembl . Significant phenotypes (0) Measurements chart (0) All data table (0) Expression & images Human Gene ITPKC (ENST00000263370.3) Description and Page Index Description: Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA. (from RefSeq NM_025194) Summaries for ITPKC gene (According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL) About This Sectio General information; Gene symbol: ITPKC: Gene name: inositol-trisphosphate 3-kinase C: Chromosome: 19: Chromosomal band: q13.1: Imprinted: Unknown: Genomic reference ITPKC: Gene description i.

Itpkc gene

The ITPKC gene encodes as one of three isoenzymes (ITPKA and ITPKB) for a member of the inositol 1,4,5-trisphosphate 3-kinase family. 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. Sequence variants and/or copy number variants (deletions/duplications) within the ITPKC gene will be detected with >99% sensitivity. Variants classified as unknown significance (VUS), likely pathogenic, or pathogenic will be reported.

4 Nov 2018 genome-wide association studies (GWASs) have been conducted ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese.

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.

Inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene is a negative regulator of T cell activation and is a proven promoter of Kawasaki disease. Given the critical role of immune response in breast cancer, we aimed to determine the clinical relevance of ITPKC expression in breast cancer.

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. Diseases associated with ITPK1 include Neural Tube Defects.Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Inositol phosphate metabolism.Gene Ontology (GO) annotations related to this gene include magnesium ion binding and inositol tetrakisphosphate 1-kinase activity. Gene information about ENSG00000086544 / ITPKC - inositol-trisphosphate 3-kinase C We use cookies to enhance the usability of our website. If you continue, we'll … ITPKC gene expression in Bgee. Bgee allows to automatically compare gene expression patterns between species, by referencing expression data on anatomical ontologies, and designing homology relationships between them. The gene view histogram is a graphical view of mutations across ITPKC.

The ITPKC gene provides instructions for making one version (isoform) of the inositol 1,4,5-trisphosphate 3-kinase (ITPK) enzyme. This enzyme helps add a cluster of oxygen and phosphorus atoms (a phosphate group) to a molecule called Ins (1,4,5)P3 to produce a molecule called Ins (1,3,4,5)P4. ITPKC (Inositol-Trisphosphate 3-Kinase C) is a Protein Coding gene. Diseases associated with ITPKC include Kawasaki Disease and Coronary Aneurysm . Among its related pathways are superpathway of inositol phosphate compounds and Metabolism . Gene name: ITPKC (HGNC Symbol) Synonyms: IP3-3KC, IP3KC: Description: Inositol-trisphosphate 3-kinase C (HGNC Symbol) Chromosome: 19: Cytoband: q13.2: Chromosome location (bp) 40717103 - 40740860: Number of transcripts i HGNC:14897, ITPKC: MIM i: 606476, gene: neXtProt i: NX_Q96DU7: VEuPathDB i: HostDB:ENSG00000086544.2 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 the hypersensitive reaction to the BCG strain in Koreans.
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Diseases associated with ITPKC include Kawasaki Disease and Coronary Aneurysm . 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.

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. ITPKC gene product. IP3-3KC, IP3KC.
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Gene Stat Angle Cell Pvalue Qvalue A1BG 1.07177295114858 ITPKC 1.8183145474879 32.8079051285393 CACO2 0.124227946916472

ITPK isoforms include ITPKA, ITPKB, and ITPKC, all of which contain a conserved catalytic unit in their C termini, but have unique N-terminal sequences and tissue distributions. Next-day shipping cDNA ORF clones derived from Itpkc inositol-trisphosphate 3-kinase C available at GenScript, starting from $99.00. The Parkinson’s disease-associated gene ITPKB protects against α-synuclein aggregation by regulating ER-to-mitochondria calcium release Daniel J. Apiccoa,b,1 , Evgeny Shlevkova, Catherine L. Nezicha , David T. Trana , Edward Guilmettec, We aim to study if polymorphisms in the ITPKC gene are associated with the risk of cervical cancer in Taiwanese women.