Gene ID Unique ID sequence Mouse GeCKOv2 A number

En enda nukleotidpolymorfism rs4236480 i trpv5 kalciumkanalgen

The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. 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 (Inositol-Trisphosphate 3-Kinase C) is a Protein Coding gene.

This gene that has been associated with Kawasaki disease . [1] Kawasaki disease is an acute febrile illness that involves the inflammation of blood vessels throughout the body. 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 .

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. 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.

tr A0FDJ6 A0FDJ6_ORYLA 60S ribosomal protein L8 OS

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.

Gene ID Unique ID sequence Mouse GeCKOv2 A number

ITPKC, human: GenomeRNAi i: 80271: Gene expression databases. Bgee i: ENSG00000086544, Expressed in lower esophagus mucosa and 209 other tissues 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. 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. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and inositol tetrakisphosphate 1-kinase activity.

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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 .

Isotipo, IgG. Método de purificación, Antigen Affinity In this article, I review the candidate gene association studies to date. We investigated mRNA expression of ITPKC in various normal tissues and revealed that 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 18 Aug 2020 The ITPKC gene provides instructions for making one version (isoform) of the inositol 1,4,5-trisphosphate 3-kinase (ITPK) enzyme. This enzyme review revealed numerous potential susceptibility genes including genetic polymorphisms of ITPKC,.
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Phenotype data for mouse gene Itpkc. Discover Itpkc's significant phenotypes, expression, images, histopathology and more.

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sp A0A8J8 ANGP2_CANFA Angiopoietin-2 OS=Canis

Home. 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. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and inositol tetrakisphosphate 1-kinase activity. UniProtKB/Swiss-Prot Summary for ITPK1 Gene Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3. 2021-03-02 · ITPKC inositol-trisphosphate 3-kinase C [ (human)] Our findings suggest that ITPKC is a susceptibility gene for bone mineral density (BMD), and rs2607420 may play an important role in the regulation of this gene. This study identified several important polymorphisms in the ITPKC and SLC11A1 genes in Koreans. The gene view histogram is a graphical view of mutations across ITPKC.

sp A0A8J8 ANGP2_CANFA Angiopoietin-2 OS=Canis

Diseases associated with ITPKC include Kawasaki Disease and Coronary 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 3 Mar 2014 Study of the Association between ITPKC Genetic. Polymorphisms and Calcium Nephrolithiasis. Wei-Chih Kan,1,2 Yii-Her Chou,3 Siou-Jin Chiu 4 May 2018 But reduced ITPKC function in humans may hyperactivate T cells, B cells, and Several subsequent studies confirmed the ITPKClof genetic 22 Mar 2016 multiciliated tracheal epithelial cells and sperm cells using our Itpkc knock-out Interestingly, an ITPKC functional genetic polymorphism was. review revealed numerous potential susceptibility genes including genetic polymorphisms of ITPKC,.

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. 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. Human Gene ITPKC (ENST00000263370.3) Description and Page Index Description: Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA. (from RefSeq NM_025194) Panel Description This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Kawasaki Disease. Sequence variants and/or copy number variants (deletions/duplications) within the ITPKC gene will be detected with >99% sensitivity. 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 .