Reviewed June 2011
What is the official name of the ITPKC gene?
The official name of this gene is “inositol-trisphosphate 3-kinase C.”
ITPKC is the gene's official symbol. The ITPKC gene is also known by other names, listed below.
What is the normal function of the ITPKC gene?
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. Both of these molecules are involved in regulating the amount of calcium in cells.
Several versions (isoforms) of the ITPK enzyme are produced from different genes. They play a variety of roles in processes throughout the body. The isoform produced from the ITPKC gene is called inositol 1,4,5-trisphosphate 3-kinase C (ITPKC). It is involved in a mechanism called the Ca(2+)/NFAT signaling pathway, which is affected by calcium levels. This pathway helps limit the activity of immune system cells called T cells. T cells identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of immune proteins called cytokines that lead to inflammation and which, in excess, cause tissue damage.
How are changes in the ITPKC gene related to health conditions?
- Kawasaki disease - increased risk from variations of the ITPKC gene
A variation in the ITPKC gene has been associated with an increased risk of Kawasaki disease, a sudden and time-limited (acute) illness affecting infants and children resulting in prolonged fever, inflammation, and other signs and symptoms. The variation changes a single DNA building block (nucleotide) in a region of the gene known as intron 1. It appears to reduce the efficiency of ITPKC gene transcription, which is the first step in producing the ITPKC enzyme. Researchers suggest that the variation may reduce the amount of ITPKC enzyme and interfere with the body's ability to limit T cell activity, leading to inflammation that damages blood vessels and results in the signs and symptoms of Kawasaki disease.
Where is the ITPKC gene located?
Cytogenetic Location: 19q13.1
Molecular Location on chromosome 19: base pairs 40,716,980 to 40,740,860
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/80271))
The ITPKC gene is located on the long (q) arm of chromosome 19 at position 13.1.
More precisely, the ITPKC gene is located from base pair 40,716,980 to base pair 40,740,860 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about ITPKC?
You and your healthcare professional may find the following resources about ITPKC helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ITPKC (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80271%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28ITPKC%5BTIAB%5D%29%20OR%20%28%28IP3-3KC%5BTIAB%5D%29%20OR%20%28IP3K%20C%5BTIAB%5D%29%20OR%20%28InsP%203%20kinase%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/606476)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ITPKC.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=14897)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/80271)
What other names do people use for the ITPKC gene or gene products?
- inositol 1,4,5-trisphosphate 3-kinase C
- InsP 3 kinase C
- insP 3-kinase C
- IP3 3-kinase C
- IP3K C
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding ITPKC?
gene transcription ;
immune system ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Burns JC. Kawasaki Disease update. Indian J Pediatr. 2009 Jan;76(1):71-6. doi: 10.1007/s12098-009-0031-3. Epub 2009 Apr 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19391005?dopt=Abstract)
- Hata A, Onouchi Y. Susceptibility genes for Kawasaki disease: toward implementation of personalized medicine. J Hum Genet. 2009 Feb;54(2):67-73. doi: 10.1038/jhg.2008.9. Epub 2009 Jan 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19158812?dopt=Abstract)
- OMIM: INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE C (http://omim.org/entry/606476)
- Kuo HC, Yang KD, Juo SH, Liang CD, Chen WC, Wang YS, Lee CH, Hsi E, Yu HR, Woon PY, Lin IC, Huang CF, Hwang DY, Lee CP, Lin LY, Chang WP, Chang WC. ITPKC single nucleotide polymorphism associated with the Kawasaki disease in a Taiwanese population. PLoS One. 2011 Apr 14;6(4):e17370. doi: 10.1371/journal.pone.0017370. (http://www.ncbi.nlm.nih.gov/pubmed/21533171?dopt=Abstract)
- Lin MT, Wang JK, Yeh JI, Sun LC, Chen PL, Wu JF, Chang CC, Lee WL, Shen CT, Wang NK, Wu CS, Yeh SZ, Chen CA, Chiu SN, Wu MH. Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation. Pediatr Infect Dis J. 2011 Feb;30(2):148-52. doi: 10.1097/INF.0b013e3181f43a4e. (http://www.ncbi.nlm.nih.gov/pubmed/20805785?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/80271)
- Onouchi Y, Gunji T, Burns JC, Shimizu C, Newburger JW, Yashiro M, Nakamura Y, Yanagawa H, Wakui K, Fukushima Y, Kishi F, Hamamoto K, Terai M, Sato Y, Ouchi K, Saji T, Nariai A, Kaburagi Y, Yoshikawa T, Suzuki K, Tanaka T, Nagai T, Cho H, Fujino A, Sekine A, Nakamichi R, Tsunoda T, Kawasaki T, Nakamura Y, Hata A. ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Nat Genet. 2008 Jan;40(1):35-42. Epub 2007 Dec 16. (http://www.ncbi.nlm.nih.gov/pubmed/18084290?dopt=Abstract)
- Onouchi Y. Molecular genetics of Kawasaki disease. Pediatr Res. 2009 May;65(5 Pt 2):46R-54R. doi: 10.1203/PDR.0b013e31819dba60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19190534?dopt=Abstract)
- Yeung RS. Kawasaki disease: update on pathogenesis. Curr Opin Rheumatol. 2010 Sep;22(5):551-60. doi: 10.1097/BOR.0b013e32833cf051. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20616737?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.