Gene: ITPKC

Alternate names for this Gene: IP3-3KC|IP3KC

Gene Summary: 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 encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: inositol-trisphosphate 3-kinase C

Type of Gene: protein-coding

Gene: COQ8B

Alternate names for this Gene: ADCK4|NPHS9

Gene Summary: This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: coenzyme Q8B

Type of Gene: protein-coding

rs2561530 in ITPKC;COQ8B gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs28493229 in ITPKC;COQ8B gene and Mucocutaneous Lymph Node Syndrome PMID 22081228 2011 Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.