ITPKC inositol-trisphosphate 3-kinase C

Gene ID: 80271, updated on 5-Mar-2024
Gene type: protein coding
Also known as: IP3KC; IP3-3KC

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.[provided by RefSeq, Sep 2009]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. GeneReviews: Not available

Genomic context

Location:: 19q13.2

Sequence:: Chromosome: 19; NC_000019.10 (40717112..40740860)

Total number of exons:: 7

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ITPKC variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
ITPKC database
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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