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ITPKC

Chr 19q13.2

inositol-trisphosphate 3-kinase C

Aliases:
IP3KC, IP3-3KC
MANE:
ENST00000263370.3

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    Unknown

Disease associations (Open Targets)

  • Kawasaki disease

    0.40
  • neurodegenerative disease

    0.35
  • autoimmune disorder of central nervous system

    0.24
  • inflammatory bowel disease

    0.13
  • breast carcinoma

    0.05
  • breast cancer

    0.04
  • neoplasm

    0.04
  • cancer

    0.03
  • dementia

    0.03
  • Erythema

    0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Inositol-trisphosphate 3-kinase C

Catalyzes the phosphorylation of 1D-myo-inositol 1,4,5-trisphosphate (InsP3) into 1D-myo-inositol 1,3,4,5-tetrakisphosphate and participates to the regulation of calcium homeostasis (PubMed:11085927, PubMed:12747803). Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.