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ITPKB

Chr 1q42.12

inositol-trisphosphate 3-kinase B

Aliases:
IP3KB, IP3-3KB
MANE:
ENST00000429204.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Parkinson disease

    0.58
  • neurodegenerative disease

    0.54
  • asthma

    0.43
  • myeloproliferative neoplasm, unclassifiable

    0.42
  • respiratory system disorder

    0.41
  • allergic disease

    0.37
  • Abnormality of refraction

    0.34
  • Alzheimer disease

    0.32
  • multiple sclerosis

    0.31
  • lysosomal storage disease

    0.31

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

Protein function (UniProt)

Inositol-trisphosphate 3-kinase B

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

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.