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IKZF3

Chr 17q12-q21.1

IKAROS family zinc finger 3

Aliases:
Aiolos
MANE:
ENST00000346872.8

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • immunodeficiency 84

    0.63
  • B-cell chronic lymphocytic leukemia

    0.44
  • neurodegenerative disease

    0.43
  • prostate adenocarcinoma

    0.37
  • cutaneous melanoma

    0.37
  • lymphoid neoplasm

    0.37
  • carcinoma of liver and intrahepatic biliary tract

    0.37
  • skin squamous cell carcinoma

    0.37
  • breast ductal adenocarcinoma

    0.37
  • HER2 positive breast carcinoma

    0.37

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

Protein function (UniProt)

Zinc finger protein Aiolos

Transcription factor that plays an important role in the regulation of lymphocyte differentiation. Plays an essential role in regulation of B-cell differentiation, proliferation and maturation to an effector state. Involved in regulating BCL2 expression and controlling apoptosis in T-cells in an IL2-dependent manner

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.