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IKZF2

Chr 2q34

IKAROS family zinc finger 2

Aliases:
Helios
MANE:
ENST00000434687.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • ICHAD syndrome

    0.55
  • hypothyroidism

    0.45
  • prostate carcinoma

    0.43
  • immunodysregulation with variable immunodeficiency and autoimmunity

    0.42
  • systemic lupus erythematosus

    0.41
  • allergic rhinitis

    0.40
  • smoking initiation

    0.38
  • Abnormality of the skeletal system

    0.38
  • neurodegenerative disease

    0.38
  • glaucoma

    0.32

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

Protein function (UniProt)

Zinc finger protein Helios

Transcription factor, which stabilizes the noninflammatory phenotype of regulatory T cells (Tregs) (By similarity). May possibly act via STAT5-mediated signaling (By similarity). Binds IL2 promoter and represses its transcription, possibly by epigenetic silencing, inducing deacetylation of core histones in the IL2 promoter (PubMed:37316189). In Tregs, required for FOXP3 recruitment to the IL2 promoter (By similarity). Required for outer hair cells maturation and, consequently, for hearing (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.