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IL2RA

Chr 10p15.1

interleukin 2 receptor subunit alpha

Aliases:
CD25
MANE:
ENST00000379959.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Gastrointestinal epithelial barrier disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Infantile enterocolitis & monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Neonatal diabetes

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

    BIALLELIC, autosomal or pseudoautosomal
  • Diabetes with additional phenotypes suggestive of a monogenic aetiology

    BIALLELIC, autosomal or pseudoautosomal
  • Familial diabetes

    BIALLELIC, autosomal or pseudoautosomal
  • Familial Meniere Disease

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Disease associations (Open Targets)

  • immunodeficiency due to CD25 deficiency

    0.79
  • multiple sclerosis

    0.63
  • type 1 diabetes mellitus

    0.57
  • primary cutaneous T-cell non-Hodgkin lymphoma

    0.56
  • kidney transplant

    0.53
  • rheumatoid arthritis

    0.53
  • renal cell carcinoma

    0.52
  • neoplasm

    0.51
  • hypothyroidism

    0.49
  • metastatic melanoma

    0.48

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

Protein function (UniProt)

Interleukin-2 receptor subunit alpha

Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells

Curated MONDO disease pages that list IL2RA among their top associated genes.

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.