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IL7R

Chr 5p13.2

interleukin 7 receptor

Aliases:
CD127, IL7RA, lnc-IL7R, IL-7Ralpha, IL7Ralpha
MANE:
ENST00000303115.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

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

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • immunodeficiency 104

    0.79
  • asthma

    0.59
  • multiple sclerosis

    0.58
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency

    0.58
  • hypothyroidism

    0.57
  • Omenn syndrome

    0.56
  • allergic rhinitis

    0.55
  • atopic eczema

    0.55
  • Eczematoid dermatitis

    0.55
  • primary biliary cholangitis

    0.55

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

Protein function (UniProt)

Interleukin-7 receptor subunit alpha

Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP)

Curated MONDO disease pages that list IL7R 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.