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GenoLensGenoLens

IL7

Chr 8q21.13

interleukin 7

Aliases:
IL-7
MANE:
ENST00000263851.9

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Epidermodysplasia verruciformis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • epidermodysplasia verruciformis

    0.56
  • severe combined immunodeficiency

    0.37
  • combined immunodeficiency

    0.37
  • basal cell carcinoma

    0.26
  • systemic lupus erythematosus

    0.25
  • cancer

    0.25
  • cardiomyopathy

    0.24
  • autoimmune disorder of musculoskeletal system

    0.24
  • biliary tract disorder

    0.24
  • tricuspid valve disorder

    0.24

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

Protein function (UniProt)

Interleukin-7

Hematopoietic cytokine that plays an essential role in the development, expansion, and survival of naive and memory T-cells and B-cells thereby regulating the number of mature lymphocytes and maintaining lymphoid homeostasis (PubMed:25870237, PubMed:7527823). Mechanistically, exerts its biological effects through a receptor composed of IL7RA subunit and the cytokine receptor common subunit gamma/CSF2RG (PubMed:8128231). Binding to the receptor leads to activation of various kinases including JAK1 or JAK3 depending on the cell type and subsequently propagation of signals through activation of several downstream signaling pathways including the PI3K/Akt/mTOR or the JAK-STAT5 (PubMed:18523275, PubMed:20974963)

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.