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GenoLensGenoLens

IL18

Chr 11q23.1

interleukin 18

Aliases:
IGIF, IL1F4, IL-1g, IL-18
MANE:
ENST00000280357.12

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • COVID-19 research

    Unknown
  • Familial Meniere Disease

  • Primary immunodeficiency or monogenic inflammatory bowel disease

Disease associations (Open Targets)

  • hemophagocytic syndrome

    0.28
  • adult-onset Still disease

    0.14
  • type 2 diabetes mellitus

    0.13
  • smoking initiation

    0.13
  • systemic lupus erythematosus

    0.13
  • rheumatoid arthritis

    0.12
  • chronic obstructive pulmonary disease

    0.12
  • neoplasm

    0.12
  • acute kidney injury

    0.12
  • infection

    0.12

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

Protein function (UniProt)

Interleukin-18

Pro-inflammatory cytokine primarily involved in epithelial barrier repair, polarized T-helper 1 (Th1) cell and natural killer (NK) cell immune responses (PubMed:10653850). Upon binding to IL18R1 and IL18RAP, forms a signaling ternary complex which activates NF-kappa-B, triggering synthesis of inflammatory mediators (PubMed:14528293, PubMed:25500532, PubMed:37993714). Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T-helper 1 (Th1) cells and natural killer (NK) cells (PubMed:10653850). Involved in transduction of inflammation downstream of pyroptosis: its mature form is specifically released in the extracellular milieu by passing through the gasdermin-D (GSDMD) pore (PubMed:33883744)

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.