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IL1RN

Chr 2q14.1

interleukin 1 receptor antagonist

Aliases:
IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN
MANE:
ENST00000409930.4

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Autoinflammatory disorders

    BIALLELIC, autosomal or pseudoautosomal
  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Periodic fever syndromes

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

    BIALLELIC, autosomal or pseudoautosomal
  • Rare genetic inflammatory skin disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

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

Disease associations (Open Targets)

  • sterile multifocal osteomyelitis with periostitis and pustulosis

    0.77
  • gout

    0.56
  • abdominal aortic aneurysm

    0.44
  • diabetic retinopathy

    0.37
  • ischemic stroke

    0.37
  • coronary artery disorder

    0.37
  • venous thromboembolism

    0.36
  • autoinflammatory syndrome

    0.34
  • hypothyroidism

    0.30
  • hypertrophic cardiomyopathy

    0.27

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

Protein function (UniProt)

Interleukin-1 receptor antagonist protein

Anti-inflammatory antagonist of interleukin-1 family of proinflammatory cytokines such as interleukin-1beta/IL1B and interleukin-1alpha/IL1A. Protects from immune dysregulation and uncontrolled systemic inflammation triggered by IL1 for a range of innate stimulatory agents such as pathogens

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.