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IL6R

Chr 1q21.3

interleukin 6 receptor

Aliases:
CD126, IL-6R, IL-1Ra, IL6RA, gp80
MANE:
ENST00000368485.8

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)

  • rheumatoid arthritis

    0.74
  • Eczematoid dermatitis

    0.64
  • COVID-19

    0.63
  • juvenile idiopathic arthritis

    0.60
  • neuromyelitis optica

    0.58
  • coronary artery disorder

    0.58
  • temporal arteritis

    0.58
  • hyper-IgE recurrent infection syndrome 5, autosomal recessive

    0.58
  • asthma

    0.56
  • atopic eczema

    0.55

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

Protein function (UniProt)

Interleukin-6 receptor subunit alpha

Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal (PubMed:28265003). Signal activation necessitate an association with IL6ST. Activation leads to the regulation of the immune response, acute-phase reactions and hematopoiesis (PubMed:30995492, PubMed:31235509). The interaction with membrane-bound IL6R and IL6ST stimulates 'classic signaling', the restricted expression of the IL6R limits classic IL6 signaling to only a few tissues such as the liver and some cells of the immune system. Whereas the binding of IL6 and soluble IL6R to IL6ST stimulates 'trans-signaling'. Alternatively, 'cluster signaling' occurs when membrane-bound IL6:IL6R complexes on transmitter cells activate IL6ST receptors on neighboring receiver cells (Probable)

Curated MONDO disease pages that list IL6R 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.