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IL12RB2

Chr 1p31.3

interleukin 12 receptor subunit beta 2

MANE:
ENST00000674203.2

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)

  • primary biliary cholangitis

    0.46
  • rheumatoid arthritis

    0.46
  • hypothyroidism

    0.45
  • systemic lupus erythematosus

    0.43
  • Crohn disease

    0.42
  • systemic sclerosis

    0.42
  • biliary liver cirrhosis

    0.40
  • Behcet disease

    0.37
  • Mendelian susceptibility to mycobacterial diseases

    0.37
  • neurodegenerative disease

    0.35

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

Protein function (UniProt)

Interleukin-12 receptor subunit beta-2

Receptor for interleukin-12. This subunit is the signaling component coupling to the JAK2/STAT4 pathway. Promotes the proliferation of T-cells as well as NK cells. Induces the promotion of T-cells towards the Th1 phenotype by strongly enhancing IFN-gamma production

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.