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GenoLensGenoLens

IFNGR2

Chr 21q22.11

interferon gamma receptor 2

Aliases:
AF-1
MANE:
ENST00000290219.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • immunodeficiency 28

    0.76
  • Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

    0.56
  • chronic granulomatous disease

    0.53
  • idiopathic pulmonary fibrosis

    0.49
  • rheumatoid arthritis

    0.48
  • Crohn disease

    0.48
  • osteopetrosis

    0.44
  • inflammatory bowel disease

    0.42
  • neoplasm

    0.40
  • cystic fibrosis

    0.39

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

Protein function (UniProt)

Interferon gamma receptor 2

Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:7673114, PubMed:8124716). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:15356148, PubMed:7673114, PubMed:8124716). Required for signal transduction in contrast to other receptor subunit responsible for ligand binding (PubMed:7673114)

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.