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).
Immunodeficiency 28
IMD28
A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD28 is an autosomal recessive disease that manifests early in life, with severe, often fatal, infection.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the type II cytokine receptor family.
Expressed in T-cells (at protein level).
IFNGT1, IFNGR2, Interferon gamma receptor 2, IFN-gamma receptor 2, IFN-gamma-R2, Interferon gamma receptor accessory factor 1, Interferon gamma receptor beta-chain, Interferon gamma transducer 1, AF-1, IFN-gamma-R-beta
Proteins
Immuno-oncology
37806Da
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