IFNGR2 encodes the signal-transducing subunit of the interferon-gamma receptor complex, which associates with IFNGR1 to form a functional receptor for IFN-γ 1. This receptor is essential for signal transduction rather than ligand binding, and upon IFN-γ binding, it activates the JAK-STAT signaling pathway to induce antiviral and immune responses 1. IFNGR2 plays a critical role in both innate and adaptive immunity against pathogens, particularly mycobacteria. Loss-of-function mutations in IFNGR2 cause Mendelian susceptibility to mycobacterial disease (MSMD), leading to severe infections with nontuberculous mycobacteria and BCG vaccine strains 234. A digenic immunodeficiency has been reported combining IFNGR2 and IFNAR1 mutations, resulting in susceptibility to both mycobacterial and viral infections 2. Beyond infectious disease susceptibility, IFNGR2 has been implicated in cancer biology, with roles in immune cell infiltration in gliomas and potential involvement in gastric cancer glycolytic metabolism 56. The gene has also been identified as a psoriasis susceptibility locus, highlighting its broader role in immune-mediated diseases 7.
No tissue expression data available for this gene.