IFNGR2
Description
The IFNGR2 (interferon gamma receptor 2) is a protein-coding gene located on chromosome 21.
The IFNGR2 gene encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a multimer of two IFN-γR1 chains (encoded by IFNGR1) and two IFN-γR2 chains. Defects in IFNGR2 can cause autosomal recessive mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. All known mutations in IFNGR2 are collected in the IFNGR2 mutation database.
IFNGR2 associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG). Ligand binding stimulates activation of the JAK/STAT signaling pathway. IFNGR2 is required for signal transduction, while IFNGR1 is responsible for ligand binding.
IFNGR2 is also known as AF-1, IFGR2, IFNGT1, IMD28.
