Interferon gamma receptor 2
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Interferon gamma receptor 2 also known as IFN-γR2 is a protein which in humans is encoded by the IFNGR2 gene.[5]
AliasesIFNGR2, AF-1, IFGR2, IFNGT1, IMD28, interferon gamma receptor 2 (interferon gamma transducer 1), interferon gamma receptor 2
External IDsOMIM: 147569; MGI: 107654; HomoloGene: 4041; GeneCards: IFNGR2; OMA:IFNGR2 - orthologs
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| Aliases | IFNGR2, AF-1, IFGR2, IFNGT1, IMD28, interferon gamma receptor 2 (interferon gamma transducer 1), interferon gamma receptor 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 147569; MGI: 107654; HomoloGene: 4041; GeneCards: IFNGR2; OMA:IFNGR2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
This gene (IFNGR2) 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.[6]
Clinical significance
Defects in IFNGR2 are a cause of autosomal recessive mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection.[7] All known mutations in IFNGR2 are collected in the IFNGR2 mutation database.[8]