AAA16956.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
AF-1
NCBI Official Synonym Full Names
interferon gamma receptor 2 (interferon gamma transducer 1)
NCBI Protein Information
interferon gamma receptor 2
UniProt Protein Name
Interferon gamma receptor 2
UniProt Synonym Protein Names
Interferon gamma receptor accessory factor 1; AF-1; Interferon gamma transducer 1
UniProt Synonym Gene Names
UniProt Entry Name
INGR2_HUMAN
NCBI Summary for AF-1
This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
UniProt Comments for AF-1
IFNGR2: Part of the receptor for interferon gamma. Required for signal transduction. This accessory factor is an integral part of the IFN-gamma signal transduction pathway and is likely to interact with GAF, JAK1, and/or JAK2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD); also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and 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. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. 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. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. Belongs to the type II cytokine receptor family.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: 21q22.11
Cellular Component: cytoplasmic vesicle membrane; endoplasmic reticulum; endoplasmic reticulum membrane; Golgi membrane; integral to plasma membrane; plasma membrane
Molecular Function: interferon-gamma receptor activity
Biological Process: cell surface receptor linked signal transduction; response to virus
Disease: Immunodeficiency 28
Research Articles on AF-1
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Pathways associated with AF-1 peptide
Diseases associated with AF-1 peptide
Organs/Tissues associated with AF-1 peptide
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