IFNGR2

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]

Full Name

interferon gamma receptor 2 (interferon gamma transducer 1)

Function

Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:8124716, PubMed:7673114,PubMed:7615558).

Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:8124716, PubMed:7673114, PubMed:15356148).

Required for signal transduction in contrast to other receptor subunit responsible for ligand binding (PubMed:7673114).

Biological Process

Cell surface receptor signaling pathway Source: ProtInc
Cytokine-mediated signaling pathway Source: GO_Central
Defense response to virus Source: Ensembl
Microglial cell activation Source: Ensembl
Positive regulation of NMDA glutamate receptor activity Source: Ensembl
Response to virus Source: ProtInc

Cellular Location

Golgi apparatus membrane; Endoplasmic reticulum membrane; Cytoplasm; Cell membrane; Cytoplasmic vesicle membrane. Has low cell surface expression and high cytoplasmic expression in T cells. The bias towards cytoplasmic expression may be due to ligand-independent receptor internalization and recycling.

Involvement in disease

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.

Topology

Extracellular: 28-247
Helical: 248-268
Cytoplasmic: 269-337