InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IFNGR2

Summary

InnateDB Protein

IDBP-2144.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IFNGR2

Protein Name

interferon gamma receptor 2 (interferon gamma transducer 1)

Synonyms

AF-1; IFGR2; IFNGT1; IMD28;

Species

Homo sapiens

Ensembl Protein

ENSP00000290219

InnateDB Gene

IDBG-2140 (IFNGR2)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]: 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. {ECO:0000269PubMed:15924140}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	10 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004906	interferon-gamma receptor activity
GO:0005515	protein binding

Biological Process

GO:0007166	cell surface receptor signaling pathway
GO:0009615	response to virus
GO:0019221	cytokine-mediated signaling pathway
GO:0045087	innate immune response (InnateDB)
GO:0060333	interferon-gamma-mediated signaling pathway
GO:0060334	regulation of interferon-gamma-mediated signaling pathway