Aliases for IFNGR1 Gene
External Ids for IFNGR1 Gene
Previous HGNC Symbols for IFNGR1 Gene
Previous GeneCards Identifiers for IFNGR1 Gene
This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
GeneCards Summary for IFNGR1 Gene
IFNGR1 (Interferon Gamma Receptor 1) is a Protein Coding gene. Diseases associated with IFNGR1 include Immunodeficiency 27A and Immunodeficiency 27B. Among its related pathways are Toxoplasmosis and Osteoclast differentiation. Gene Ontology (GO) annotations related to this gene include cytokine receptor activity and interferon-gamma receptor activity. An important paralog of this gene is IL20RA.
UniProtKB/Swiss-Prot Summary for IFNGR1 Gene
Associates with IFNGR2 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:2971451, PubMed:7617032, PubMed:10986460). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:7673114). Plays an essential role in the IFN-gamma pathway that is required for the cellular response to infectious agents (PubMed:20015550).