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 JAK-STAT signaling pathway and Toll Comparative Pathway. 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).