Aliases for IFNGR2 Gene
External Ids for IFNGR2 Gene
Previous HGNC Symbols for IFNGR2 Gene
Previous GeneCards Identifiers for IFNGR2 Gene
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]
GeneCards Summary for IFNGR2 Gene
IFNGR2 (Interferon Gamma Receptor 2) is a Protein Coding gene. Diseases associated with IFNGR2 include Immunodeficiency 28 and Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar2 Deficiency. Among its related pathways are Toll-like receptor signaling pathway and Immune response IFN gamma signaling 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 IL10RB.
UniProtKB/Swiss-Prot for IFNGR2 Gene
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).