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 (Interferon Gamma Transducer 1)) is a Protein Coding gene. Diseases associated with IFNGR2 include immunodeficiency 28, mycobacteriosis and mendelian susceptibility to mycobacterial diseases due to complete ifngammar2 deficiency. Among its related pathways are Immune System and Interferon gamma signaling. GO annotations related to this gene include cytokine receptor activity and interferon-gamma receptor activity.
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).