IFNGR2 Gene
Interferon Gamma Receptor 2
Gene Information Card
| Symbol | IFNGR2 |
|---|---|
| Full Name | Interferon Gamma Receptor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 3460 ncbi.nlm.nih.gov/gene/3460 |
| Ensembl ID | ENSG00000159128 |
| UniProt ID | P38484 |
| OMIM ID | 147569 |
| HGNC ID | 5440 |
| Aliases | AF-1, IFNGT1, IFNGR2, IFGR2, IMDB4 |
Description
IFNGR2 encodes the non-ligand-binding beta chain of the interferon gamma receptor. This subunit is required for signal transduction in response to interferon gamma (IFN-γ), playing a critical role in innate and adaptive immunity. Defects in IFNGR2 cause Mendelian susceptibility to mycobacterial disease (MSMD), characterized by severe infections with weakly virulent mycobacteria.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mendelian susceptibility to mycobacterial disease (MSMD) | Loss-of-function mutations impair IFN-γ signaling, reducing macrophage activation and mycobacterial killing. | OMIM #147569; ClinVar |
| Immunodeficiency 28 (IMD28) | Autosomal recessive IFNGR2 deficiency leads to complete or partial IFN-γ receptor dysfunction. | OMIM #614889; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 6.2 | Low |
| Whole blood | 4.1 | Low |
| Small intestine | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | Monocytic cell line |
| K-562 (lymphoblast) | 8.7 | Myelogenous leukemia |
| HeLa (cervical) | 5.3 | Epithelial |
| HepG2 (hepatoma) | 3.1 | Hepatocellular |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.278A>G (p.Asn93Ser) | Missense | <0.01% | Reduced IFN-γ binding and signaling |
| c.561delC (p.Leu188Cysfs*12) | Frameshift | Rare | Loss of function; truncated protein |
| c.115C>T (p.Arg39*) | Nonsense | Rare | Premature stop; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most IFNGR2 mutations are loss-of-function, leading to partial or complete IFN-γ receptor deficiency and increased susceptibility to mycobacterial infections.
Gain of Function (GOF)
No gain-of-function mutations have been reported for IFNGR2.
Dominant Negative (DN)
Dominant-negative effects have not been described; inheritance is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Interferon gamma signaling (Reactome: R-HSA-877300)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• Th1 and Th2 cell differentiation (KEGG: hsa04658)
Protein Summary
IFNGR2 is a 337-amino acid transmembrane protein that forms a heterodimeric receptor complex with IFNGR1. Upon IFN-γ binding, IFNGR2 recruits JAK2 and STAT1, initiating phosphorylation cascades that drive macrophage activation, antigen presentation, and antimicrobial responses. The protein is widely expressed in immune tissues and is essential for host defense against intracellular pathogens.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFNGR2 Knockout HEK293 Cell Line | EDJ-KQ477 | Human | 3460 | Details Get a Quote |
| IFNGR2 Knockout A-549 Cell Line | EDJ-KQ18785 | Human | 3460 | Details Get a Quote |
| IFNGR2 Knockout HCT 116 Cell Line | EDJ-KQ18786 | Human | 3460 | Details Get a Quote |
| IFNGR2 Knockout HeLa Cell Line | EDJ-KQ18787 | Human | 3460 | Details Get a Quote |
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