IFNG (Interferon Gamma)
Key cytokine in immune response and inflammation
Gene Information Card
| Symbol | IFNG |
|---|---|
| Full Name | Interferon Gamma |
| Gene Type | Protein coding |
| Chromosomal Location | 12q15 |
| NCBI Gene ID | 3458 ncbi.nlm.nih.gov/gene/3458 |
| Ensembl ID | ENSG00000111537 |
| UniProt ID | P01579 |
| OMIM ID | 147570 |
| HGNC ID | 5438 |
| Aliases | IFG, IFI, IFNG, interferon gamma |
Description
The IFNG gene encodes interferon gamma, a dimerized soluble cytokine that is a critical component of the innate and adaptive immune response. It is produced primarily by T cells and natural killer cells and activates macrophages, enhances antigen presentation, and inhibits viral replication.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 69 (IMD69) | Loss-of-function mutations in IFNG impair macrophage activation and IFN-γ signaling, leading to increased susceptibility to mycobacterial infections. | ClinVar, OMIM |
| Aplastic anemia | Dysregulated IFN-γ expression contributes to bone marrow failure by suppressing hematopoietic stem cells. | NCBI Gene, OMIM |
| Inflammatory bowel disease (IBD) | Elevated IFN-γ levels promote intestinal inflammation and tissue damage in Crohn's disease. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 0.3 | Low |
| Lymph node | 0.2 | Low |
| Bone marrow | 0.1 | Low |
| Lung | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 | 0.5 | Natural killer cell line |
| Jurkat | 0.2 | T cell line |
| THP-1 | 0.1 | Monocyte cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.105C>T (p.Gln35*) | Nonsense | Rare | Loss of function |
| c.374A>G (p.Tyr125Cys) | Missense | Rare | Loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most IFNG mutations are loss-of-function, impairing cytokine production or receptor binding, leading to immunodeficiency.
Gain of Function (GOF)
No gain-of-function mutations are reported in IFNG.
Dominant Negative (DN)
No dominant-negative mutations are reported in IFNG.
View complete mutation data:
Gene Ontology (GO)
| • cytokine activity | • interferon-gamma receptor binding |
| • immune response | • positive regulation of macrophage activation |
| • positive regulation of MHC class II biosynthesis |
Pathways
• IFN-gamma signaling pathway
• Th1 and Th2 cell differentiation
• Cytokine-cytokine receptor interaction
• Natural killer cell mediated cytotoxicity
Protein Summary
Interferon gamma is a homodimeric cytokine with a molecular weight of approximately 40 kDa. It binds to the IFN-γ receptor (IFNGR1/IFNGR2) to activate JAK-STAT signaling, leading to transcription of genes involved in antiviral defense, macrophage activation, and antigen presentation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFNg Overexpression HEK293 Stable Cell Line | EDJ-GQ88 | Human | 3458 | Details Get a Quote |
| IFNGR1 Knockout HEK293 Cell Line | EDJ-KQ476 | Human | 3459 | Details Get a Quote |
| IFNGR2 Knockout HEK293 Cell Line | EDJ-KQ477 | Human | 3460 | Details Get a Quote |
| IFNG Knockout HEK293 Cell Line | EDJ-KQ1492 | Human | 3458 | Details Get a Quote |
| IFNGR1 Knockout A-549 Cell Line | EDJ-KQ18782 | Human | 3459 | Details Get a Quote |
| IFNGR1 Knockout HCT 116 Cell Line | EDJ-KQ18783 | Human | 3459 | Details Get a Quote |
| IFNGR1 Knockout HeLa Cell Line | EDJ-KQ18784 | Human | 3459 | 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 |
| IFNG Knockout HeLa Cell Line | EDJ-KQ53621 | Human | 3458 | Details Get a Quote |
| IFNG Knockout A-549 Cell Line | EDJ-KQ62091 | Human | 3458 | Details Get a Quote |
| IFNG Knockout HCT 116 Cell Line | EDJ-KQ70575 | Human | 3458 | Details Get a Quote |
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