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.

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 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
Displaying Records 1 To 13 Of 13 Records
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