Summary of IFNGR1
IFNGR1 is a gene that codes for the lignad-binding chain of the Interferon-Gamma cell receptor, a portion of the protein which is involved in immune system function [R]. Mutations of this gene are responsible for suceptibility to mycobacterial disease, tuberculosis, and the skin condition Atopic Dermatitis, among other conditions [R,R2,R3]
The Function of IFNGR1
Associates with IFNGR2 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:2971451, PubMed:7617032, PubMed:10986460). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:7673114).
Protein names
Recommended name:
Interferon gamma receptor 1Alternative name(s):
IFN-gamma receptor 1IFN-gamma-R1
CDw119
Interferon gamma receptor alpha-chain
IFN-gamma-R-alpha
CD antigen CD119
- RS1327474 (IFNGR1) ??
- RS3799488 (IFNGR1) ??
- RS7749390 (IFNGR1) ??
To see your genotype, you should be logged in and have a file with your genotype uploaded.
Top Gene-Substance Interactions
IFNGR1 Interacts with These Diseases
Disease | Score |
Substances That Increase IFNGR1
Substances | Interaction | Organism | Category |
Substances That Decrease IFNGR1
Substances | Interaction | Organism | Category |
Advanced Summary
From NCBI Gene: Immunodeficiency 27bDisseminated atypical mycobacterial infectionHelicobacter pylori infection, susceptibility toHepatitis b virus, susceptibility toMycobacterium tuberculosis, susceptibility toFrom UniProt: Immunodeficiency 27B (IMD27B): A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD27B commonly presents with recurrent, moderately severe infections with environmental mycobacteria or BCG. Salmonellosis is present in about 5% of patients. [MIM:615978] Immunodeficiency 27A (IMD27A): A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. [MIM:209950]
From NCBI Gene: This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008] From UniProt: Associates with IFNGR2 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:2971451, PubMed:7617032, PubMed:10986460). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:7673114).
Conditions with Increased Gene Activity
Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
---|
Conditions with Decreased Gene Activity
Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
---|
Technical
The following transcription factors affect gene expression:
Gene Pathways:
Molecular Function:
Biological Processes:
- Interferon-Gamma-Mediated Signaling Pathway
- Regulation Of Interferon-Gamma-Mediated Signaling Pathway
- Response To Virus
- Signal Transduction