IFNGR1 wt Allele

Preferred Label : IFNGR1 wt Allele;

NCIt synonyms : IFNGR; Interferon Gamma Receptor 1 wt Allele; IMD27A; AVP, Type 2 Gene; Antiviral Protein, Type 2 Gene; CD119; IMD27B;

NCIt definition : Human IFNGR1 wild-type allele is located within 6q23-q24 and is approximately 22 kb in length. This allele, which encodes interferon gamma receptor 1 protein, is involved in receptor-mediated signal transduction and macrophage activation for host defense response. Defects in the gene result in variant alleles that are the cause of familial disseminated atypical mycobacterial infection and disseminated BCG infection or (FDAMI).;

GenBank Accession Number : NM_000416;

Details

Origin ID

C51354;

UMLS CUI

C1708409;

OMIM relation
- Interferon-gamma receptor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Helicobacter Pylori Infection [NCIt concept]
- Mycobacterial Infection [NCIt concept]
- Tuberculosis [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 6: 137582200-137560315 [NCIt concept]
gene_in_chromosomal_location
- 6q23-q24 [NCIt concept]
gene_is_element_in_pathway
- Chagas Disease Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- IFN Gamma Signaling Pathway [NCIt concept]
- Interferon Signaling Modulation Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
- Leishmaniasis Infection Pathway [NCIt concept]
- Natural Killer Cell-Mediated Cytotoxicity Pathway [NCIt concept]
- Salmonella Pathway [NCIt concept]
- T-Cell Polarization Pathway [NCIt concept]
- Th1/Th2 Differentiation Pathway [NCIt concept]
gene_plays_role_in_process
- Antiviral Response [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Interferon Signaling Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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