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FLASH GENE
Symbol IFNGR1 contributors: mct - updated : 05-09-2017
HGNC name interferon gamma receptor 1
HGNC id 5439
ASSOCIATED DISORDERS
corresponding disease(s) IMD27A
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
deletion/insertion polymorphism in Africans but not Europeans or Asians, and associated with resistance to severe malaria.
Susceptibility
  • to H. pylori infection
  • schistosomal hepatic fibrosis
  • to malaria
  • to tuberculosis (TB)
  • to mycobacterial disease
  • Variant & Polymorphism SNP , insertion/deletion , other
  • IFNGR1-56T and IFNGR1-470ins/del associated with susceptibility to malaria
  • genetic polymorphisms in the promoter of IFNGR1 gene are associated with atopic cataracts
  • certain genetic variants in IFNGR1 genes may be associated with TB development
  • paternal uniparental isodisomy of chromosome 6 causing mycobacterial disease suceptibility with primary immunodeficiency
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS