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FLASH GENE
Symbol IFNGR1 contributors: mct - updated : 05-09-2017
HGNC name interferon gamma receptor 1
HGNC id 5439
Corresponding disease
IMD27A Immunodeficiency 27A
Location 6q23.3      Physical location : 137.518.620 - 137.540.567
Synonym symbol(s) IFNGR, CD119, IMD27A, IMD27B, FLJ45734
DNA
TYPE functioning gene
STRUCTURE 22.87 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure polymorphism in the promoter region of IFNGR1 (encoding interferon-gamma receptor 1) that has opposite functional effects in different cellular contexts
MAPPING cloned Y linked   status confirmed
Map cen - D6S292 - D6S314 - D6S1009 - IFNGR1 - D6S1319 - D6S310 /D6S1587 - D6S1569 /D6S1699 - qter
Authors Merlin (97)
Physical map
MYB 6q23.3-q24 v-myb myeloblastosis viral oncogene homolog (avian) AHI1 6q23.2 Abelson helper integration site LOC391973 6 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) PDE7B 6q23-q24 phosphodiesterase 7B DUFD1 6q23.2 DUF729 domain containing 1 BTF 6q23 DUF729 domain containing 1 MAP7 6q23.3 microtubule-associated protein 7 MAP3K5 6q22.33 mitogen-activated protein kinase kinase kinase 5 PEX7 6q21-q22.2 peroxisomal biogenesis factor 7 SLC35D3 6q23.2 solute carrier family 35, member D3 IL20RA 6q23.3 interleukin 20 receptor, alpha IL22RA2 6q24-q25.1 interleukin 22 receptor, alpha 2 IFNGR1 6q23-q24 interferon gamma receptor 1 OLIG3 6q23.3 oligodendrocyte transcription factor 3 LOC391974 6 similar to RIKEN cDNA 5730434I03 gene LOC134897 6q23.3 similar to protein tyrosine phosphatase TNFAIP3 6q23-q25 tumor necrosis factor, alpha-induced protein 3 PERP 6q24 PERP, TP53 apoptosis effector PBOV1 6q23-q24 prostate and breast cancer overexpressed 1 KIAA1244 6q23.3 KIAA1244 HEBP2 6q24 heme binding protein 2 KIAA1357 6q23.3 KIAA1357 protein LOC389430 6 LOC389430 C6orf80 6q23.1-q24.1 chromosome 6 open reading frame 80 CCRL1P 6q23.3 chemokine (C-C motif) receptor-like 1 pseudogene LOC345930 6q23.3 similar to Ect2 protein REPS1 6q23.1-24.1 RALBP1 associated Eps domain containing 1 C6orf115 6q24.1 chromosome 6 open reading frame 115
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 2138 - 489 - 2016 27356097
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveesophagus   highly
 pharynx   highly
Lymphoid/Immunespleen   moderately
Nervousbrain   moderately
 nerve   highly
Reproductivefemale systemplacenta  moderately
Urinarybladder   highly
Visualeye   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Lymphoid    
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunelymphocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a cytoplasmic domain
  • two fibronectin type-III domains
  • two Ig-like C2-type (immunoglobulin-like) domains
  • a IFNGR1 270-LI-271 dileucine motif, previously thought to be involved in this receptor endocytosis, showed to be unnecessary for receptor endocytosis
  • the YDKPH sequence near the C-terminus, required for IFNG-dependent cellular responses through STAT1 binding
  • mono polymer monomer
    HOMOLOGY
    interspecies homolog to rattus Ifngr (51.30 pc)
    homolog to murine Ifngr1 (53.55 pc)
    Homologene
    FAMILY type II cytokine receptor family
    CATEGORY signaling cytokine , receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text secreted by natural killer (NK) and T lymphocytes
    basic FUNCTION
  • ligand-binding chain (alpha) of the heterodimeric gamma interferon receptor
  • host IFNGR1 signaling controls the magnitude of CD8(+) T cell responses and subsequent memory differentiation under lymphopenic and nonlymphopenic conditions
  • IFNGR1 signaling regulates autoimmune, but not the foreign antigen-driven, germinal centers and T helper cell (TFH cell) responses
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component constituent of transmembrane
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • endogenous STAT1 and IFNGR1 in target cells are indispensable to sustain the activation of STAT1 signaling by extracellular vesicles (EVs)-associated IFNG/IFNGR1 complexes
  • cell & other
    REGULATION
    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