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FLASH GENE
Symbol IFNGR2 contributors: mct - updated : 11-07-2015
HGNC name interferon gamma receptor 2 (interferon gamma transducer 1)
HGNC id 5440
Corresponding disease
IFNGR2D IFN gamma-receptor 2 deficiency
Location 21q22.11      Physical location : 34.775.201 - 34.809.827
Synonym name
  • interferon gamma transducer 1
  • interferon gamma receptor accessory factor 1
  • IFN-gamma receptor 2
  • interferon-gamma receptor beta chain precursor9
  • Synonym symbol(s) IFNT1, EVI160, AF1-IFGR2, AF1, IFGR2, IFNGT1
    DNA
    TYPE functioning gene
    STRUCTURE 34.63 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    C21orf63 21q22.11 chromosome 21 open reading frame 63 C21orf77 21q22.11 chromosome 21 open reading frame 7 TCP10L 21q22.11 t-complex 10 (mouse)-like C21orf59 21q22.1 chromosome 21 open reading frame 59 LOC391279 21 similar to putative taste receptor HTR2 SYNJ1 21q22.1-q22.2 synaptojanin 1 C21orf66 21q22.11 chromosome 21 open reading frame 66 C21orf62 21q22.1 chromosome 21 open reading frame 62 OLIG2 21q22.11 oligodendrocyte lineage transcription factor 2 C21orf54 21q22.11 chromosome 21 open reading frame 54 IFNAR2 21q22.1 interferon (alpha, beta and omega) receptor 2 IL10RB 21q22.1-q22.2 interleukin 10 receptor, beta IFNAR1 21q22.1 interferon (alpha, beta and omega) receptor 1 IFNGR2 21q22.1 interferon gamma receptor 2 (interferon gamma transducer 1) C21orf4 21q22.1-q22.2 chromosome 21 open reading frame 4 RPS5L 21q22.11 ribosomal protein S5-like C21orf55 21q22.11 chromosome 21 open reading frame 55 GART 21q22.1 phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase SON 21q22.1-q22.2 SON DNA binding protein DONSON 21q22.1 downstream neighbor of SON CRYZL1 21q22.1 crystallin, zeta (quinone reductase)-like 1 ITSN1 21q22.1-q22.2 intersectin 1 (SH3 domain protein) ATP5O 21q22.1-q22.2 ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein) LOC388819 21 similar to GNGT1 protein MRPS6 21q21.3-q22.1 mitochondrial ribosomal protein S6 SLC5A3 21q22.1 solute carrier family 5 (inositol transporters), member 3 C21orf82 21q22.1 chromosome 21 open reading frame 82
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2234 - 337 - 1994 8124717
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinepancreas   highly
    Nervousbrain   highly Homo sapiens
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte Homo sapiens
    Nervousglia Homo sapiens
    Nervousoligodendrocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two fibronectin type 3 domains
  • C-terminal region (AAs 296-337) contains a novel BAX inhibitory domain, and has antiapoptotic activity as a BAX inhibitor
  • HOMOLOGY
    Homologene
    FAMILY
  • type II cytokine receptor family
  • CATEGORY signaling cytokine , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,vesicle
    text located in large vesicles in the cytoplasm, with perinuclear localization typical of the secretory pathway
    basic FUNCTION
  • accessory factor, required for signal transduction
  • associates with ANXA5 and regulates IFN-gamma signaling
  • influence of a mutation in IFNGR2 in human cells on the generation of Th17 cells in memory T cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the IFNgamma receptor complex along with the IFNgammaR alpha chain (IFNgammaR1)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BAX suppressor
  • interacting with ANXA5
  • JAK2 is a critical factor that stabilizes IFNGR2 surface expression in Th17 cells from active multiple sclerosis (AMS) patients, making them sensitive to IFNG
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IFNGR2D
    Susceptibility
  • to liver fibrosis in patients with chronic hepatitis C infection
  • to tuberculosis (TB)
  • Variant & Polymorphism SNP
  • two SNPs in strong linkage disequilibrium (LD) in IFNGR2 were significantly associated with liver fibrosis in patients with chronic hepatitis C infection
  • polymorphisms of IFNGR2 may confer resistance to the TB development of newly infected individuals
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS