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IFNGR1 Gene

protein-coding   GIFtS: 71
GCID: GC06M137518

Interferon Gamma Receptor 1


(Previous symbol: IFNGR)
  See IFNGR1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Interferon Gamma Receptor 11 2     CD1192
IFNGR1 2     Antiviral Protein, Type 22
CDw1192 3     AVP, Type 22
IFN-gamma-R12 3     Immune Interferon Receptor 12
CD119 Antigen2 3     Interferon-Gamma Receptor Alpha Chain2
IFN-Gamma Receptor 12 3     

External Ids:    HGNC: 54391   Entrez Gene: 34592   Ensembl: ENSG000000276977   OMIM: 1074705   UniProtKB: P152603   
ORGUL members:         

Export aliases for IFNGR1 gene to outside databases

Previous GC identifers: GC06M137141 GC06M137365 GC06M137499 GC06M137560 GC06M135080


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IFNGR1 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)

GeneCards Summary for IFNGR1 Gene:
IFNGR1 (interferon gamma receptor 1) is a protein-coding gene. Diseases associated with IFNGR1 include paratyphoid fever, and familial atypical mycobacteriosis, ifngr1-related. GO annotations related to this gene include cytokine binding and interferon-gamma receptor activity.

UniProtKB/Swiss-Prot: INGR1_HUMAN, P15260
Function: Receptor for interferon gamma. Two receptors bind one interferon gamma dimer

Gene Wiki entry for IFNGR1 (Interferon gamma receptor 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IFNGR1 gene promoter:
         STAT1   AML1a   p53   FOXO4   STAT3   HNF-4alpha2   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIFNGR1 promoter sequence
   Search Chromatin IP Primers for IFNGR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IFNGR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q23.3   Ensembl cytogenetic band:  6q23.3   HGNC cytogenetic band: 6q23-q24

IFNGR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFNGR1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M137518:  view genomic region     (about GC identifiers)

Start:
137,518,621 bp from pter      End:
137,540,586 bp from pter
Size:
21,966 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: INGR1_HUMAN, P15260 (See protein sequence)
Recommended Name: Interferon gamma receptor 1 precursor  
Size: 489 amino acids; 54405 Da
Subunit: Monomer
3 PDB 3D structures from and Proteopedia for IFNGR1:
1FG9 (3D)        1FYH (3D)        1JRH (3D)    
Secondary accessions: E1P587 Q53Y96

Explore the universe of human proteins at neXtProt for IFNGR1: NX_P15260

Explore proteomics data for IFNGR1 at MOPED

Post-translational modifications: 

  • Phosphorylated at Ser/Thr residues1
  • Ubiquitination2 at Lys115, Lys279, Lys285, Lys299
  • Glycosylation2 at Asn34, Asn79, Asn86, Asn179, Asn240
  • Modification sites at PhosphoSitePlus

  • See IFNGR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000407.1  
    ENSEMBL proteins: 
     ENSP00000356713   ENSP00000389249   ENSP00000394230   ENSP00000443282   ENSP00000356709  
    Reactome Protein details: P15260

    IFNGR1 Human Recombinant Protein Products:

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    OriGene Purified Protein for IFNGR1
    OriGene Protein Over-expression Lysate for IFNGR1
    OriGene MassSpec for IFNGR1
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    GenScript Purified and Recombinant Proteins for IFNGR1
    Novus Biologicals IFNGR1 Proteins
    Novus Biologicals IFNGR1 Lysates
    Sino Biological Recombinant Protein for IFNGR1
    Sino Biological Cell Lysate for IFNGR1
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for IFNGR1 

     
    antibodies-online proteins for IFNGR1 (7 products) 

     
    antibodies-online peptides for IFNGR1

    IFNGR1 Antibody Products:

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    antibodies-online antibodies for IFNGR1 (92 products) 

    IFNGR1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
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    antibodies-online kits for IFNGR1 (7 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    IFN: Interferons

    IUPHAR Guide to PHARMACOLOGY protein family classification: Interferon gamma receptor 1
    Interferon receptor family

    4 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR008355 Interferon_gamma_rcpt_asu
     IPR021126 Interferon_gamma_pox/mammal

    Graphical View of Domain Structure for InterPro Entry P15260

    ProtoNet protein and cluster: P15260

    1 Blocks protein domain: IPB008355 Interferon-gamma receptor alpha chain signature

    UniProtKB/Swiss-Prot: INGR1_HUMAN, P15260
    Similarity: Belongs to the type II cytokine receptor family
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains


    Find genes that share domains with IFNGR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: INGR1_HUMAN, P15260
    Function: Receptor for interferon gamma. Two receptors bind one interferon gamma dimer

         Genatlas biochemistry entry for IFNGR1:
    interferon gamma,receptor 1 (binding subunit),96kDa,ubiquitously expressed,secreted by natural killer (NK) and T
    lymphocytes,with a small deletion hotspot

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004906interferon-gamma receptor activity TAS2971451
    GO:0005515protein binding IPI15780933
    GO:0019955cytokine binding IEA--
         
    Find genes that share ontologies with IFNGR1           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Ifngr1) (see all 17):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  mortality/aging  nervous system  renal/urinary system  reproductive system 

    Find genes that share phenotypes with IFNGR1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ifngr1tm1Agt for IFNGR1

       genOway: Develop your customized and physiologically relevant rodent model for IFNGR1

    miRNA
    Products:
        
    miRTarBase miRNAs that target IFNGR1:
    hsa-mir-196a-5p (MIRT048216), hsa-mir-98-5p (MIRT027722), hsa-mir-155-5p (MIRT005032), hsa-mir-181b-5p (MIRT047257)

    Block miRNA regulation of human, mouse, rat IFNGR1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate IFNGR1:
    hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidIFNGR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for IFNGR1
    Predesigned siRNA for gene silencing in human, mouse, rat IFNGR1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for IFNGR1

    Clone
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    OriGene clones in human, mouse for IFNGR1 (see all 8)
    OriGene ORF clones in mouse, rat for IFNGR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IFNGR1 (NM_000416)
    Sino Biological Human cDNA Clone for IFNGR1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IFNGR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFNGR1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for IFNGR1
    Browse ESI BIO Cell Lines and PureStem Progenitors for IFNGR1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFNGR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    INGR1_HUMAN, P15260: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    nucleus2
    cytosol1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS2971451
    GO:0014069postsynaptic density IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with IFNGR1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IFNGR1 About   (see all 24)  
    See pathways by source

    SuperPathContained pathways About
    1Immune response IFN gamma signaling pathway
    IFN-gamma pathway0.43
    Immune response IFN gamma signaling pathway0.43
    2Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59
    Regulation of IFNG signaling0.00
    3Leishmaniasis
    Leishmaniasis0.35
    Inflammatory bowel disease (IBD)0.34
    Toxoplasmosis0.35
    4Influenza A
    Influenza A0.34
    Herpes simplex infection0.33
    Measles0.34
    5Cellular Transformation by HTLV1
    Cellular Transformation by HTLV10.31
    Activation of NF-KappaB by PKR0.31


    Find genes that share SuperPaths with IFNGR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for IFNGR1
        Th1 Differentiation

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for IFNGR1 (see all 10)
        THC Differentiation Pathway
    HMGB1 Pathway
    Interferon Pathway
    JAK-STAT Pathway
    Cellular Transformation by HTLV1

    2 GeneGo (Thomson Reuters) Pathways for IFNGR1
        Immune response Bacterial infections in normal airways
    Immune response IFN gamma signaling pathway

    2 BioSystems Pathways for IFNGR1
        Type II interferon signaling (IFNG)
    IFN-gamma pathway


    2 Reactome Pathways for IFNGR1
        Interferon gamma signaling
    Regulation of IFNG signaling


    Selected Kegg Pathways  (Kegg details for IFNGR1) (see all 14):
        Cytokine-cytokine receptor interaction
    HIF-1 signaling pathway
    Osteoclast differentiation
    Jak-STAT signaling pathway
    Natural killer cell mediated cytotoxicity

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFNGR1: 
              Innate & Adaptive Immune Responses in human mouse rat
              Interferons & Receptors in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IFNGR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for IFNGR1 (P152601, 2, 3 ENSP000003567134) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STAT1P422241, 2, 3, ENSP000003543944EBI-1030755,EBI-1057697 MINT-8025959 MINT-8026004 MINT-8025989 MINT-8025974 MINT-8025914 MINT-8025899 I2D: score=5 STRING: ENSP00000354394
    IFNGP015793, ENSP000002291354I2D: score=5 STRING: ENSP00000229135
    IFNGR2P384843, ENSP000002902194I2D: score=3 STRING: ENSP00000290219
    SOCS1O155243, ENSP000003294184I2D: score=3 STRING: ENSP00000329418
    PTPN11Q061243, ENSP000003409444I2D: score=2 STRING: ENSP00000340944
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS2971451
    GO:0009615response to virus TAS2954953
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0060333interferon-gamma-mediated signaling pathway TAS--
    GO:0060334regulation of interferon-gamma-mediated signaling pathway TAS--

    Find genes that share ontologies with IFNGR1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IFNGR1 (INGR1)

    1 DrugBank Compound for IFNGR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Interferon gamma-1bIFN-gamma (see all 3)82115-62-6targetbinder17251453 17618444 11752352

    7 Novoseek inferred chemical compound relationships for IFNGR1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    indole 33.7 1 14988219 (1)
    gp 130 23.5 1 11815625 (1)
    phorbol 19.8 2 11477089 (1), 17339358 (1)
    deferoxamine 10.4 1 16837131 (1)
    oxygen 0 2 18787531 (1)
    iron 0 2 18795672 (1), 15626737 (1)
    tyrosine 0 4 11574475 (1), 9462485 (1), 16914098 (1)



    Find genes that share compounds with IFNGR1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IFNGR1 gene: 
    NM_000416.2  

    Unigene Cluster for IFNGR1:

    Interferon gamma receptor 1
    Hs.520414  [show with all ESTs]
    Unigene Representative Sequence: AK127636
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367739(uc011edm.1 uc003qho.2) ENST00000458076 ENST00000414770
    ENST00000478333 ENST00000543628 ENST00000367735(uc011edn.1)
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate IFNGR1:
    hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidIFNGR1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: IFNGR1 (NM_000416)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IFNGR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFNGR1
    Primer
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    OriGene qPCR primer pairs and template standards for IFNGR1
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      QuantiTect SYBR Green Assays in human, mouse, rat IFNGR1
      QuantiFast Probe-based Assays in human, mouse, rat IFNGR1

    Additional mRNA sequence: 

    AF056979.1 AK127636.1 AK222803.1 AK294252.1 AK297052.1 AK312674.1 BC005333.1 BT006814.1 
    EF173879.1 EF535103.1 J03143.1 

    12 DOTS entries:

    DT.87017394  DT.425439  DT.92437962  DT.95102101  DT.121369508  DT.100652243  DT.100726470  DT.100849002 
    DT.121369520  DT.121369536  DT.87010958  DT.95299815 

    Selected AceView cDNA sequences (see all 320):

    BM726674 BQ636658 BU678063 BF002787 N55028 CF552428 AA010885 BM970001 
    BU192287 BI911121 W86570 AA361448 BM979324 AA356717 BX397620 CB306631 
    BU685869 AL710986 BQ695057 BU147577 AL708361 CR601864 AA843538 CA448414 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IFNGR1 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b
    SP1:                          -     -     -     -     -           -                                   -                           
    SP2:                          -     -     -     -     -           -     -                             -                           
    SP3:                                -     -           -           -                                                               
    SP4:                          -     -     -           -           -                                                               
    SP5:                          -     -     -     -                 -                                                               


    ECgene alternative splicing isoforms for IFNGR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    IFNGR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGCGTAAA
    IFNGR1 Expression
    About this image


    IFNGR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Epithelial Cells
             Podocytes Podocyte Layer
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             Podocytes Podocyte Layer
     
     Cartilage (Muscoskeletal System)
             Meckel's Cartilage
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    IFNGR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IFNGR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520414
        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFNGR1: 
              Innate & Adaptive Immune Responses in human mouse rat
              Interferons & Receptors in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for IFNGR1
    OriGene qSTAR qPCR primer pairs in human, mouse for IFNGR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IFNGR1
    QuantiTect SYBR Green Assays in human, mouse, rat IFNGR1
    QuantiFast Probe-based Assays in human, mouse, rat IFNGR1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFNGR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for IFNGR1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ifngr11 , 5 interferon gamma receptor 11, 5 66.38(n)1
    51.83(a)1
      10 (8.49 cM)5
    159791  NM_010511.21  NP_034641.11 
     195919495 
    chicken
    (Gallus gallus)
    Aves IFNGR11 interferon gamma receptor 1 48.23(n)
    34.54(a)
      421685  NM_001130387.1  NP_001123859.1 
    lizard
    (Anolis carolinensis)
    Reptilia IFNGR16
    interferon gamma receptor 1
    30(a)
    1 ↔ 1
    GL343200.1(1918299-1950636)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ifngr11 interferon gamma receptor 1 48.19(n)
    35.44(a)
      780275  NM_001079346.2  NP_001072814.2 


    ENSEMBL Gene Tree for IFNGR1 (if available)
    TreeFam Gene Tree for IFNGR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    INGR1_HUMAN, P15260: A genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori
    infection [MIM:600263]


    Selected SNPs for IFNGR1 (see all 650)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0175774
    Mendelian susceptibility to mycobacterial disease (MSMD)4--see VAR_0175772 C Y mis40--------
    VAR_0175784
    Mendelian susceptibility to mycobacterial disease (MSMD)4--see VAR_0175782 I T mis40--------
    rs1048939731,2
    Cpathogenic1137527845(-) TAATAC/TTTCTG 2 T I mis10--------
    rs1048939741,2
    Cpathogenic1137527875(-) TGCCTA/GCATCA 2 Y C mis10--------
    rs171753501,2,,4
    C,F,Hprobable-non-pathogenic1137519994(-) CATGCA/CTACCG 2 H P mis1 ese38Minor allele frequency- C:0.01NS NA 5350
    rs412889811,2
    C,Fprobable-non-pathogenic1137525985(+) GTTTCG/AGGATC 2 /P syn13Minor allele frequency- A:0.01NA EU 5991
    rs171814711,2
    C,Fprobable-non-pathogenic1137540877(-) GGTGTG/AAGCAG 2 /V syn16Minor allele frequency- A:0.00NS NA EU 5483
    rs1219131911,2
    Cuntested1137519078(-) TAATTC/TAAACT 1 -- ut310--------
    rs1219131891,2
    Cuntested1137519388(-) AAAGCA/GTAAAG 1 -- ut310--------
    rs1219131861,2
    Cuntested1137519964(-) GGAACA/GTACAG 2 H R mis10--------

    HapMap Linkage Disequilibrium report for IFNGR1 (137518621 - 137540586 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for IFNGR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1157499CNV Insertion17803354
    nsv886688CNV Loss21882294
    nsv886689CNV Loss21882294
    nsv470863CNV Loss18288195
    esv32557CNV Loss17666407
    nsv886690CNV Gain21882294
    dgv2012e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): IFNGR1
    Locus Specific Mutation Databases (LSDB): IFNGR1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IFNGR1
    DNA2.0 Custom Variant and Variant Library Synthesis for IFNGR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 107470   
    OMIM disorders: 209950  600263  607948  610424  
    UniProtKB/Swiss-Prot: INGR1_HUMAN, P15260
  • Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]: This rare condition confers
    predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin
    (BCG) vaccine and 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. The
    pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity
    determines the clinical outcome. 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. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant
    or X-linked inheritance. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for IFNGR1 (see all 27):    
    About MalaCards
    paratyphoid fever    familial atypical mycobacteriosis, ifngr1-related    tuberculosis    mycobacterium avium complex disease
    autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency    bcg infection, generalized familial    mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency    mycobacterium tuberculosis infection, protection against
    bcg and salmonella infection, disseminated    autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency    hepatitis b virus infection    h. pylori infection
    coccidioidomycosis    typhoid fever    mycobacterial and salmonella infections    osteomyelitis
    pulmonary tuberculosis    lymphadenitis    atypical mycobacteriosis, familial    lepromatous leprosy

    3 diseases from the University of Copenhagen DISEASES database for IFNGR1:
    Tuberculosis     Osteomyelitis     Mycobacterium avium complex disease

    Find genes that share disorders with IFNGR1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for IFNGR1 gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mycobacterial infection 85.7 16 17514500 (2), 11139207 (1), 16602008 (1), 11020837 (1) (see all 12)
    immune disorder 48.2 4 10811850 (1), 12165204 (1), 9355958 (1)
    tuberculosis 46 23 17339358 (5), 12753505 (3), 9389728 (3), 18702743 (2) (see all 10)
    osteomyelitis 43.3 4 11865431 (2), 11139207 (1), 19880337 (1)
    immunodeficiency 40 8 11139207 (1), 12805054 (1), 17513528 (1), 15589309 (1) (see all 5)
    tuberculosis pulmonary 37.2 7 17392024 (2), 17023216 (1), 15047947 (1), 17339358 (1) (see all 6)
    genetic susceptibility 36.8 1 15661020 (1)
    schistosomiasis 28.2 2 15830877 (2)
    granuloma 27.6 6 9389728 (2), 18972195 (1), 12804068 (1)
    infectious disease 23.1 1 17136124 (1)

    Genatlas disease: IFNGR1
    susceptibility to BCG and non tuberculous mycobacterial infections (interferon gamma,receptor 1
    deficiency),severe form,associated with a defect in mature granulomas in patients with complete
    deficiency,familial or sporadic

    Genetic Association Database (GAD): IFNGR1
    Human Genome Epidemiology (HuGE) Navigator: IFNGR1 (72 documents)

    Export disorders for IFNGR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IFNGR1 gene, integrated from 10 sources (see all 267):
    (articles sorted by number of sources associating them with IFNGR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic polymorphisms in the promoter of the interferon gamma receptor 1 gene are associated with atopic cataracts. (PubMed id 17251453)1, 4, 7, 9 Matsuda A....Kinoshita S. (amp 2007)
    2. The interferon-gamma receptor gene polymorphisms (Val14Met and Gln64Arg) are not associated with systemic lupus erythematosus in Chinese patients. (PubMed id 17618444)1, 4, 7, 9 Yao X....Liu J. (Arch. Dermatol. Res. 2007)
    3. Genomewide linkage analysis identifies polymorphism in the human interferon-gamma receptor affecting Helicobacter pylori infection. (PubMed id 12516030)1, 2, 4, 9 Thye T.... Horstmann R.D. (Am. J. Hum. Genet. 2003)
    4. Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea. (PubMed id 12743658)1, 4, 9 Lee S.B....Chae G.T. (Immunogenetics 2003)
    5. No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample. (PubMed id 15047947)1, 4, 9 Awomoyi A.A....Newport M.J. (Thorax 2004)
    6. Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. (PubMed id 9389728)1, 2, 9 Jouanguy E.... Casanova J.-L. (J. Clin. Invest. 1997)
    7. A regulatory polymorphism in interferon-gamma receptor 1 promoter is associated with the susceptibility to chronic hepatitis B virus infection. (PubMed id 19488747)1, 4, 9 Zhou J....Zheng B.J. (Immunogenetics 2009)
    8. Polymorphisms of interferon-gamma and interferon-gamma receptor 1 genes and pulmonary tuberculosis in Koreans. (PubMed id 17986123)1, 4, 9 Hwang J.H....Koh W.J. (Respirology 2007)
    9. IFNGR1 single nucleotide polymorphisms in rheumatoid arthritis. (PubMed id 16563189)1, 4, 9 Mattyasovszky S....Schulze-Koops H. (amp 2006)
    10. Lack of association between interferon-gamma receptor-1 polymorphism and pulmonary TB in Iranian population sample. (PubMed id 16233916)1, 4, 9 Mirsaeidi S.M....Masjedi M.R. (J. Infect. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3459 HGNC: 5439 AceView: IFNGR1 Ensembl:ENSG00000027697 euGenes: HUgn3459
    ECgene: IFNGR1 Kegg: 3459 H-InvDB: IFNGR1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IFNGR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IFNGR1 Genetics and Cytogenetics in Oncology and Haematology
    IFNGR1basehttp://bioinf.uta.fi/IFNGR1base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=IFNGR1[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/ifngr1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IFNGR1 gene:
    Search GeneIP for patents involving IFNGR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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