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IFNGR2 Gene

protein-coding   GIFtS: 64
GCID: GC21P034757

Interferon Gamma Receptor 2 (Interferon Gamma Transducer...


(Previous symbol: IFNGT1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Interferon Gamma Receptor 2 (Interferon Gamma Transducer 1)1 2     IFN-Gamma Receptor 22 3
IFNGT11 2 3 5     IFGR22 5
Interferon Gamma Receptor Accessory Factor 12 3     Interferon-Gamma Receptor Beta Chain Precursor11
Interferon Gamma Transducer 12 3     Interferon Gamma Receptor 22
AF-12 3     Interferon Gamma Receptor Accessory Factor-12
IFN-gamma-R22 3     Interferon Gamma Receptor Beta Chain2

External Ids:    HGNC: 54401   Entrez Gene: 34602   Ensembl: ENSG000001591287   OMIM: 1475695   UniProtKB: P384843   

Export aliases for IFNGR2 gene to outside databases

Previous GC identifers: GC21P031352 GC21P031435 GC21P033695 GC21P033697 GC21P020243


(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 IFNGR2 Gene:
This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human
interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian
susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial
infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked
inheritance. (provided by RefSeq, Jul 2008)

GeneCards Summary for IFNGR2 Gene:
IFNGR2 (interferon gamma receptor 2 (interferon gamma transducer 1)) is a protein-coding gene. Diseases associated with IFNGR2 include autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency, and mendelian susceptibility to mycobacterial diseases due to complete ifngammar2 deficiency. GO annotations related to this gene include interferon-gamma receptor activity.

UniProtKB/Swiss-Prot: INGR2_HUMAN, P38484
Function: Part of the receptor for interferon gamma. Required for signal transduction. This accessory factor is an
integral part of the IFN-gamma signal transduction pathway and is likely to interact with GAF, JAK1, and/or JAK2




(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IFNGR2 gene promoter:
         Nkx3-1 v2   Nkx3-1 v4   C/EBPbeta   STAT1   AML1a   Nkx3-1 v3   STAT1beta   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): IFNGR2 promoter sequence

   Search Chromatin IP Primers for IFNGR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IFNGR2


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

Entrez Gene cytogenetic band: 21q22.11   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.1
Nature(405: 311-319) cytogenetic band:   21q22.11
IFNGR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFNGR2 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P034757:   GeneLoc Nature:405,311-319
Start:
34,775,202 bp from pter       20,351,850 bp from centromere
End:
34,851,655 bp from pter 20,386,468 bp from centromere
Size:
76,454 bases 34,619 bases
Orientation:
plus strand plus strand

1 alternative location:
Chr21+,NW_003315970 9,452-32,094     

Whole chromosome sequencing:
cDNA sequence: U05875
genomic clones: PQ102G11 PPACB5


(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: INGR2_HUMAN, P38484 (See protein sequence)
Recommended Name: Interferon gamma receptor 2 precursor  
Size: 337 amino acids; 37806 Da
Secondary accessions: Q9BTL5

Explore the universe of human proteins at neXtProt for IFNGR2: NX_P38484

Explore proteomics data for IFNGR2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn56, Asn85, Asn110, Asn137, Asn219, Asn231

  • See IFNGR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005525.2  
    ENSEMBL proteins: 
     ENSP00000290219   ENSP00000407541   ENSP00000371425   ENSP00000442735   ENSP00000385044  
     ENSP00000402629  
    Reactome Protein details: P38484

    IFNGR2 Human Recombinant Protein Products:

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    Sino Biological Cell Lysate for IFNGR2
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    IFNGR2 Antibody Products:

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    IFNGR2 Assay Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    IFN: Interferons

    IUPHAR Guide to PHARMACOLOGY protein family classification: Interferon gamma receptor 2
    Interferon receptor family

    3 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR015373 Interferon_alpha/beta_rcpt_bsu
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry P38484

    ProtoNet protein and cluster: P38484

    UniProtKB/Swiss-Prot: INGR2_HUMAN, P38484
    Similarity: Belongs to the type II cytokine receptor family
    Similarity: Contains 2 fibronectin type-III domains


    IFNGR2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: INGR2_HUMAN, P38484
    Function: Part of the receptor for interferon gamma. Required for signal transduction. This accessory factor is an
    integral part of the IFN-gamma signal transduction pathway and is likely to interact with GAF, JAK1, and/or JAK2

         Genatlas biochemistry entry for IFNGR2:
    interferon gamma receptor 2,56kDa,accessory factor

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004906interferon-gamma receptor activity TAS9616207
    GO:0005515protein binding ----
         
    IFNGR2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IFNGR2:
     Decreased influenza A/WSN/33 r 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ifngr2):
     hematopoietic system  homeostasis/metabolism  immune system 

    IFNGR2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ifngr2tm1Pbro for IFNGR2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IFNGR2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IFNGR2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IFNGR2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IFNGR2

    miRNA
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    miRTarBase miRNAs that target IFNGR2:
    hsa-mir-103a-3p (MIRT027145), hsa-mir-1296-5p (MIRT036154), hsa-mir-15b-5p (MIRT046534), hsa-mir-26b-5p (MIRT030035)

    Block miRNA regulation of human, mouse, rat IFNGR2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate IFNGR2:
    hsa-miR-4255
    SwitchGear 3'UTR luciferase reporter plasmidIFNGR2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for IFNGR2
    Predesigned siRNA for gene silencing in human, mouse, rat IFNGR2

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    GenScript: all cDNA clones in your preferred vector: IFNGR2 (NM_005534)
    Sino Biological Human cDNA Clone for IFNGR2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IFNGR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFNGR2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFNGR2


    (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
    INGR2_HUMAN, P38484: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4
    extracellular2
    lysosome1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA16780588
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8910544

    IFNGR2 for ontologies           About GeneDecksing


    (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 IFNGR2 About   (see all 23)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59
    Regulation of IFNG signaling0.00
    2Leishmaniasis
    Leishmaniasis0.35
    Inflammatory bowel disease (IBD)0.34
    Toxoplasmosis0.35
    3Influenza A
    Influenza A0.34
    Herpes simplex infection0.33
    Measles0.34
    4Immune response Bacterial infections in normal airways
    Immune response Bacterial infections in normal airways0.78
    5TGF-Beta Pathway
    JAK-STAT Pathway0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for IFNGR2
        Th1 Differentiation

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for IFNGR2 (see all 8)
        THC Differentiation Pathway
    HMGB1 Pathway
    Interferon Pathway
    JAK-STAT Pathway
    Cellular Transformation by HTLV1

    2 GeneGo (Thomson Reuters) Pathways for IFNGR2
        Immune response Bacterial infections in normal airways
    Immune response IFN gamma signaling pathway

    1 BioSystems Pathway for IFNGR2
        Type II interferon signaling (IFNG)


    2 Reactome Pathways for IFNGR2
        Interferon gamma signaling
    Regulation of IFNG signaling


    Selected Kegg Pathways  (Kegg details for IFNGR2) (see all 14):
        Cytokine-cytokine receptor interaction
    HIF-1 signaling pathway
    Osteoclast differentiation
    Jak-STAT signaling pathway
    Natural killer cell mediated cytotoxicity


    IFNGR2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFNGR2: 
              Interferons & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Allergy & Asthma in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IFNGR2

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

    Selected Interacting proteins for IFNGR2 (P384843 ENSP000002902194) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IFNGP015793, ENSP000002291354I2D: score=4 STRING: ENSP00000229135
    DNAJA3Q96EY13, ENSP000002623754I2D: score=2 STRING: ENSP00000262375
    NR3C1P041503, ENSP000002315094I2D: score=2 STRING: ENSP00000231509
    JAK2O606743, ENSP000003710674I2D: score=3 STRING: ENSP00000371067
    ANXA5P087583, ENSP000002965114I2D: score=3 STRING: ENSP00000296511
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007166cell surface receptor signaling pathway TAS9616207
    GO:0009615response to virus TAS8124716
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0060333interferon-gamma-mediated signaling pathway TAS--
    GO:0060334regulation of interferon-gamma-mediated signaling pathway TAS--

    IFNGR2 for ontologies           About GeneDecksing



    (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 IFNGR2 (INGR2)

    1 DrugBank Compound for IFNGR2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Interferon gamma-1bIFN-gamma (see all 3)82115-62-6targetbinder17618444 11752352 17239631

    7 Novoseek inferred chemical compound relationships for IFNGR2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    4-hydroxytamoxifen 68.5 2 7721882 (1), 12738788 (1)
    estrogen 62.4 25 7721882 (3), 11075817 (2), 15078875 (2), 11139588 (1) (see all 16)
    tamoxifen 45.5 9 12738788 (2), 20332105 (2), 15060164 (1), 11553641 (1)
    retinoic acid 35.6 3 11741282 (1), 7559520 (1), 10866321 (1)
    steroid 33.6 6 16771709 (1), 8816752 (1), 20332105 (1), 19811234 (1)
    estradiol 27.1 6 20332105 (2), 7721882 (1), 10908317 (1), 8816752 (1)
    testosterone 11.9 5 12039962 (1), 12943705 (1), 17342748 (1), 15215582 (1) (see all 5)



    IFNGR2 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IFNGR2 gene: 
    NM_005534.3  

    Unigene Cluster for IFNGR2:

    Interferon gamma receptor 2 (interferon gamma transducer 1)
    Hs.634632  [show with all ESTs]
    Unigene Representative Sequence: NM_005534
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000290219(uc002yrp.4) ENST00000439213 ENST00000381995 ENST00000545369
    ENST00000405436 ENST00000421802

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate IFNGR2:
    hsa-miR-4255
    SwitchGear 3'UTR luciferase reporter plasmidIFNGR2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat IFNGR2

    Additional mRNA sequence: 

    AK292246.1 AK314005.1 BC003624.2 DQ655977.2 EF173886.1 U05875.1 U05877.1 

    18 DOTS entries:

    DT.453988  DT.100818065  DT.100803533  DT.100818058  DT.121131357  DT.121131351  DT.100818051  DT.95169080 
    DT.95169097  DT.121131352  DT.75158328  DT.100709397  DT.100818060  DT.100837977  DT.121131362  DT.91856358 
    DT.415722  DT.75146865 

    Selected AceView cDNA sequences (see all 482):

    AW877051 AI793330 CR600779 BG235915 CR618682 CD105546 AI424369 F03847 
    BQ574525 BX281997 CR602883 AA370611 BU195495 BE796743 BG749040 CR607841 
    CB155994 Z39908 CR617094 BF002968 BI761719 CR607346 BU520968 U05877 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for IFNGR2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8
    SP1:                    -                                       
    SP2:                                                            
    SP3:                    -     -     -                           
    SP4:        -           -                                       


    ECgene alternative splicing isoforms for IFNGR2

    (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)
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    IFNGR2 expression in normal human tissues (normalized intensities)      IFNGR2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTGCTGGC
    IFNGR2 Expression
    About this image


    IFNGR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
    IFNGR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IFNGR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.634632
        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFNGR2: 
              Interferons & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Allergy & Asthma in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for IFNGR2
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    QuantiFast Probe-based Assays in human, mouse, rat IFNGR2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFNGR2

    (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 IFNGR2 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ifngr21 , 5 interferon gamma receptor 21, 5 68.87(n)1
    61.06(a)1
      16 (53.07 cM)5
    159801  NM_008338.31  NP_032364.11 
     915470725 
    chicken
    (Gallus gallus)
    Aves IFNGR21 interferon gamma receptor 2 (interferon gamma transducer more 48.31(n)
    36.7(a)
      418502  NM_001008676.2  NP_001008676.1 
    lizard
    (Anolis carolinensis)
    Reptilia IFNGR26
    interferon gamma receptor 2 (interferon gamma tran...
    31(a)
    1 ↔ 1
    3(143172671-143181968)


    ENSEMBL Gene Tree for IFNGR2 (if available)
    TreeFam Gene Tree for IFNGR2 (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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    Selected SNPs for IFNGR2 (see all 865)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0232814
    Mendelian susceptibility to mycobacterial disease (MSMD)4--see VAR_0232812 T N mis40--------
    rs743154441,2
    Cpathogenic125346035(+) TGATAA/CCTCCA 2 N T mis10--------
    rs1219131931,2
    Cuntested125330272(+) TGAAAC/TGGAAA 1 -- int10--------
    rs49869581,2,,4
    C,F,Huntested125334043(+) TAGCAC/GGAGGC 2 T R mis136Minor allele frequency- G:0.06MN NA NS EA WA EU 8883
    rs1219131991,2
    Cuntested125340458(+) CCTGCA/GTTTTG 1 -- int10--------
    rs1219132071,2
    Cuntested125345920(+) TGTGGC/TTTTCT 1 -- int10--------
    rs1219132081,2
    C,Funtested125345998(+) CCCTCA/CTCATC 2 I L mis12Minor allele frequency- C:0.00NA EU 5823
    rs1219132091,2
    Cuntested125346042(+) TCCACA/GGCCTT 2 T syn10--------
    rs1219132101,2
    Cuntested125346060(+) TATTAC/TGTCCA 2 Y syn10--------
    rs1219132111,2
    Cuntested125351146(+) GTTGTC/TGTGTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for IFNGR2 (34775202 - 34851655 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for IFNGR2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv913723CNV Loss21882294
    nsv913724CNV Loss21882294
    nsv834087CNV Gain17160897

    Human Gene Mutation Database (HGMD): IFNGR2
    Locus Specific Mutation Databases (LSDB): IFNGR2

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 147569   
    OMIM disorders: 209950  
    UniProtKB/Swiss-Prot: INGR2_HUMAN, P38484
  • 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 IFNGR2 (see all 67):    About MalaCards
    autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency    mendelian susceptibility to mycobacterial diseases due to complete ifngammar2 deficiency    autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency    familial atypical mycobacteriosis, ifngr2-related
    atypical mycobacteriosis, familial    estrogen resistance    lepromatous leprosy    leprosy
    subacute sclerosing panencephalitis    sarcoidosis    pulmonary sarcoidosis    acute graft versus host disease
    cblc    trypanosomiasis    tuberculosis    pulmonary tuberculosis
    toxoplasmosis    dengue hemorrhagic fever    hepatitis b virus infection    chagas disease


    IFNGR2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    8 Novoseek inferred disease relationships for IFNGR2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mycobacterial infection 57.6 1 16951322 (1)
    sezary syndrome 46.9 2 9613981 (1), 8695857 (1)
    asthma allergic 32.3 4 11240951 (2), 19247692 (1), 10491309 (1)
    breast cancer 27.3 2 12738788 (1)
    sarcoidosis 20.9 3 15004750 (1), 17937105 (1)
    tuberculosis 0.401 1 15004750 (1)
    asthma 0 1 19247692 (1)
    tumors 0 4 12738788 (1), 9792714 (1), 11553641 (1)

    Genetic Association Database (GAD): IFNGR2
    Human Genome Epidemiology (HuGE) Navigator: IFNGR2 (44 documents)

    Export disorders for IFNGR2 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 IFNGR2 gene, integrated from 10 sources (see all 176):
    (articles sorted by number of sources associating them with IFNGR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Polymorphisms in the genes encoding interferon-gamma and interferon-gamma receptors in multiple sclerosis. (PubMed id 15182327)1, 4, 9 Schrijver H.M....Uitdehaag B.M. (Eur. J. Immunogenet. 2004)
    3. Analyses of associations with asthma in four asthma population samples from Canada and Australia. (PubMed id 19247692)1, 4, 9 Daley D....Hudson T.J. (Hum. Genet. 2009)
    4. Polymorphism within the interferon-gamma/receptor complex is associated with pulmonary tuberculosis. (PubMed id 16690980)1, 4, 9 Cooke G.S....Hill A.V. (Am. J. Respir. Crit. Care Med. 2006)
    5. Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma. (PubMed id 11240951)1, 4, 9 Nakao F....Hara T. (J. Allergy Clin. Immunol. 2001)
    6. Genetic polymorphism of interferon-gamma, interferon-gamma receptor, and interferon regulatory factor-1 genes in patients with hepatitis B virus infection. (PubMed id 16944293)1, 4, 9 Cheong J.Y....Kim J.H. (Biochem. Genet. 2006)
    7. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. (PubMed id 15924140)1, 2, 9 Vogt G.... Casanova J.-L. (Nat. Genet. 2005)
    8. Interferon-gamma and interferon-gamma receptor 1 and 2 gene polymorphisms and restenosis following coronary stenting. (PubMed id 16115485)1, 4, 9 Tiroch K....Kastrati A. (Atherosclerosis 2005)
    9. Association between IFNA genotype and the risk of sarcoidosis. (PubMed id 15004750)1, 4, 9 Akahoshi M....Shirakawa T. (Hum. Genet. 2004)
    10. Cytokine polymorphisms in Th1/Th2 pathway genes, body mass index, and risk of non-Hodgkin lymphoma. (PubMed id 20952689)1, 4 Chen Y....Zhang Y. (Blood 2011)

    (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: 3460 HGNC: 5440 AceView: IFNGR2 Ensembl:ENSG00000159128 euGenes: HUgn3460
    ECgene: IFNGR2 Kegg: 3460 H-InvDB: IFNGR2

    (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 IFNGR2 Pharmacogenomics, SNPs, Pathways
    IFNGR2basehttp://bioinf.uta.fi/IFNGR2base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=IFNGR2[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/ifngr2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IFNGR2 gene:
    Search GeneIP for patents involving IFNGR2

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



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