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    IFNGR2 interferon gamma receptor 2 [ Homo sapiens (human) ]

    Gene ID: 3460, updated on 5-Nov-2017
    Official Symbol
    IFNGR2provided by HGNC
    Official Full Name
    interferon gamma receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:5440
    See related
    Ensembl:ENSG00000159128 MIM:147569; Vega:OTTHUMG00000065188
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AF-1; IFGR2; IMD28; IFNGT1
    Summary
    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]
    Orthologs
    Location:
    21q22.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 21 NC_000021.9 (33402896..33437521)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34775202..34809828)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene interleukin 10 receptor subunit beta Neighboring gene interferon alpha and beta receptor subunit 1 Neighboring gene upstream transcription factor 1 pseudogene 1 Neighboring gene transmembrane protein 50B Neighboring gene ribosomal protein S5 pseudogene 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C28

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Immunodeficiency 28
    MedGen: C4013947 OMIM: 614889 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
    NHGRI GWA Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    NHGRI GWA Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The mRNA expression levels for alpha-tubulin, TRADD, IFN-gamma R2, GAS1, MADD, NF-kappaB, I-kappa B, 14-3-3 protein, APaf1, PARP, IGF-1 receptor, RB1, Rb2/p130, ARC, and caspase 6 are upregulated in human neuronal cells after treatment with HIV-1 gp120 PubMed

    Go to the HIV-1, Human Interaction Database

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    interferon-gamma receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    interleukin-10 receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    regulation of interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    response to virus TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    interferon gamma receptor 2
    Names
    IFN-gamma receptor 2
    IFN-gamma-R-beta
    IFN-gamma-R2
    interferon gamma receptor accessory factor-1
    interferon gamma receptor beta chain
    interferon gamma transducer 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007570.2 RefSeqGene

      Range
      22904..57530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_67

    mRNA and Protein(s)

    1. NM_001329128.1NP_001316057.1  interferon gamma receptor 2 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP000299, AP000300, BQ008968
      Consensus CDS
      CCDS82660.1
      UniProtKB/TrEMBL
      E7EUY1
      Conserved Domains (1) summary
      cl21522
      Location:47145
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    2. NM_005534.3NP_005525.2  interferon gamma receptor 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_005525.2

      Status: REVIEWED

      Source sequence(s)
      AI824138, AK292246, BC003624, BG391103, CB992729, U05875
      Consensus CDS
      CCDS33544.1
      UniProtKB/Swiss-Prot
      P38484
      UniProtKB/TrEMBL
      A8K881
      Related
      ENSP00000290219.5, OTTHUMP00000067750, ENST00000290219.10, OTTHUMT00000139916
      Conserved Domains (1) summary
      cl21522
      Location:28126
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

      Range
      33402896..33437521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260969.2XP_005261026.1  interferon gamma receptor 2 isoform X2

      Related
      ENSP00000371425.1, OTTHUMP00000067751, ENST00000381995.5, OTTHUMT00000139917
      Conserved Domains (1) summary
      cl21522
      Location:47145
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    2. XM_011529553.1XP_011527855.1  interferon gamma receptor 2 isoform X1

      Conserved Domains (1) summary
      cl21522
      Location:53151
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    3. XM_011529554.2XP_011527856.1  interferon gamma receptor 2 isoform X3

      Conserved Domains (1) summary
      cl21522
      Location:30128
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NW_003315970.2 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      9451..32093
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      34337541..34372485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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