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

    Gene ID: 3460, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:5440
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 30.0), appendix (RPKM 25.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IFNGR2 in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33402882..33437516)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31775143..31809789)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34775188..34809823)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene IFNAR2-IL10RB readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18374 Neighboring gene interleukin 10 receptor subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:34676441-34676940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13255 Neighboring gene IFNAR1 promoter region Neighboring gene interferon alpha and beta receptor subunit 1 Neighboring gene upstream transcription factor 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 14728 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:34738709-34739908 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:34752348-34753547 Neighboring gene Sharpr-MPRA regulatory region 6397 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:34758349-34758554 Neighboring gene IFNGR2 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13259 Neighboring gene CRISPRi-FlowFISH-validated IFNGR2 regulatory element GRCh37_chr21:34776289-34777452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:34784507-34785261 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:34785395-34785563 Neighboring gene transmembrane protein 50B Neighboring gene RPS5 pseudogene 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C28

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation. Moncada-Vélez M, et al. Blood, 2013 Oct 3. PMID 23963039, Free PMC Article
    2. Abnormalities in intracellular processing and expression of interferon-gamma receptor in adherent cells from lepromatous leprosy patients. Guerrero-Velázquez C, et al. J Interferon Cytokine Res, 2010 Feb. PMID 20039824
    3. Differential expression of interferon-gamma receptor on human glial cells in vivo and in vitro. Hashioka S, et al. J Neuroimmunol, 2010 Aug 25. PMID 20554027
    4. Expression of IFNγR2 mutated in a dileucine internalization motif reinstates IFNγ signaling and apoptosis in human T lymphocytes. Boselli D, et al. Immunol Lett, 2010 Nov 30. PMID 20709103
    5. Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease. Kong XF, et al. Hum Mol Genet, 2013 Feb 15. PMID 23161749, Free PMC Article

    See all (108) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impact of coding risk variant IFNGR2 on the B cell-intrinsic IFN-gamma signaling pathway in multiple sclerosis.
      Title: Impact of coding risk variant IFNGR2 on the B cell-intrinsic IFN-γ signaling pathway in multiple sclerosis.
    2. CircIFNGR2 enhances proliferation and migration of CRC and induces cetuximab resistance by indirectly targeting KRAS via sponging to MiR-30b.
      Title: CircIFNGR2 enhances proliferation and migration of CRC and induces cetuximab resistance by indirectly targeting KRAS via sponging to MiR-30b.
    3. Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes.
      Title: Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes.
    4. A purely quantitative form of partial recessive IFN-gammaR2 deficiency caused by mutations of the initiation or second codon.
      Title: A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
    5. Successful unrelated cord blood transplant for complete IFN-gamma receptor 2 deficiency.
      Title: Successful unrelated cord blood transplant for complete IFN-γ receptor 2 deficiency.
    6. A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations
      Title: A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations.
    7. The study identified an SNP rs9978223 on IFNGR2 gene, associated with increased risk in acute myocardial infarctionpatient from India.
      Title: Identification of a single nucleotide polymorphism indicative of high risk in acute myocardial infarction.
    8. A crystal structure of the extracellular part of human interferon-gamma receptor 2 (IFNGR2) was solved by molecular replacement at 1.8 A resolution.
      Title: Crystal structure of human interferon-γ receptor 2 reveals the structural basis for receptor specificity.
    9. Data suggest IFNG plays various roles in dynamics of inflammation in subjects with underlying autoimmunity modeled as "canonical" and "non-canonical" pathways; in canonical pathway, IFNG dimerizes and binds to IFNGR1 in IFNGR1/IFNGR2 hetero-multimer; STAT transcription factors are involved in non-canonical pathway. (IFNG = interferon gamma; IFNGR = IFNG receptor; STAT = signal transducers and activators of transcription)
      Title: Current prospects of type II interferon γ signaling and autoimmunity.
    10. The IFNGR2Q64R polymorphism is correlated with male sex and paranoid schizophrenia in Tunisians.
      Title: IFNGR2 genetic polymorphism associated with sex-specific paranoid schizophrenia risk.
    Submit: New GeneRIF Correction See all GeneRIFs (50)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables type II interferon receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to virus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in microglial cell activation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to virus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in type II interferon-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in type III interferon-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum HDA PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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

    NCBI Reference Sequences (RefSeq)

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    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_001329128.2 → NP_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
      A0A0G2JLD7, E7EUY1
      Related
      ENSP00000371425.1, ENST00000381995.5
      Conserved Domains (1) summary
      cl21522
      Location:47 → 145
      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_005534.4 → NP_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)
      AK292246, BC003624, CB992729, U05875
      Consensus CDS
      CCDS33544.1
      UniProtKB/Swiss-Prot
      P38484, Q9BTL5
      UniProtKB/TrEMBL
      A0A0G2JLE8, A8K881
      Related
      ENSP00000290219.5, ENST00000290219.11
      Conserved Domains (1) summary
      cl21522
      Location:28 → 126
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      33402882..33437516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315970.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      5405..32088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      31775143..31809789
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P38484.2 GenPept UniProtKB/Swiss-Prot:P38484

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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