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    IFNGR1 interferon gamma receptor 1 [ Homo sapiens (human) ]

    Gene ID: 3459, updated on 14-Nov-2024

    Summary

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    Official Symbol
    IFNGR1provided by HGNC
    Official Full Name
    interferon gamma receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:5439
    See related
    Ensembl:ENSG00000027697 MIM:107470; AllianceGenome:HGNC:5439
    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
    CD119; IFNGR; IMD27A; IMD27B
    Summary
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 51.4), fat (RPKM 48.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IFNGR1 in Genome Data Viewer
    Location:
    6q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (137197484..137219385, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (138385847..138407878, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (137518621..137540522, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:137322965-137323508 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90349 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90351 Neighboring gene interleukin 20 receptor subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17579 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:137382319-137382457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25128 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:137410449-137410629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25131 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90355 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25133 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90359 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90362 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:137492881-137493639 Neighboring gene interleukin 22 receptor subunit alpha 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90370 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:137500946-137502145 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:137540162-137540892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25139 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:137618853-137619479 Neighboring gene uncharacterized LOC105378017 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:137636227-137636827 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:137672426-137672621 Neighboring gene FOXA motif-containing MPRA enhancer 183 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90385 Neighboring gene uncharacterized LOC102723633 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:137744471-137745316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25140

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Single nucleotide polymorphism rs2234711 of interferon gamma receptor 1 is associated with pulmonary tuberculosis in the population of North India.
      Title: Single nucleotide polymorphism rs2234711 of interferon gamma receptor 1 is associated with pulmonary tuberculosis in the population of North India.
    2. Recombinant Klotho attenuates IFNgamma receptor signaling and SAMHD1 expression through blocking NF-kappaB translocation in glomerular mesangial cells.
      Title: Recombinant Klotho attenuates IFNγ receptor signaling and SAMHD1 expression through blocking NF-κB translocation in glomerular mesangial cells.
    3. IFNG and IFNGR1 polymorphisms are associated with tuberculosis: a case-control study.
      Title: IFNG and IFNGR1 polymorphisms are associated with tuberculosis: a case-control study.
    4. Correlation of single-nucleotide polymorphism at interferon-gamma R1 (at Position - 56) in positive purified protein derivative health workers with COVID-19 infection.
      Title: Correlation of single-nucleotide polymorphism at interferon-gamma R1 (at Position - 56) in positive purified protein derivative health workers with COVID-19 infection.
    5. Association between IFNGR1 gene polymorphisms and tuberculosis susceptibility: A meta-analysis.
      Title: Association between IFNGR1 gene polymorphisms and tuberculosis susceptibility: A meta-analysis.
    6. Genetic Variations in IFNGR1, BDNF and IL-10 May Predict the Susceptibility to Depression and Anxiety in Chinese Women With Breast Cancer.
      Title: Genetic Variations in IFNGR1, BDNF and IL-10 May Predict the Susceptibility to Depression and Anxiety in Chinese Women With Breast Cancer.
    7. Early diagnosis of partial interferon-gamma receptor 1 deficiency prevents the development of Bacille de Calmette et Guerin osteomyelitis.
      Title: Early diagnosis of partial interferon-γ receptor 1 deficiency prevents the development of Bacille de Calmette et Guérin osteomyelitis.
    8. Genetic Polymorphisms of IFNG, IFNGR1, and Androgen Receptor and Chronic Prostatitis/Chronic Pelvic Pain Syndrome in a Chinese Han Population.
      Title: Genetic Polymorphisms of IFNG, IFNGR1, and Androgen Receptor and Chronic Prostatitis/Chronic Pelvic Pain Syndrome in a Chinese Han Population.
    9. Paraspeckle Promotes Hepatocellular Carcinoma Immune Escape by Sequestering IFNGR1 mRNA.
      Title: Paraspeckle Promotes Hepatocellular Carcinoma Immune Escape by Sequestering IFNGR1 mRNA.
    10. Complete IFN-gammaR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.
      Title: Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.
    Submit: New GeneRIF Correction See all GeneRIFs (120)

    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
    Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
    MedGen: C4014863 OMIM: 615978 GeneReviews: Not available
    		not available
    Helicobacter pylori infection, susceptibility to
    MedGen: C1838332 OMIM: 600263 GeneReviews: Not available
    		not available
    Hepatitis B virus, susceptibility to
    MedGen: C1864880 OMIM: 610424 GeneReviews: Not available
    		not available
    Immunodeficiency 27A
    MedGen: C4011949 OMIM: 209950 GeneReviews: Not available
    		not available
    Mycobacterium tuberculosis, susceptibility to
    MedGen: C1834752 OMIM: 607948 GeneReviews: Not available
    		not available

    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
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of interferon gamma receptor 1 (IFNGR1, CD119) PubMed
    Vpu vpu Vpu-mediated modulation of IFNA (IFN-1) production by plasmacytoid dendritric cells requires the presence of BST2 on infected donor cells PubMed
    vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of interferon gamma receptor 1 (IFNGR1, CD119) 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

    Clone Names

    • FLJ45734

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 astrocyte activation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of amyloid-beta clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of amyloid-beta formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of tumor necrosis factor production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to virus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in type II interferon-mediated signaling pathway IDA
    Inferred from Direct Assay
    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
    is_active_in membrane IDA
    Inferred from Direct Assay
    more info
    		 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 IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    interferon gamma receptor 1
    Names
    AVP, type 2
    CD119 antigen
    CDw119
    IFN-gamma receptor 1
    IFN-gamma-R-alpha
    IFN-gamma-R1
    antiviral protein, type 2
    immune interferon receptor 1
    interferon-gamma receptor alpha chain

    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_007394.1 RefSeqGene

      Range
      5001..26947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_66

    mRNA and Protein(s)

    1. NM_000416.3 → NP_000407.1  interferon gamma receptor 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000407.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK127636, BC005333, BU674317
      Consensus CDS
      CCDS5185.1
      UniProtKB/Swiss-Prot
      B4DFT7, E1P587, P15260, Q53Y96
      UniProtKB/TrEMBL
      A0A0S2Z3Y2, B2R6Q9, Q53GX8, Q9BY69
      Related
      ENSP00000356713.5, ENST00000367739.9
      Conserved Domains (2) summary
      pfam07140
      Location:161 → 317
      IFNGR1; Interferon gamma receptor (IFNGR1)
      cl21522
      Location:25 → 113
      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_001363526.1 → NP_001350455.1  interferon gamma receptor 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AL050337
      Consensus CDS
      CCDS87446.1
      UniProtKB/TrEMBL
      A0A2R8Y4U4, B4DLL6, Q5TFD1
      Related
      ENSP00000496387.1, ENST00000646036.1
      Conserved Domains (2) summary
      pfam07140
      Location:151 → 307
      IFNGR1; Interferon gamma receptor (IFNGR1)
      cl21522
      Location:13 → 103
      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. NM_001363527.1 → NP_001350456.1  interferon gamma receptor 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL050337
      Consensus CDS
      CCDS87445.1
      UniProtKB/TrEMBL
      A0A2R8YFL3, B4DLL6
      Related
      ENSP00000495272.1, ENST00000644894.1
      Conserved Domains (2) summary
      pfam07140
      Location:120 → 276
      IFNGR1; Interferon gamma receptor (IFNGR1)
      cl21522
      Location:1 → 72
      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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      137197484..137219385 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535793.3 → XP_011534095.1  interferon gamma receptor 1 isoform X1

      See identical proteins and their annotated locations for XP_011534095.1

      UniProtKB/TrEMBL
      A0A2R8Y4U4, B4DLL6, Q5TFD1
      Related
      ENSP00000394230.2, ENST00000414770.6
      Conserved Domains (2) summary
      pfam07140
      Location:151 → 307
      IFNGR1; Interferon gamma receptor (IFNGR1)
      cl21522
      Location:13 → 103
      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_006715470.4 → XP_006715533.1  interferon gamma receptor 1 isoform X1

      See identical proteins and their annotated locations for XP_006715533.1

      UniProtKB/TrEMBL
      A0A2R8Y4U4, B4DLL6, Q5TFD1
      Related
      ENSP00000494069.1, ENST00000646898.1
      Conserved Domains (2) summary
      pfam07140
      Location:151 → 307
      IFNGR1; Interferon gamma receptor (IFNGR1)
      cl21522
      Location:13 → 103
      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_011535794.2 → XP_011534096.1  interferon gamma receptor 1 isoform X1

      See identical proteins and their annotated locations for XP_011534096.1

      UniProtKB/TrEMBL
      A0A2R8Y4U4, B4DLL6, Q5TFD1
      Conserved Domains (2) summary
      pfam07140
      Location:151 → 307
      IFNGR1; Interferon gamma receptor (IFNGR1)
      cl21522
      Location:13 → 103
      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 ...

    4. XM_047418726.1 → XP_047274682.1  interferon gamma receptor 1 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y4U4, Q5TFD1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      138385847..138407878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355329.1 → XP_054211304.1  interferon gamma receptor 1 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y4U4, Q5TFD1

    2. XM_054355326.1 → XP_054211301.1  interferon gamma receptor 1 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y4U4, Q5TFD1

    3. XM_054355327.1 → XP_054211302.1  interferon gamma receptor 1 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y4U4, Q5TFD1

    4. XM_054355328.1 → XP_054211303.1  interferon gamma receptor 1 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y4U4, Q5TFD1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15260.1 GenPept UniProtKB/Swiss-Prot:P15260

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