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    IFNAR2 interferon alpha and beta receptor subunit 2 [ Homo sapiens (human) ]

    Gene ID: 3455, updated on 2-Nov-2024

    Summary

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    Official Symbol
    IFNAR2provided by HGNC
    Official Full Name
    interferon alpha and beta receptor subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:5433
    See related
    Ensembl:ENSG00000159110 MIM:602376; AllianceGenome:HGNC:5433
    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
    IFN-R; IMD45; IFNABR; IFNARB; IFN-R-2; IFN-alpha-REC
    Summary
    The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family. Mutations in this gene are associated with Immunodeficiency 45. [provided by RefSeq, Jul 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Ubiquitous expression in spleen (RPKM 13.0), appendix (RPKM 12.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IFNAR2 in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33229938..33265664)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31598696..31634459)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34602243..34637969)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18367 Neighboring gene uncharacterized LOC105372787 Neighboring gene long intergenic non-protein coding RNA 1548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13249 Neighboring gene IFNAR2-IL10RB readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18370 Neighboring gene NANOG hESC enhancer GRCh37_chr21:34617736-34618335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18372 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 IL10RB divergent transcript 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

    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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    Related articles in PubMed

    1. Hepatic interferon receptor mRNA expression: clinical relevance and its relationship with effectiveness of interferon plus ribavirin therapy in patients with genotype 1b hepatitis C virus infection. Lee CM, et al. Antivir Ther, 2006. PMID 16518956
    2. Antiviral, Immunomodulatory and Antiproliferative Activities of Recombinant Soluble IFNAR2 without IFN-ß Mediation. Hurtado-Guerrero I, et al. J Clin Med, 2020 Mar 31. PMID 32244308, Free PMC Article
    3. The human type I interferon receptor: NMR structure reveals the molecular basis of ligand binding. Chill JH, et al. Structure, 2003 Jul. PMID 12842042
    4. HIV infection does not alter interferon α/β receptor 2 expression on mucosal immune cells. Ickler J, et al. PLoS One, 2020. PMID 31935222, Free PMC Article
    5. Formation of human IFN-beta complex with the soluble type I interferon receptor IFNAR-2 leads to enhanced IFN stability, pharmacokinetics, and antitumor activity in xenografted SCID mice. McKenna SD, et al. J Interferon Cytokine Res, 2004 Feb. PMID 14980076

    See all (137) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TYK2, IFITM3, IFNAR2 and OAS3 single-nucleotide polymorphisms among severe COVID-19 ICU patients in Morocco.
      Title: TYK2, IFITM3, IFNAR2 and OAS3 single-nucleotide polymorphisms among severe COVID-19 ICU patients in Morocco.
    2. Association of IFNAR1 and IFNAR2 with COVID-19 severity.
      Title: Association of IFNAR1 and IFNAR2 with COVID-19 severity.
    3. Polymorphism in interferon alpha/beta receptor contributes to glucocorticoid response and outcome of ARDS and COVID-19.
      Title: Polymorphism in interferon alpha/beta receptor contributes to glucocorticoid response and outcome of ARDS and COVID-19.
    4. Polymorphisms in ACE1, TMPRSS2, IFIH1, IFNAR2, and TYK2 Genes Are Associated with Worse Clinical Outcomes in COVID-19.
      Title: Polymorphisms in ACE1, TMPRSS2, IFIH1, IFNAR2, and TYK2 Genes Are Associated with Worse Clinical Outcomes in COVID-19.
    5. Deleterious single nucleotide polymorphisms (SNPs) of human IFNAR2 gene facilitate COVID-19 severity in patients: a comprehensive in silico approach.
      Title: Deleterious single nucleotide polymorphisms (SNPs) of human IFNAR2 gene facilitate COVID-19 severity in patients: a comprehensive in silico approach.
    6. Type I interferon receptor (IFNAR2) deficiency reveals Zika virus cytopathicity in human macrophages and microglia.
      Title: Type I interferon receptor (IFNAR2) deficiency reveals Zika virus cytopathicity in human macrophages and microglia.
    7. IFNAR2 relevance in the clinical outcome of individuals with severe COVID-19.
      Title: IFNAR2 relevance in the clinical outcome of individuals with severe COVID-19.
    8. Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
      Title: Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
    9. Long non-coding RNA prostate cancer-associated transcript 6 inhibited gefitinib sensitivity of non-small cell lung cancer by serving as a competing endogenous RNA of miR-326 to up-regulate interferon-alpha receptor 2.
      Title: Long non-coding RNA prostate cancer-associated transcript 6 inhibited gefitinib sensitivity of non-small cell lung cancer by serving as a competing endogenous RNA of miR-326 to up-regulate interferon-alpha receptor 2.
    10. Soluble Receptor Isoform of IFN-Beta (sIFNAR2) in Multiple Sclerosis Patients and Their Association With the Clinical Response to IFN-Beta Treatment.
      Title: Soluble Receptor Isoform of IFN-Beta (sIFNAR2) in Multiple Sclerosis Patients and Their Association With the Clinical Response to IFN-Beta Treatment.
    Submit: New GeneRIF Correction See all GeneRIFs (67)

    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
    Hepatitis B virus, susceptibility to
    MedGen: C1864880 OMIM: 610424 GeneReviews: Not available
    		not available
    Immunodeficiency 45
    MedGen: C4225252 OMIM: 616669 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    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)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides upregulate gene expression of interferon (alpha, beta and omega) receptor 2 (IFNAR2) in U-937 macrophages 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

    Potential readthrough

    Included gene: IL10RB

    Readthrough IFNAR2-IL10RB

    Readthrough gene: IFNAR2-IL10RB, Included gene: IL10RB

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables JAK pathway signal transduction adaptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables cytokine binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables interleukin-22 receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables type I interferon binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables type I interferon receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables type I 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 cell surface receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to interferon-beta IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to virus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in interleukin-22-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of receptor signaling pathway via JAK-STAT IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to interferon-alpha IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to interferon-alpha IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to interferon-beta IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to interferon-beta IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to virus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in type I interferon-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in type I interferon-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in type I interferon-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in type I interferon-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_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 alpha/beta receptor 2
    Names
    IFN-alpha/beta receptor 2
    IFNalpha/beta receptor subunit 2
    human interferon alpha/beta receptor
    interferon (alpha, beta and omega) receptor 2
    interferon alpha binding protein
    interferon receptor
    interferon-alpha/beta receptor beta chain
    type I interferon receptor 2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_016003.2 RefSeqGene

      Range
      5013..40739
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000874.5 → NP_000865.2  interferon alpha/beta receptor 2 isoform b precursor

      See identical proteins and their annotated locations for NP_000865.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and 3' coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a. Variants 2 and 3 both encode isoform b.
      Source sequence(s)
      AP000295, BG715143, BM677386, HY104613, L41944
      Consensus CDS
      CCDS13622.1
      UniProtKB/TrEMBL
      Q9BUA0
      Related
      ENSP00000384309.2, ENST00000404220.7
      Conserved Domains (3) summary
      pfam01108
      Location:24 → 120
      Tissue_fac; Tissue factor
      pfam09294
      Location:134 → 231
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
      pfam13900
      Location:293 → 329
      GVQW; Putative domain of unknown function

    2. NM_001289125.3 → NP_001276054.1  interferon alpha/beta receptor 2 isoform a precursor

      See identical proteins and their annotated locations for NP_001276054.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 4 both encode isoform a.
      Source sequence(s)
      AP000295, HY104613, L41942
      Consensus CDS
      CCDS13621.1
      UniProtKB/Swiss-Prot
      A8KAJ4, D3DSE8, D3DSE9, P48551, Q15467, Q6FHD7
      Related
      ENSP00000343957.5, ENST00000342136.9
      Conserved Domains (2) summary
      pfam01108
      Location:24 → 120
      Tissue_fac; Tissue factor
      pfam09294
      Location:134 → 231
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III

    3. NM_001289126.2 → NP_001276055.1  interferon alpha/beta receptor 2 isoform c precursor

      See identical proteins and their annotated locations for NP_001276055.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon, which results in a frameshift and early termination of translation, compared to variant 1. The encoded protein (isoform c) has a shorter and distinct C-terminus, compared to isoform a. Variants 5 and 6 both encode isoform c.
      Source sequence(s)
      AP000295, HY104613, L41943, X89814
      Consensus CDS
      CCDS74782.1
      UniProtKB/TrEMBL
      A0A804HI63
      Conserved Domains (2) summary
      pfam01108
      Location:24 → 120
      Tissue_fac; Tissue factor
      pfam09294
      Location:134 → 231
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III

    4. NM_001289128.2 → NP_001276057.1  interferon alpha/beta receptor 2 isoform c precursor

      See identical proteins and their annotated locations for NP_001276057.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks an alternate in-frame exon, which results in a frameshift and early termination of translation, compared to variant 1. The encoded protein (isoform c) has a shorter and distinct C-terminus, compared to isoform a. Variants 5 and 6 both encode isoform c.
      Source sequence(s)
      AP000295, BC013156, CD110317, HY104613, U29584, X89814
      Consensus CDS
      CCDS74782.1
      UniProtKB/TrEMBL
      A0A804HI63
      Related
      ENSP00000343289.3, ENST00000342101.7
      Conserved Domains (2) summary
      pfam01108
      Location:24 → 120
      Tissue_fac; Tissue factor
      pfam09294
      Location:134 → 231
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III

    5. NM_001385054.1 → NP_001371983.1  interferon alpha/beta receptor 2 isoform d precursor

      Status: REVIEWED

      Source sequence(s)
      AP000292, AP000294, AP000295
      UniProtKB/TrEMBL
      A0A804HI63
      Conserved Domains (2) summary
      pfam01108
      Location:8 → 120
      Tissue_fac; Tissue factor
      pfam09294
      Location:134 → 231
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III

    6. NM_001385055.1 → NP_001371984.1  interferon alpha/beta receptor 2 isoform e precursor

      Status: REVIEWED

      Source sequence(s)
      AP000292, AP000294, AP000295
      Conserved Domains (2) summary
      pfam01108
      Location:8 → 120
      Tissue_fac; Tissue factor
      pfam09294
      Location:134 → 231
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III

    7. NM_207584.3 → NP_997467.1  interferon alpha/beta receptor 2 isoform b precursor

      See identical proteins and their annotated locations for NP_997467.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a. Variants 2 and 3 both encode isoform b.
      Source sequence(s)
      AP000295, BC002793, BG715143, BI520056, BM677386, L41944
      Consensus CDS
      CCDS13622.1
      UniProtKB/TrEMBL
      Q9BUA0
      Related
      ENSP00000371699.3, ENST00000382264.7
      Conserved Domains (3) summary
      pfam01108
      Location:24 → 120
      Tissue_fac; Tissue factor
      pfam09294
      Location:134 → 231
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
      pfam13900
      Location:293 → 329
      GVQW; Putative domain of unknown function

    8. NM_207585.3 → NP_997468.1  interferon alpha/beta receptor 2 isoform a precursor

      See identical proteins and their annotated locations for NP_997468.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 4 both encode isoform a.
      Source sequence(s)
      AP000295, BC013156, BG715143, HY104613, U29584, X89814
      Consensus CDS
      CCDS13621.1
      UniProtKB/Swiss-Prot
      A8KAJ4, D3DSE8, D3DSE9, P48551, Q15467, Q6FHD7
      Conserved Domains (2) summary
      pfam01108
      Location:24 → 120
      Tissue_fac; Tissue factor
      pfam09294
      Location:134 → 231
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III

    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
      33229938..33265664
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      31598696..31634459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48551.1 GenPept UniProtKB/Swiss-Prot:P48551

    Gene LinkOut

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

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