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

    Gene ID: 3455, updated on 10-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (30 hits/1289 screens)

    Associated conditions

    Description Tests
    Hepatitis B virus, susceptibility to
    MedGen: C1864880 OMIM: 610424 GeneReviews: Not available
    Compare labs
    Immunodeficiency 45
    MedGen: C4225252 OMIM: 616669 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Interactions

    General gene information

    Potential readthrough

    Included gene: IL10RB

    Readthrough IFNAR2-IL10RB

    Readthrough gene: IFNAR2-IL10RB, Included gene: IL10RB

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables JAK pathway signal transduction adaptor activity PubMed 
    enables cytokine binding PubMed 
    enables protein binding PubMed 
    enables protein kinase binding PubMed 
    enables type I interferon binding PubMed 
    enables type I interferon receptor activity  
    enables type I interferon receptor activity PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway PubMed 
    involved_in cell surface receptor signaling pathway via JAK-STAT PubMed 
    involved_in cellular response to interferon-beta PubMed 
    involved_in cellular response to virus PubMed 
    involved_in defense response to virus PubMed 
    involved_in interleukin-22-mediated signaling pathway  
    involved_in regulation of receptor signaling pathway via JAK-STAT  
    involved_in response to interferon-alpha PubMed 
    involved_in response to interferon-alpha PubMed 
    involved_in response to interferon-beta PubMed 
    involved_in response to interferon-beta PubMed 
    involved_in response to virus PubMed 
    involved_in type I interferon-mediated signaling pathway  
    involved_in type I interferon-mediated signaling pathway PubMed 
    involved_in type I interferon-mediated signaling pathway PubMed 
    involved_in type I interferon-mediated signaling pathway PubMed 
    Component Evidence Code Pubs
    located_in extracellular region  
    located_in extracellular space PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  

    General protein information

    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)

    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)
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