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

Gene ID: 3455, updated on 11-Apr-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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Location:
21q22.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33229938..33265664)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31598696..31634459)
105.20220307 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
  • 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. Polymorphism in interferon alpha/beta receptor contributes to glucocorticoid response and outcome of ARDS and COVID-19. Jalkanen J, et al. Crit Care, 2023 Mar 16. PMID 36927455, Free PMC Article
  2. Type I interferon receptor (IFNAR2) deficiency reveals Zika virus cytopathicity in human macrophages and microglia. Hanrath AT, et al. Front Immunol, 2022. PMID 36439115, Free PMC Article
  3. IFNAR2 relevance in the clinical outcome of individuals with severe COVID-19. Fricke-Galindo I, et al. Front Immunol, 2022. PMID 35967349, Free PMC Article
  4. Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic. Duncan CJA, et al. J Exp Med, 2022 Jun 6. PMID 35442417, Free PMC Article
  5. Soluble Receptor Isoform of IFN-Beta (sIFNAR2) in Multiple Sclerosis Patients and Their Association With the Clinical Response to IFN-Beta Treatment. Aliaga-Gaspar P, et al. Front Immunol, 2021. PMID 34975865, Free PMC Article

See all (135) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association of IFNAR1 and IFNAR2 with COVID-19 severity.
    Title: Association of IFNAR1 and IFNAR2 with COVID-19 severity.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. IFNAR1 and IFNAR2 play distinct roles in initiating type I interferon-induced JAK-STAT signaling and activating STATs.
    Title: IFNAR1 and IFNAR2 play distinct roles in initiating type I interferon-induced JAK-STAT signaling and activating STATs.
Submit: New GeneRIF Correction See all GeneRIFs (66)

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
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

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 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
  
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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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

    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

    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

    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

    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

    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

    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

    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

    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_2023_10

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

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