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

Gene ID: 3455, updated on 20-Dec-2019

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 Ensembl:ENSG00000249624 MIM:602376
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-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. Multiple transcript variants encoding at least two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in spleen (RPKM 13.0), appendix (RPKM 12.7) and 24 other tissues See more
Orthologs

Genomic context

See IFNAR2 in Genome Data Viewer
Location:
21q22.11
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (33229895..33265664)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34602231..34636831)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372787 Neighboring gene long intergenic non-protein coding RNA 1548 Neighboring gene IL10RB divergent transcript Neighboring gene interleukin 10 receptor subunit beta 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: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

NHGRI GWAS Catalog

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: IL10RB

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
type I interferon receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type I interferon receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
JAK-STAT cascade TAS
Traceable Author Statement
more info
PubMed 
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of type I interferon-mediated signaling pathway TAS
Traceable Author Statement
more info
 
response to interferon-alpha IDA
Inferred from Direct Assay
more info
PubMed 
response to interferon-alpha IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to interferon-beta IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to virus TAS
Traceable Author Statement
more info
PubMed 
type I interferon signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type I interferon signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
type I interferon signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
interferon alpha/beta receptor 2
Names
IFN-R-2
IFN-alpha/beta receptor 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)

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
    4970..39588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000874.5NP_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/Swiss-Prot
    P48551
    Related
    ENSP00000384309.2, ENST00000404220.7
    Conserved Domains (3) summary
    pfam01108
    Location:24120
    Tissue_fac; Tissue factor
    pfam09294
    Location:134231
    Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
    pfam13900
    Location:293329
    GVQW; Putative domain of unknown function
  2. NM_001289125.3NP_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
    P48551
    Related
    ENSP00000343957.4, ENST00000342136.8
    Conserved Domains (2) summary
    pfam01108
    Location:24120
    Tissue_fac; Tissue factor
    pfam09294
    Location:134231
    Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
  3. NM_001289126.1NP_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/Swiss-Prot
    P48551
    Conserved Domains (2) summary
    pfam01108
    Location:24120
    Tissue_fac; Tissue factor
    pfam09294
    Location:134231
    Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
  4. NM_001289128.1NP_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)
    BC013156, CD110317, HY104613, U29584, X89814
    Consensus CDS
    CCDS74782.1
    UniProtKB/Swiss-Prot
    P48551
    Related
    ENSP00000343289.3, ENST00000342101.7
    Conserved Domains (2) summary
    pfam01108
    Location:24120
    Tissue_fac; Tissue factor
    pfam09294
    Location:134231
    Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
  5. NM_207584.3NP_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/Swiss-Prot
    P48551
    UniProtKB/TrEMBL
    Q9BUA0
    Related
    ENSP00000371699.3, ENST00000382264.7
    Conserved Domains (3) summary
    pfam01108
    Location:24120
    Tissue_fac; Tissue factor
    pfam09294
    Location:134231
    Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
    pfam13900
    Location:293329
    GVQW; Putative domain of unknown function
  6. NM_207585.2NP_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)
    BC013156, BG715143, HY104613, U29584, X89814
    Consensus CDS
    CCDS13621.1
    UniProtKB/Swiss-Prot
    P48551
    Related
    ENSP00000496248.1, ENST00000646150.1
    Conserved Domains (2) summary
    pfam01108
    Location:24120
    Tissue_fac; Tissue factor
    pfam09294
    Location:134231
    Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    33229895..33265664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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