Human Gene IFNAR2 (uc002yrd.3)
  Description: Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.
RefSeq Summary (NM_207585): 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].
Transcript (Including UTRs)
   Position: hg19 chr21:34,602,231-34,636,820 Size: 34,590 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr21:34,614,228-34,635,805 Size: 21,578 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:34,602,231-34,636,820)mRNA (may differ from genome)Protein (515 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: INAR2_HUMAN
DESCRIPTION: RecName: Full=Interferon alpha/beta receptor 2; Short=IFN-R-2; Short=IFN-alpha binding protein; Short=IFN-alpha/beta receptor 2; AltName: Full=Interferon alpha binding protein; AltName: Full=Type I interferon receptor 2; Flags: Precursor;
FUNCTION: Associates with IFNAR1 to form the type I interferon receptor. Receptor for interferons alpha and beta. Involved in IFN-mediated STAT1, STAT2 and STAT3 activation. Isoform 1 and isoform 2 are directly involved in signal transduction due to their association with the TYR kinase, JAK1. Isoform 3 is a potent inhibitor of type I IFN receptor activity.
SUBUNIT: Heterodimer with IFNAR1; in presence of interferon alpha and/or beta ligands forms the type I interferon receptor. Isoform 1 interacts with the transcriptional factors STAT1 and STAT2. Interacts with JAK1.
INTERACTION: Q92793:CREBBP; NbExp=4; IntAct=EBI-958408, EBI-81215; P63244:GNB2L1; NbExp=4; IntAct=EBI-958408, EBI-296739; Q00978:IRF9; NbExp=6; IntAct=EBI-958408, EBI-626526; P52630:STAT2; NbExp=2; IntAct=EBI-958408, EBI-1546963;
SUBCELLULAR LOCATION: Isoform 1: Membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 2: Membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 3: Secreted.
TISSUE SPECIFICITY: Isoform 3 is detected in the urine (at protein level). Expressed in blood cells. Expressed in lymphoblastoid and fibrosarcoma cell lines.
PTM: Phosphorylated on tyrosine residues upon interferon binding. Phosphorylation at Tyr-337 or Tyr-512 are sufficient to mediate interferon dependent activation of STAT1, STAT2 and STAT3 leading to antiproliferative effects on many different cell types.
PTM: Glycosylated.
POLYMORPHISM: Genetic variations in IFNAR2 influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424].
SIMILARITY: Belongs to the type II cytokine receptor family.
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ifnar2/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IFNAR2
CDC HuGE Published Literature: IFNAR2
Positive Disease Associations: respiratory syncytial virus bronchiolitis
Related Studies:
  1. respiratory syncytial virus bronchiolitis
    Christine L E Siezen , et al. The Pediatric infectious disease journal 2009 28(4):333-5, Genetic susceptibility to respiratory syncytial virus bronchiolitis in preterm children is associated with airway remodeling genes and innate immune genes., The Pediatric infectious disease journal 2009 28(4):333-5. [PubMed 19258923]

-  MalaCards Disease Associations
  MalaCards Gene Search: IFNAR2
Diseases sorted by gene-association score: immunodeficiency 45* (968), measles (19), primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection* (18), mumps (16), rubella (14), hepatitis c (11), coronary aneurysm (9), heart aneurysm (9), chancroid (6), hepatitis (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.32 RPKM in Spleen
Total median expression: 263.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -150.10328-0.458 Picture PostScript Text
3' UTR -353.121015-0.348 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR013783 - Ig-like_fold
IPR015373 - Interferon_alpha/beta_rcpt_bsu

Pfam Domains:
PF01108 - Tissue factor
PF09294 - Interferon-alpha/beta receptor, fibronectin type III

SCOP Domains:
49265 - Fibronectin type III

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1N6U - NMR MuPIT 1N6V - NMR MuPIT 2HYM - NMR MuPIT 2KZ1 - NMR MuPIT 2LAG - NMR MuPIT 3S8W - X-ray MuPIT 3S9D - X-ray MuPIT 3SE3 - X-ray MuPIT 3SE4 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P48551
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004905 type I interferon receptor activity
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0019962 type I interferon binding

Biological Process:
GO:0007166 cell surface receptor signaling pathway
GO:0007259 JAK-STAT cascade
GO:0009615 response to virus
GO:0035455 response to interferon-alpha
GO:0035456 response to interferon-beta
GO:0051607 defense response to virus
GO:0060337 type I interferon signaling pathway
GO:0060338 regulation of type I interferon-mediated signaling pathway

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC002793 - Homo sapiens interferon (alpha, beta and omega) receptor 2, mRNA (cDNA clone MGC:3873 IMAGE:3626374), complete cds.
L41942 - Homo sapiens interferon receptor ifnar2-2 (splice variant IFNAR2-2) mRNA, complete cds.
L41944 - Homo sapiens interferon receptor ifnar2-1 (splice variant IFNAR2-1) mRNA, complete cds.
BC013156 - Homo sapiens interferon (alpha, beta and omega) receptor 2, mRNA (cDNA clone IMAGE:3917772), with apparent retained intron.
X77722 - H.sapiens mRNA for interferon alpha/beta receptor.
X89814 - H.sapiens mRNA for soluble IFN alpha/beta receptor.
U29584 - Human interferon alpha-beta receptor, beta subunit long form mRNA, complete cds.
HG380509 - Homo sapiens mRNA for interferon (alpha, beta and omega) receptor 2 (IFNAR2 gene).
JD124986 - Sequence 106010 from Patent EP1572962.
JD547182 - Sequence 528206 from Patent EP1572962.
JD406588 - Sequence 387612 from Patent EP1572962.
JD459087 - Sequence 440111 from Patent EP1572962.
AK293059 - Homo sapiens cDNA FLJ75841 complete cds, highly similar to Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.
L41943 - Homo sapiens interferon receptor ifnar2-3 (splice variant IFNAR2-3) mRNA, complete cds.
JD332947 - Sequence 313971 from Patent EP1572962.
CU678200 - Synthetic construct Homo sapiens gateway clone IMAGE:100018974 5' read IFNAR2 mRNA.
DQ896260 - Synthetic construct Homo sapiens clone IMAGE:100010720; FLH191690.01L; RZPDo839F1267D interferon (alpha, beta and omega) receptor 2 (IFNAR2) gene, encodes complete protein.
DQ893015 - Synthetic construct clone IMAGE:100005645; FLH191694.01X; RZPDo839F1277D interferon (alpha, beta and omega) receptor 2 (IFNAR2) gene, encodes complete protein.
KJ897037 - Synthetic construct Homo sapiens clone ccsbBroadEn_06431 IFNAR2 gene, encodes complete protein.
CR541817 - Homo sapiens full open reading frame cDNA clone RZPDo834C0132D for gene IFNAR2, interferon (alpha, beta and omega) receptor 2; complete cds, incl. stopcodon.
AB528040 - Synthetic construct DNA, clone: pF1KB0471, Homo sapiens IFNAR2 gene for interferon (alpha, beta and omega) receptor 2, without stop codon, in Flexi system.
X89772 - H.sapiens mRNA for interferon alpha/beta receptor (long form).
DQ655960 - Homo sapiens clone UGL9b05, mRNA sequence.
DQ655961 - Homo sapiens clone UGL9d05, mRNA sequence.
JD194218 - Sequence 175242 from Patent EP1572962.
JD156830 - Sequence 137854 from Patent EP1572962.
JD234486 - Sequence 215510 from Patent EP1572962.
JD508498 - Sequence 489522 from Patent EP1572962.
JD492671 - Sequence 473695 from Patent EP1572962.
JD269258 - Sequence 250282 from Patent EP1572962.
JD204386 - Sequence 185410 from Patent EP1572962.
JD404464 - Sequence 385488 from Patent EP1572962.
JD177965 - Sequence 158989 from Patent EP1572962.
JD419204 - Sequence 400228 from Patent EP1572962.
JD468511 - Sequence 449535 from Patent EP1572962.
JD279651 - Sequence 260675 from Patent EP1572962.
JD489764 - Sequence 470788 from Patent EP1572962.
JD095433 - Sequence 76457 from Patent EP1572962.
JD520184 - Sequence 501208 from Patent EP1572962.
JD332903 - Sequence 313927 from Patent EP1572962.
JD259508 - Sequence 240532 from Patent EP1572962.
JD454676 - Sequence 435700 from Patent EP1572962.
JD534054 - Sequence 515078 from Patent EP1572962.
JD340065 - Sequence 321089 from Patent EP1572962.
JD384049 - Sequence 365073 from Patent EP1572962.
JD373831 - Sequence 354855 from Patent EP1572962.
JD527710 - Sequence 508734 from Patent EP1572962.
JD161520 - Sequence 142544 from Patent EP1572962.
JD161521 - Sequence 142545 from Patent EP1572962.
JD547595 - Sequence 528619 from Patent EP1572962.
JD090154 - Sequence 71178 from Patent EP1572962.
JD547596 - Sequence 528620 from Patent EP1572962.
JD522946 - Sequence 503970 from Patent EP1572962.
JD087037 - Sequence 68061 from Patent EP1572962.
JD212910 - Sequence 193934 from Patent EP1572962.
JD337518 - Sequence 318542 from Patent EP1572962.
JD463029 - Sequence 444053 from Patent EP1572962.
JD398051 - Sequence 379075 from Patent EP1572962.
JD356266 - Sequence 337290 from Patent EP1572962.
JD505617 - Sequence 486641 from Patent EP1572962.
JD365057 - Sequence 346081 from Patent EP1572962.
JD552298 - Sequence 533322 from Patent EP1572962.
JD242621 - Sequence 223645 from Patent EP1572962.
JD441167 - Sequence 422191 from Patent EP1572962.
JD204671 - Sequence 185695 from Patent EP1572962.
JD064015 - Sequence 45039 from Patent EP1572962.
JD064016 - Sequence 45040 from Patent EP1572962.
JD514168 - Sequence 495192 from Patent EP1572962.
JD070671 - Sequence 51695 from Patent EP1572962.
JD312090 - Sequence 293114 from Patent EP1572962.
JD346575 - Sequence 327599 from Patent EP1572962.
JD503253 - Sequence 484277 from Patent EP1572962.
JD294401 - Sequence 275425 from Patent EP1572962.
JD373785 - Sequence 354809 from Patent EP1572962.
JD106740 - Sequence 87764 from Patent EP1572962.
JD469136 - Sequence 450160 from Patent EP1572962.
JD254988 - Sequence 236012 from Patent EP1572962.
JD192380 - Sequence 173404 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04620 - Toll-like receptor signaling pathway
hsa04630 - Jak-STAT signaling pathway
hsa04650 - Natural killer cell mediated cytotoxicity

BioCarta from NCI Cancer Genome Anatomy Project
h_ranklPathway - Bone Remodelling
h_ifnaPathway - IFN alpha signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein P48551 (Reactome details) participates in the following event(s):

R-HSA-912685 UBP43 binds IFNAR2 and prevents JAK1 interaction
R-HSA-909720 IFN alpha/beta binds to IFNAR2
R-HSA-909732 Phosphorylation of STAT2
R-HSA-909719 Recruitment of STAT2 to p-IFNAR1
R-HSA-909726 Phosphorylation of STAT1
R-HSA-909722 Release of p-STAT2:p-STAT1 dimer
R-HSA-997309 Dephosphorylation of STAT1 by SHP2
R-HSA-909724 Recruitment of IFNAR1
R-HSA-909730 Phosphorylation of INFAR1 by TYK2
R-HSA-997311 Dephosphorylation of TYK2 by PTP1B
R-HSA-909729 Activation of JAK kinases
R-HSA-912680 Inhibition of JAK kinase activity by SOCS1/3
R-HSA-997314 Dephosphorylation of JAK1 by SHP1
R-HSA-909718 Formation of p-STAT1 homodimer
R-HSA-912694 Regulation of IFNA signaling
R-HSA-909733 Interferon alpha/beta signaling
R-HSA-913531 Interferon Signaling
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8KAJ4, D3DSE8, D3DSE9, IFNABR, IFNARB, INAR2_HUMAN, NM_207585, NP_997468, P48551, Q15467, Q6FHD7
UCSC ID: uc002yrd.3
RefSeq Accession: NM_207585
Protein: P48551 (aka INAR2_HUMAN or INR2_HUMAN)
CCDS: CCDS13621.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_207585.1
exon count: 9CDS single in 3' UTR: no RNA size: 2898
ORF size: 1548CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3290.00frame shift in genome: no % Coverage: 99.76
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.