Human Gene IFNGR2 (ENST00000290219.11_5) from GENCODE V47lift37
  Description: interferon gamma receptor 2, transcript variant 2 (from RefSeq NM_005534.4)
Gencode Transcript: ENST00000290219.11_5
Gencode Gene: ENSG00000159128.16_12
Transcript (Including UTRs)
   Position: hg19 chr21:34,775,719-34,809,823 Size: 34,105 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr21:34,775,850-34,809,269 Size: 33,420 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:34,775,719-34,809,823)mRNA (may differ from genome)Protein (337 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: INGR2_HUMAN
DESCRIPTION: RecName: Full=Interferon gamma receptor 2; Short=IFN-gamma receptor 2; Short=IFN-gamma-R2; AltName: Full=Interferon gamma receptor accessory factor 1; Short=AF-1; AltName: Full=Interferon gamma transducer 1; Flags: Precursor;
FUNCTION: Part of the receptor for interferon gamma. Required for signal transduction. This accessory factor is an integral part of the IFN-gamma signal transduction pathway and is likely to interact with GAF, JAK1, and/or JAK2.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
DISEASE: Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]; also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance.
SIMILARITY: Belongs to the type II cytokine receptor family.
SIMILARITY: Contains 2 fibronectin type-III domains.
WEB RESOURCE: Name=IFNGR2base; Note=IFNGR2 mutation db; URL="http://bioinf.uta.fi/IFNGR2base/";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IFNGR2";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ifngr2/";

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: IFNGR2
Diseases sorted by gene-association score: immunodeficiency 28, mycobacteriosis* (1550), autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency* (350), familial atypical mycobacteriosis, ifngr2-related* (100), beta-lactam allergy (16), tuberculosis (14), mycobacterium abscessus (6), sezary's disease (4), sarcoidosis 1 (2)
* = 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: 52.10 RPKM in Whole Blood
Total median expression: 735.23 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 -76.20131-0.582 Picture PostScript Text
3' UTR -157.20554-0.284 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

ModBase Predicted Comparative 3D Structure on P38484
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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 DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004906 interferon-gamma receptor activity
GO:0004920 interleukin-10 receptor activity

Biological Process:
GO:0007166 cell surface receptor signaling pathway
GO:0009615 response to virus
GO:0060333 interferon-gamma-mediated signaling pathway
GO:0060334 regulation of interferon-gamma-mediated signaling pathway

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  U05875 - Human clone pSK1 interferon gamma receptor accessory factor-1 (AF-1) mRNA, complete cds.
BC003624 - Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1), mRNA (cDNA clone MGC:2193 IMAGE:2967074), complete cds.
U05877 - Human clone pJS3 interferon gamma receptor accessory factor-1 (AF-1) mRNA, complete cds.
AK314005 - Homo sapiens cDNA, FLJ94659, highly similar to Homo sapiens interferon gamma receptor 2 (interferon gammatransducer 1) (IFNGR2), mRNA.
AK292246 - Homo sapiens cDNA FLJ78008 complete cds, highly similar to Human clone pSK1 interferon gamma receptor accessory factor-1 (AF-1) mRNA.
AB463788 - Synthetic construct DNA, clone: pF1KB6480, Homo sapiens IFNGR2 gene for interferon gamma receptor 2, without stop codon, in Flexi system.
DQ892320 - Synthetic construct clone IMAGE:100004950; FLH185233.01X; RZPDo839G10146D interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2) gene, encodes complete protein.
DQ895522 - Synthetic construct Homo sapiens clone IMAGE:100009982; FLH185229.01L; RZPDo839G10145D interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2) gene, encodes complete protein.
EF173886 - Homo sapiens interferon gamma receptor 2 mRNA, partial cds.
JD368000 - Sequence 349024 from Patent EP1572962.
JD064372 - Sequence 45396 from Patent EP1572962.
JD404209 - Sequence 385233 from Patent EP1572962.
JD106316 - Sequence 87340 from Patent EP1572962.
JD288542 - Sequence 269566 from Patent EP1572962.
JD112536 - Sequence 93560 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ifngPathway - IFN gamma signaling pathway
h_nktPathway - Selective expression of chemokine receptors during T-cell polarization
h_th1th2Pathway - Th1/Th2 Differentiation
h_tidPathway - Chaperones modulate interferon Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P38484 (Reactome details) participates in the following event(s):

R-HSA-873926 Interaction of IFNG with IFNGR
R-HSA-873919 Phosphorylation of JAK2
R-HSA-877308 Dephosphorylation of JAKs by PTPs
R-HSA-873924 Phosphorylation of IFNGR1 by JAK kinases
R-HSA-873918 Transphosphorylation of JAK1
R-HSA-873921 Binding of STAT1 to p-IFNGR1
R-HSA-873927 Release of STAT1 dimer from active receptor unit
R-HSA-877269 SOCS-1 and SOCS-3 binds to p-JAK2
R-HSA-909552 Phosphorylation of STAT1 at Ser727
R-HSA-873922 Phosphorylation of STAT1 by JAK kinases
R-HSA-877300 Interferon gamma signaling
R-HSA-877312 Regulation of IFNG 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: ENST00000290219.1, ENST00000290219.10, ENST00000290219.2, ENST00000290219.3, ENST00000290219.4, ENST00000290219.5, ENST00000290219.6, ENST00000290219.7, ENST00000290219.8, ENST00000290219.9, IFNGR2 , IFNGT1 , INGR2_HUMAN, NM_005534, P38484, Q9BTL5, uc317kuc.1, uc317kuc.2
UCSC ID: ENST00000290219.11_5
RefSeq Accession: NM_005534.4
Protein: P38484 (aka INGR2_HUMAN or INGS_HUMAN)

-  Gene Model Information
  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.