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IFNGR2 interferon gamma receptor 2 [ Homo sapiens (human) ]

Gene ID: 3460, updated on 18-May-2023

Summary

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Official Symbol
IFNGR2provided by HGNC
Official Full Name
interferon gamma receptor 2provided by HGNC
Primary source
HGNC:HGNC:5440
See related
Ensembl:ENSG00000159128 MIM:147569; AllianceGenome:HGNC:5440
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
AF-1; IFGR2; IMD28; IFNGT1
Summary
This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in placenta (RPKM 30.0), appendix (RPKM 25.4) and 25 other tissues See more
Orthologs
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Genomic context

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See IFNGR2 in Genome Data Viewer
Location:
21q22.11
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33402882..33437516)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31775143..31809789)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34775188..34809823)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:34752348-34753547 Neighboring gene Sharpr-MPRA regulatory region 6397 Neighboring gene IFNGR2 promoter region Neighboring gene CRISPRi-FlowFISH-validated IFNGR2 regulatory element GRCh37_chr21:34776289-34777452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:34784507-34785261 Neighboring gene transmembrane protein 50B Neighboring gene RPS5 pseudogene 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C28

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. A purely quantitative form of partial recessive IFN-ÎłR2 deficiency caused by mutations of the initiation or second codon. Oleaga-Quintas C, et al. Hum Mol Genet, 2018 Nov 15. PMID 31222290, Free PMC Article
  2. Identification of a single nucleotide polymorphism indicative of high risk in acute myocardial infarction. Shalia K, et al. Indian J Med Res, 2017 Oct. PMID 29434065, Free PMC Article
  3. Crystal structure of human interferon-Îł receptor 2 reveals the structural basis for receptor specificity. MikuleckĂ˝ P, et al. Acta Crystallogr D Struct Biol, 2016 Sep. PMID 27599734, Free PMC Article
  4. IFNGR2 genetic polymorphism associated with sex-specific paranoid schizophrenia risk. Jemli A, et al. Nord J Psychiatry, 2017 Jan. PMID 27563937
  5. Successful unrelated cord blood transplant for complete IFN-Îł receptor 2 deficiency. Kamoun C, et al. J Allergy Clin Immunol, 2016 Nov. PMID 27522156

See all (107) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CircIFNGR2 enhances proliferation and migration of CRC and induces cetuximab resistance by indirectly targeting KRAS via sponging to MiR-30b.
    Title: CircIFNGR2 enhances proliferation and migration of CRC and induces cetuximab resistance by indirectly targeting KRAS via sponging to MiR-30b.
  2. Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes.
    Title: Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes.
  3. A purely quantitative form of partial recessive IFN-gammaR2 deficiency caused by mutations of the initiation or second codon.
    Title: A purely quantitative form of partial recessive IFN-ÎłR2 deficiency caused by mutations of the initiation or second codon.
  4. Successful unrelated cord blood transplant for complete IFN-gamma receptor 2 deficiency.
    Title: Successful unrelated cord blood transplant for complete IFN-Îł receptor 2 deficiency.
  5. A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations
    Title: A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations.
  6. The study identified an SNP rs9978223 on IFNGR2 gene, associated with increased risk in acute myocardial infarctionpatient from India.
    Title: Identification of a single nucleotide polymorphism indicative of high risk in acute myocardial infarction.
  7. A crystal structure of the extracellular part of human interferon-gamma receptor 2 (IFNGR2) was solved by molecular replacement at 1.8 A resolution.
    Title: Crystal structure of human interferon-Îł receptor 2 reveals the structural basis for receptor specificity.
  8. Data suggest IFNG plays various roles in dynamics of inflammation in subjects with underlying autoimmunity modeled as "canonical" and "non-canonical" pathways; in canonical pathway, IFNG dimerizes and binds to IFNGR1 in IFNGR1/IFNGR2 hetero-multimer; STAT transcription factors are involved in non-canonical pathway. (IFNG = interferon gamma; IFNGR = IFNG receptor; STAT = signal transducers and activators of transcription)
    Title: Current prospects of type II interferon Îł signaling and autoimmunity.
  9. The IFNGR2Q64R polymorphism is correlated with male sex and paranoid schizophrenia in Tunisians.
    Title: IFNGR2 genetic polymorphism associated with sex-specific paranoid schizophrenia risk.
  10. IFN-gammaR2 T168N mutant diffusion is confined by distinct actin nanodomains where conformational changes required for JAK/STAT activation by IFN-gamma could not occur. Removing IFN-gammaR2 T168N-bound galectins restored lateral diffusion in lipid nanodomains and JAK/STAT signaling in patient cells, whereas adding galectins impaired these processes in control cells.
    Title: Glycosylation-Dependent IFN-ÎłR Partitioning in Lipid and Actin Nanodomains Is Critical for JAK Activation.
Submit: New GeneRIF Correction See all GeneRIFs (49)

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
Immunodeficiency 28
MedGen: C4013947 OMIM: 614889 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
EBI GWAS Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
EBI GWAS Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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
Envelope surface glycoprotein gp120 env The mRNA expression levels for alpha-tubulin, TRADD, IFN-gamma R2, GAS1, MADD, NF-kappaB, I-kappa B, 14-3-3 protein, APaf1, PARP, IGF-1 receptor, RB1, Rb2/p130, ARC, and caspase 6 are upregulated in human neuronal cells after treatment with HIV-1 gp120 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables type II 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 cellular response to virus NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in defense response to virus IEA
Inferred from Electronic Annotation
more info
  
involved_in microglial cell activation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of NMDA glutamate receptor activity IEA
Inferred from Electronic Annotation
more info
  
involved_in response to virus TAS
Traceable Author Statement
more info
 PubMed 
involved_in type II interferon-mediated signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in type III interferon-mediated signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum HDA PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane HDA PubMed 
is_active_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 gamma receptor 2
Names
IFN-gamma receptor 2
IFN-gamma-R-beta
IFN-gamma-R2
interferon gamma receptor accessory factor-1
interferon gamma receptor beta chain
interferon gamma transducer 1

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_007570.2 RefSeqGene

    Range
    22904..57530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_67

mRNA and Protein(s)

  1. NM_001329128.2 → NP_001316057.1  interferon gamma receptor 2 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AP000299, AP000300, BQ008968
    Consensus CDS
    CCDS82660.1
    UniProtKB/TrEMBL
    E7EUY1
    Related
    ENSP00000371425.1, ENST00000381995.5
    Conserved Domains (1) summary
    cl21522
    Location:47 → 145
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

  2. NM_005534.4 → NP_005525.2  interferon gamma receptor 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_005525.2

    Status: REVIEWED

    Source sequence(s)
    AK292246, BC003624, CB992729, U05875
    Consensus CDS
    CCDS33544.1
    UniProtKB/Swiss-Prot
    P38484, Q9BTL5
    UniProtKB/TrEMBL
    A8K881
    Related
    ENSP00000290219.5, ENST00000290219.11
    Conserved Domains (1) summary
    cl21522
    Location:28 → 126
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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
    33402882..33437516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315970.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    5405..32088
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    31775143..31809789
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P38484.2 GenPept UniProtKB/Swiss-Prot:P38484

Gene LinkOut

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