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

Gene ID: 3460, updated on 20-Dec-2019

Summary

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
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

Genomic context

See IFNGR2 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 (33402896..33437521)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34775202..34809828)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene interleukin 10 receptor subunit beta Neighboring gene interferon alpha and beta receptor subunit 1 Neighboring gene upstream transcription factor 1 pseudogene 1 Neighboring gene transmembrane protein 50B Neighboring gene ribosomal protein S5 pseudogene 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C28

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

NHGRI GWAS Catalog

Description
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
NHGRI GWA Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interferon-gamma receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
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 
interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
regulation of interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
response to virus TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum HDA PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane HDA 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 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)

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_001329128.1NP_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:47145
    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_005534.3NP_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)
    AI824138, AK292246, BC003624, BG391103, CB992729, U05875
    Consensus CDS
    CCDS33544.1
    UniProtKB/Swiss-Prot
    P38484
    UniProtKB/TrEMBL
    A8K881
    Related
    ENSP00000290219.5, ENST00000290219.10
    Conserved Domains (1) summary
    cl21522
    Location:28126
    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: 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
    33402896..33437521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529553.1XP_011527855.1  interferon gamma receptor 2 isoform X1

    Conserved Domains (1) summary
    cl21522
    Location:53151
    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. XM_011529554.2XP_011527856.1  interferon gamma receptor 2 isoform X2

    Conserved Domains (1) summary
    cl21522
    Location:30128
    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 ...

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315970.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    5405..32093
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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