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Aliases for IFNGR2 Gene

Aliases for IFNGR2 Gene

  • Interferon Gamma Receptor 2 2 3 5
  • Interferon Gamma Transducer 1 3 4
  • IFN-Gamma Receptor 2 3 4
  • IFN-Gamma-R-Beta 3 4
  • IFN-Gamma-R2 3 4
  • IFNGT1 3 4
  • AF-1 3 4
  • Interferon Gamma Receptor 2 (Interferon Gamma Transducer 1) 2
  • Interferon Gamma Receptor Accessory Factor-1 3
  • Interferon Gamma Receptor Accessory Factor 1 4
  • Interferon Gamma Receptor Beta Chain 3
  • Interferon Gamma Receptor Beta-Chain 4
  • IFGR2 3
  • IMD28 3

External Ids for IFNGR2 Gene

Previous HGNC Symbols for IFNGR2 Gene

  • IFNGT1

Previous GeneCards Identifiers for IFNGR2 Gene

  • GC21P031352
  • GC21P031435
  • GC21P033695
  • GC21P033697
  • GC21P034757
  • GC21P020243

Summaries for IFNGR2 Gene

Entrez Gene Summary for IFNGR2 Gene

  • 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]

GeneCards Summary for IFNGR2 Gene

IFNGR2 (Interferon Gamma Receptor 2) is a Protein Coding gene. Diseases associated with IFNGR2 include Immunodeficiency 28 and Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar2 Deficiency. Among its related pathways are Toll-like receptor signaling pathway and Immune response IFN gamma signaling pathway. Gene Ontology (GO) annotations related to this gene include cytokine receptor activity and interferon-gamma receptor activity. An important paralog of this gene is IL10RB.

UniProtKB/Swiss-Prot for IFNGR2 Gene

  • Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:8124716, PubMed:7673114,PubMed:7615558). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:8124716, PubMed:7673114, PubMed:15356148). Required for signal transduction in contrast to other receptor subunit responsible for ligand binding (PubMed:7673114).

Additional gene information for IFNGR2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFNGR2 Gene

Genomics for IFNGR2 Gene

GeneHancer (GH) Regulatory Elements for IFNGR2 Gene

Promoters and enhancers for IFNGR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I033400 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 586.4 +1.1 1053 6.7 MLX ARID4B SIN3A ZNF48 ZNF2 YY1 ZNF121 GLIS2 ATF7 RUNX3 IFNGR2 TMEM50B PAXBP1 IFNAR2 SON GART RPS5P3 ENSG00000231355 ENSG00000249624 DNAJC28
GH21I033359 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 33.4 -41.4 -41418 3.1 HDGF SMAD1 ARID4B SIN3A ZNF48 ZNF2 YY1 POLR2B ZNF207 ZNF143 GC21P033366 IFNGR2 SON PAXBP1 IFNAR2 TMEM50B DONSON IFNAR1 IL10RB GART
GH21I033378 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 28.8 -20.8 -20763 6.7 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B DMAP1 YBX1 IRF4 IFNGR2 GART IFNAR2 IL10RB IFNAR1 TMEM50B SON GC21P033366
GH21I033363 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 32 -38.6 -38595 1.4 CTCF ELF3 L3MBTL2 NR4A1 CEBPB ELF1 ATF4 CTBP1 FOXK2 SMARCA4 IFNGR2 IL10RB IFNAR1 LINC01548 IFNAR2 SON GART OLIG1 GC21P033366
GH21I033387 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 31.6 -14.8 -14800 1.5 SRF ATF4 ZBTB17 IFNGR2 IL10RB IFNAR2 IFNAR1 TMEM50B GART SON OLIG1 GC21P033366
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IFNGR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IFNGR2 gene promoter:

Genomic Locations for IFNGR2 Gene

Genomic Locations for IFNGR2 Gene
chr21:33,402,896-33,479,348
(GRCh38/hg38)
Size:
76,453 bases
Orientation:
Plus strand
chr21:34,775,202-34,851,655
(GRCh37/hg19)

Genomic View for IFNGR2 Gene

Genes around IFNGR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFNGR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFNGR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFNGR2 Gene

Proteins for IFNGR2 Gene

  • Protein details for IFNGR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P38484-INGR2_HUMAN
    Recommended name:
    Interferon gamma receptor 2
    Protein Accession:
    P38484
    Secondary Accessions:
    • Q9BTL5

    Protein attributes for IFNGR2 Gene

    Size:
    337 amino acids
    Molecular mass:
    37806 Da
    Quaternary structure:
    • Heterodimer with IFNGR1, to form the IFNG receptor complex (PubMed:7615558). Interacts (via intracellular domain) with JAK2 (PubMed:7615558, PubMed:7673114).

    Three dimensional structures from OCA and Proteopedia for IFNGR2 Gene

neXtProt entry for IFNGR2 Gene

Post-translational modifications for IFNGR2 Gene

  • Glycosylation at posLast=5656, isoforms=85, posLast=110110, posLast=137137, posLast=219219, and isoforms=231

No data available for DME Specific Peptides for IFNGR2 Gene

Domains & Families for IFNGR2 Gene

Gene Families for IFNGR2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins

Protein Domains for IFNGR2 Gene

Graphical View of Domain Structure for InterPro Entry

P38484

UniProtKB/Swiss-Prot:

INGR2_HUMAN :
  • Belongs to the type II cytokine receptor family.
Family:
  • Belongs to the type II cytokine receptor family.
genes like me logo Genes that share domains with IFNGR2: view

Function for IFNGR2 Gene

Molecular function for IFNGR2 Gene

GENATLAS Biochemistry:
interferon gamma receptor 2,56kDa,accessory factor
UniProtKB/Swiss-Prot Function:
Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:8124716, PubMed:7673114,PubMed:7615558). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:8124716, PubMed:7673114, PubMed:15356148). Required for signal transduction in contrast to other receptor subunit responsible for ligand binding (PubMed:7673114).

Phenotypes From GWAS Catalog for IFNGR2 Gene

Gene Ontology (GO) - Molecular Function for IFNGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004906 interferon-gamma receptor activity TAS 9616207
GO:0004920 interleukin-10 receptor activity IBA --
genes like me logo Genes that share ontologies with IFNGR2: view
genes like me logo Genes that share phenotypes with IFNGR2: view

Human Phenotype Ontology for IFNGR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFNGR2 Gene

MGI Knock Outs for IFNGR2:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IFNGR2 Gene

Localization for IFNGR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFNGR2 Gene

Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Cytoplasm. Note=Has low cell surface expression and high cytoplasmic expression in T cells. The bias towards cytoplasmic expression may be due to ligand-independent receptor internalization and recycling. {ECO:0000269 PubMed:10605012, ECO:0000269 PubMed:15356148}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IFNGR2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
golgi apparatus 4
extracellular 3
nucleus 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IFNGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum HDA,IEA 16780588
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with IFNGR2: view

Pathways & Interactions for IFNGR2 Gene

genes like me logo Genes that share pathways with IFNGR2: view

SIGNOR curated interactions for IFNGR2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IFNGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway TAS 9616207
GO:0009615 response to virus TAS 8124716
GO:0051607 defense response to virus IEA --
GO:0060333 interferon-gamma-mediated signaling pathway TAS --
GO:0060334 regulation of interferon-gamma-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with IFNGR2: view

Drugs & Compounds for IFNGR2 Gene

(6) Drugs for IFNGR2 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Interferon gamma-1b Approved, Investigational Pharma Target, binder 0
IFN-GAMMA Pharma 0

(3) Additional Compounds for IFNGR2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IFNGR2: view

Transcripts for IFNGR2 Gene

Unigene Clusters for IFNGR2 Gene

Interferon gamma receptor 2 (interferon gamma transducer 1):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFNGR2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8
SP1: -
SP2:
SP3: - - -
SP4: - -

Relevant External Links for IFNGR2 Gene

GeneLoc Exon Structure for
IFNGR2
ECgene alternative splicing isoforms for
IFNGR2

Expression for IFNGR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IFNGR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IFNGR2 Gene

This gene is overexpressed in Whole Blood (x9.1).

NURSA nuclear receptor signaling pathways regulating expression of IFNGR2 Gene:

IFNGR2

SOURCE GeneReport for Unigene cluster for IFNGR2 Gene:

Hs.634632

mRNA Expression by UniProt/SwissProt for IFNGR2 Gene:

P38484-INGR2_HUMAN
Tissue specificity: Expressed in T-cells (at protein level).

Evidence on tissue expression from TISSUES for IFNGR2 Gene

  • Lung(4.6)
  • Skin(4.6)
  • Nervous system(3.8)
  • Blood(2.6)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IFNGR2 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • immune
  • lymphatic
  • respiratory
Organs:
Thorax:
  • lung
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with IFNGR2: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for IFNGR2 Gene

Orthologs for IFNGR2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IFNGR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFNGR2 33 34
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia LOC100856276 33
  • 79.14 (n)
-- 34
  • 71 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
cow
(Bos Taurus)
Mammalia IFNGR2 34 33
  • 74.84 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ifngr2 33
  • 70.42 (n)
mouse
(Mus musculus)
Mammalia Ifngr2 16 34 33
  • 68.87 (n)
oppossum
(Monodelphis domestica)
Mammalia IFNGR2 34
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFNGR2 34
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFNGR2 33 34
  • 48.31 (n)
lizard
(Anolis carolinensis)
Reptilia IFNGR2 34
  • 31 (a)
OneToOne
Species where no ortholog for IFNGR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IFNGR2 Gene

ENSEMBL:
Gene Tree for IFNGR2 (if available)
TreeFam:
Gene Tree for IFNGR2 (if available)

Paralogs for IFNGR2 Gene

Paralogs for IFNGR2 Gene

genes like me logo Genes that share paralogs with IFNGR2: view

Variants for IFNGR2 Gene

Sequence variations from dbSNP and Humsavar for IFNGR2 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1012938610 uncertain-significance, Immunodeficiency 28 33,403,580(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs141609920 likely-benign, Immunodeficiency 28 33,421,522(+) G/A coding_sequence_variant, synonymous_variant
rs17878711 likely-benign, benign, not provided, Immunodeficiency 28 33,427,015(+) A/G coding_sequence_variant, missense_variant
rs17885407 likely-benign, Immunodeficiency 28 33,436,926(+) G/A coding_sequence_variant, synonymous_variant
rs193922682 uncertain-significance, Interferon gamma receptor deficiency 33,432,890(+) C/ intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IFNGR2 Gene

Variant ID Type Subtype PubMed ID
dgv2381n106 CNV deletion 24896259
esv3646904 CNV gain 21293372
esv3893406 CNV loss 25118596
nsv1072597 CNV deletion 25765185
nsv479787 CNV novel sequence insertion 20440878
nsv834087 CNV gain 17160897
nsv965982 CNV duplication 23825009

Variation tolerance for IFNGR2 Gene

Residual Variation Intolerance Score: 59.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.96; 59.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IFNGR2 Gene

Human Gene Mutation Database (HGMD)
IFNGR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFNGR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFNGR2 Gene

Disorders for IFNGR2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for IFNGR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

INGR2_HUMAN
  • Immunodeficiency 28 (IMD28) [MIM:614889]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, 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. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. 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. IMD28 manifests early in life, with severe, often fatal, infection. {ECO:0000269 PubMed:10608793, ECO:0000269 PubMed:15924140, ECO:0000269 PubMed:22902943, ECO:0000269 PubMed:23963039}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IFNGR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IFNGR2: view

No data available for Genatlas for IFNGR2 Gene

Publications for IFNGR2 Gene

  1. Analyses of associations with asthma in four asthma population samples from Canada and Australia. (PMID: 19247692) Daley D … Hudson TJ (Human genetics 2009) 3 22 44 58
  2. The interferon-gamma receptor gene polymorphisms (Val14Met and Gln64Arg) are not associated with systemic lupus erythematosus in Chinese patients. (PMID: 17618444) Yao X … Liu J (Archives of dermatological research 2007) 3 22 44 58
  3. Polymorphism within the interferon-gamma/receptor complex is associated with pulmonary tuberculosis. (PMID: 16690980) Cooke GS … Hill AV (American journal of respiratory and critical care medicine 2006) 3 22 44 58
  4. Genetic polymorphism of interferon-gamma, interferon-gamma receptor, and interferon regulatory factor-1 genes in patients with hepatitis B virus infection. (PMID: 16944293) Cheong JY … Kim JH (Biochemical genetics 2006) 3 22 44 58
  5. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. (PMID: 15924140) Vogt G … Casanova JL (Nature genetics 2005) 3 4 22 58

Products for IFNGR2 Gene

Sources for IFNGR2 Gene

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