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Aliases for IFNGR2 Gene

Aliases for IFNGR2 Gene

  • Interferon Gamma Receptor 2 (Interferon Gamma Transducer 1) 2 3 5
  • Interferon Gamma Receptor Accessory Factor 1 3 4
  • Interferon Gamma Transducer 1 3 4
  • IFN-Gamma Receptor 2 3 4
  • IFN-Gamma-R2 3 4
  • IFNGT1 3 4
  • AF-1 3 4
  • Interferon Gamma Receptor Accessory Factor-1 3
  • Interferon Gamma Receptor Beta Chain 3
  • 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 (Interferon Gamma Transducer 1)) is a Protein Coding gene. Diseases associated with IFNGR2 include Immunodeficiency 28, Mycobacteriosis and Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar2 Deficiency. Among its related pathways are Toxoplasmosis and IL-2 Pathway. GO annotations related to this gene include cytokine receptor activity and interferon-gamma receptor activity.

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).

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

Genomics for IFNGR2 Gene

Regulatory Elements for IFNGR2 Gene

Enhancers for IFNGR2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IFNGR2 on UCSC Golden Path with GeneCards custom track

Promoters for IFNGR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IFNGR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for IFNGR2 Gene

Chromosome:
21
Start:
33,402,896 bp from pter
End:
33,479,348 bp from pter
Size:
76,453 bases
Orientation:
Plus strand

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).

neXtProt entry for IFNGR2 Gene

Proteomics data for IFNGR2 Gene at MOPED

Post-translational modifications for IFNGR2 Gene

  • Glycosylation at Asn 56, Asn 85, Asn 110, Asn 137, Asn 219, and Asn 231
  • Modification sites at PhosphoSitePlus

Other Protein References for IFNGR2 Gene

No data available for DME Specific Peptides for IFNGR2 Gene

Domains & Families for IFNGR2 Gene

Protein Domains for IFNGR2 Gene

Graphical View of Domain Structure for InterPro Entry

P38484

UniProtKB/Swiss-Prot:

INGR2_HUMAN :
  • Contains 2 fibronectin type-III domains.
  • Belongs to the type II cytokine receptor family.
Domain:
  • Contains 2 fibronectin type-III domains.
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).
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:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for IFNGR2 Gene COMPARTMENTS Subcellular localization image for IFNGR2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
extracellular 3
golgi apparatus 2
nucleus 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for IFNGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0016021 integral component of membrane 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

None

Drugs & Compounds for IFNGR2 Gene

(7) 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 binder, Target 0
IFN-GAMMA Pharma 0

(2) 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:

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 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).

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).
genes like me logo Genes that share expression patterns with IFNGR2: view

Primer Products

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
cow
(Bos Taurus)
Mammalia IFNGR2 35
  • 74.84 (n)
  • 64.78 (a)
IFNGR2 36
  • 60 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC100856276 35
  • 79.14 (n)
  • 72.96 (a)
-- 36
  • 71 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ifngr2 35
  • 68.87 (n)
  • 61.06 (a)
Ifngr2 16
Ifngr2 36
  • 60 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IFNGR2 35
  • 99.31 (n)
  • 98.81 (a)
IFNGR2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ifngr2 35
  • 70.42 (n)
  • 61.92 (a)
oppossum
(Monodelphis domestica)
Mammalia IFNGR2 36
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFNGR2 36
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFNGR2 35
  • 48.31 (n)
  • 36.7 (a)
IFNGR2 36
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFNGR2 36
  • 31 (a)
OneToOne
Species with no ortholog for IFNGR2:
  • 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

No data available for Paralogs for IFNGR2 Gene

Variants for IFNGR2 Gene

Sequence variations from dbSNP and Humsavar for IFNGR2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs9808753 - 33,415,005(+) CTACC(A/G)AGTGC reference, missense
rs4986958 - 33,414,987(+) TAGCA(C/G/T)GAGGC reference, missense
rs17878639 - 33,426,910(+) ACATT(A/G)AGGTG reference, missense
rs17878711 - 33,427,015(+) GGGAA(A/G)AAGGA reference, missense
VAR_023281 Immunodeficiency 28 (IMD28)

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

Variant ID Type Subtype PubMed ID
nsv834087 CNV Gain 17160897
nsv913723 CNV Loss 21882294
nsv913724 CNV Loss 21882294

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)

Relevant External Links for IFNGR2 Gene

Human Gene Mutation Database (HGMD)
IFNGR2

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

Disorders for IFNGR2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for IFNGR2 Gene - From: OMIM, ClinVar, GeneTests, 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.

Relevant External Links for IFNGR2

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

No data available for Genatlas for IFNGR2 Gene

Publications for IFNGR2 Gene

  1. Polymorphisms in the genes encoding interferon-gamma and interferon-gamma receptors in multiple sclerosis. (PMID: 15182327) Schrijver H.M. … Uitdehaag B.M. (Eur. J. Immunogenet. 2004) 3 23 48 67
  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. (Arch. Dermatol. Res. 2007) 3 23 25
  3. Analyses of associations with asthma in four asthma population samples from Canada and Australia. (PMID: 19247692) Daley D. … Hudson T.J. (Hum. Genet. 2009) 3 23
  4. The C-terminus of interferon gamma receptor beta chain (IFNgammaR2) has antiapoptotic activity as a Bax inhibitor. (PMID: 19657228) Gomez J.A. … Matsuyama S. (Cancer Biol. Ther. 2009) 3 23
  5. Polymorphism within the interferon-gamma/receptor complex is associated with pulmonary tuberculosis. (PMID: 16690980) Cooke G.S. … Hill A.V. (Am. J. Respir. Crit. Care Med. 2006) 3 23

Products for IFNGR2 Gene

Sources for IFNGR2 Gene

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