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Aliases for IFNGR1 Gene

Aliases for IFNGR1 Gene

  • Interferon Gamma Receptor 1 2 3
  • IFN-Gamma Receptor 1 3 4
  • CD119 Antigen 3 4
  • IFN-Gamma-R1 3 4
  • CDw119 3 4
  • Interferon-Gamma Receptor Alpha Chain 3
  • Immune Interferon Receptor 1 3
  • Antiviral Protein, Type 2 3
  • AVP, Type 2 3
  • IMD27A 3
  • IMD27B 3
  • CD119 3
  • IFNGR 3

External Ids for IFNGR1 Gene

Previous HGNC Symbols for IFNGR1 Gene

  • IFNGR

Previous GeneCards Identifiers for IFNGR1 Gene

  • GC06M137141
  • GC06M137365
  • GC06M137499
  • GC06M137560
  • GC06M135080
  • GC06M137518

Summaries for IFNGR1 Gene

Entrez Gene Summary for IFNGR1 Gene

  • This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]

GeneCards Summary for IFNGR1 Gene

IFNGR1 (Interferon Gamma Receptor 1) is a Protein Coding gene. Diseases associated with IFNGR1 include immunodeficiency 27a, mycobacteriosis, ar and h. pylori infection. Among its related pathways are TGF-Beta Pathway and Interferon Pathway. GO annotations related to this gene include cytokine binding and interferon-gamma receptor activity.

UniProtKB/Swiss-Prot for IFNGR1 Gene

  • Receptor for interferon gamma. Two receptors bind one interferon gamma dimer

Gene Wiki entry for IFNGR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFNGR1 Gene

Genomics for IFNGR1 Gene

Regulatory Elements for IFNGR1 Gene

Genomic Location for IFNGR1 Gene

Start:
137,197,484 bp from pter
End:
137,219,449 bp from pter
Size:
21,966 bases
Orientation:
Minus strand

Genomic View for IFNGR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IFNGR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFNGR1 Gene

Proteins for IFNGR1 Gene

  • Protein details for IFNGR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15260-INGR1_HUMAN
    Recommended name:
    Interferon gamma receptor 1
    Protein Accession:
    P15260
    Secondary Accessions:
    • B4DFT7
    • E1P587
    • Q53Y96

    Protein attributes for IFNGR1 Gene

    Size:
    489 amino acids
    Molecular mass:
    54405 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for IFNGR1 Gene

    Alternative splice isoforms for IFNGR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFNGR1 Gene

Proteomics data for IFNGR1 Gene at MOPED

Post-translational modifications for IFNGR1 Gene

  • Phosphorylated at Ser/Thr residues
  • Ubiquitination at Lys115, Lys279, Lys285, and Lys299
  • Glycosylation at Asn34, Asn79, Asn86, Asn179, and Asn240
  • Modification sites at PhosphoSitePlus

Other Protein References for IFNGR1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for IFNGR1 (IFN-gamma R1/CD119)

Protein Products

No data available for DME Specific Peptides for IFNGR1 Gene

Domains for IFNGR1 Gene

Gene Families for IFNGR1 Gene

HGNC:
  • CD :CD molecules
  • IFN :Interferons
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P15260

UniProtKB/Swiss-Prot:

INGR1_HUMAN :
  • P15260
Domain:
  • Contains 2 fibronectin type-III domains.
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the type II cytokine receptor family.
genes like me logo Genes that share domains with IFNGR1: view

Function for IFNGR1 Gene

Molecular function for IFNGR1 Gene

GENATLAS Biochemistry: interferon gamma,receptor 1 (binding subunit),96kDa,ubiquitously expressed,secreted by natural killer (NK) and T lymphocytes,with a small deletion hotspot
UniProtKB/Swiss-Prot Function: Receptor for interferon gamma. Two receptors bind one interferon gamma dimer

Gene Ontology (GO) - Molecular Function for IFNGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IBA --
GO:0004906 interferon-gamma receptor activity TAS 2971451
GO:0005515 protein binding IPI 15780933
GO:0019955 cytokine binding IEA --
genes like me logo Genes that share ontologies with IFNGR1: view
genes like me logo Genes that share phenotypes with IFNGR1: view

Animal Models for IFNGR1 Gene

MGI Knock Outs for IFNGR1:

Animal Model Products

CRISPR Products

miRNA for IFNGR1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IFNGR1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for IFNGR1 Gene

Localization for IFNGR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFNGR1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IFNGR1 Gene COMPARTMENTS Subcellular localization image for IFNGR1 gene
Compartment Confidence
plasma membrane 4
extracellular 2
nucleus 2
cytosol 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for IFNGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2971451
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with IFNGR1: view

Pathways for IFNGR1 Gene

genes like me logo Genes that share pathways with IFNGR1: view

PCR Array Products

Gene Ontology (GO) - Biological Process for IFNGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 2971451
GO:0009615 response to virus TAS 2954953
GO:0019221 cytokine-mediated signaling pathway TAS --
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 IFNGR1: view

Compounds for IFNGR1 Gene

(1) Drugbank Compounds for IFNGR1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Interferon gamma-1b
  • IFN-gamma
82115-62-6 target binder

(7) Novoseek inferred chemical compound relationships for IFNGR1 Gene

Compound -log(P) Hits PubMed IDs
indole 33.7 1
gp 130 23.5 1
phorbol 19.8 2
deferoxamine 10.4 1
oxygen 0 1
genes like me logo Genes that share compounds with IFNGR1: view

Transcripts for IFNGR1 Gene

Unigene Clusters for IFNGR1 Gene

Interferon gamma receptor 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IFNGR1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFNGR1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - -
SP8: - - -
SP9: - - - - -

Relevant External Links for IFNGR1 Gene

GeneLoc Exon Structure for
IFNGR1
ECgene alternative splicing isoforms for
IFNGR1

Expression for IFNGR1 Gene

mRNA expression in normal human tissues for IFNGR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IFNGR1 Gene

This gene is overexpressed in Whole Blood (8.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IFNGR1 Gene

SOURCE GeneReport for Unigene cluster for IFNGR1 Gene Hs.520414

genes like me logo Genes that share expressions with IFNGR1: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for IFNGR1 Gene

Orthologs for IFNGR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IFNGR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFNGR1 35
  • 99.66 (n)
  • 99.59 (a)
IFNGR1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IFNGR1 35
  • 76.57 (n)
  • 61.2 (a)
IFNGR1 36
  • 60 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IFNGR1 35
  • 75.69 (n)
  • 61.1 (a)
IFNGR1 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ifngr1 35
  • 66.38 (n)
  • 51.83 (a)
Ifngr1 16
Ifngr1 36
  • 51 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IFNGR1 36
  • 40 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFNGR1 36
  • 35 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ifngr1 35
  • 65.08 (n)
  • 50.22 (a)
chicken
(Gallus gallus)
Aves IFNGR1 35
  • 48.23 (n)
  • 34.54 (a)
IFNGR1 36
  • 29 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFNGR1 36
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ifngr1 35
  • 48.19 (n)
  • 35.44 (a)
Species with no ortholog for IFNGR1:
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IFNGR1 Gene

ENSEMBL:
Gene Tree for IFNGR1 (if available)
TreeFam:
Gene Tree for IFNGR1 (if available)

Paralogs for IFNGR1 Gene

No data available for Paralogs for IFNGR1 Gene

Variants for IFNGR1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IFNGR1 Gene

P15260-INGR1_HUMAN
A genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori infection [MIM:600263]

Sequence variations from dbSNP and Humsavar for IFNGR1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs11914 -- 137,198,451(-) CTTTC(G/T)AGTAT synonymous-codon, reference
rs798242 -- 137,199,558(+) tataa(A/T)atata intron-variant
rs798243 -- 137,199,568(+) atata(A/T)tatat intron-variant
rs798244 -- 137,199,575(+) atata(A/T)tatat intron-variant
rs798245 -- 137,199,582(+) atata(A/T)aatat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IFNGR1 Gene

Variant ID Type Subtype PubMed ID
nsv470863 CNV Loss 18288195
dgv2012e1 CNV Complex 17122850
esv32557 CNV Loss 17666407
esv1157499 CNV Insertion 17803354
nsv886688 CNV Loss 21882294
nsv886689 CNV Loss 21882294
nsv886690 CNV Gain 21882294

Relevant External Links for IFNGR1 Gene

HapMap Linkage Disequilibrium report
IFNGR1
Human Gene Mutation Database (HGMD)
IFNGR1
Locus Specific Mutation Databases (LSDB)
IFNGR1

Disorders for IFNGR1 Gene

(4) OMIM Diseases for IFNGR1 Gene (107470)

UniProtKB/Swiss-Prot

INGR1_HUMAN
  • Immunodeficiency 27A (IMD27A) [MIM:209950]: 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. {ECO:0000269 PubMed:10811850, ECO:0000269 PubMed:9389728}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Immunodeficiency 27B (IMD27B) [MIM:615978]: 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. IMD27B commonly presents with recurrent, moderately severe infections with environmental mycobacteria or BCG. Salmonellosis is present in about 5% of patients. {ECO:0000269 PubMed:10192386}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for IFNGR1 Gene

(25) Novoseek inferred disease relationships for IFNGR1 Gene

Disease -log(P) Hits PubMed IDs
mycobacterial infection 85.7 13
immune disorder 48.2 3
tuberculosis 46 19
osteomyelitis 43.3 4
immunodeficiency 40 5

Genatlas disease for IFNGR1 Gene

susceptibility to BCG and non tuberculous mycobacterial infections (interferon gamma,receptor 1 deficiency),severe form,associated with a defect in mature granulomas in patients with complete deficiency,familial or sporadic

Relevant External Links for IFNGR1

Genetic Association Database (GAD)
IFNGR1
Human Genome Epidemiology (HuGE) Navigator
IFNGR1
genes like me logo Genes that share disorders with IFNGR1: view

Publications for IFNGR1 Gene

  1. Genomewide linkage analysis identifies polymorphism in the human interferon-gamma receptor affecting Helicobacter pylori infection. (PMID: 12516030) Thye T. … Horstmann R.D. (Am. J. Hum. Genet. 2003) 3 4 23 48
  2. Genetic polymorphisms in the promoter of the interferon gamma receptor 1 gene are associated with atopic cataracts. (PMID: 17251453) Matsuda A. … Kinoshita S. (Invest. Ophthalmol. Vis. Sci. 2007) 3 23 25 48
  3. 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 48
  4. Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea. (PMID: 12743658) Lee S.B. … Chae G.T. (Immunogenetics 2003) 3 23 48
  5. Interferon-gamma receptor-1 gene polymorphism in tuberculosis patients from Croatia. (PMID: 12753505) Fraser D.A. … Dembic Z. (Scand. J. Immunol. 2003) 3 23 48

Products for IFNGR1 Gene

Sources for IFNGR1 Gene

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