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Aliases for IFNGR1 Gene

Aliases for IFNGR1 Gene

  • Interferon Gamma Receptor 1 2 3 5
  • IFN-Gamma Receptor 1 3 4
  • IFN-Gamma-R-Alpha 3 4
  • CD119 Antigen 3 4
  • IFN-Gamma-R1 3 4
  • CDw119 3 4
  • Interferon-Gamma Receptor Alpha Chain 3
  • Interferon Gamma Receptor Alpha-Chain 4
  • 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 Immunodeficiency 27B, Mycobacteriosis, Ad. Among its related pathways are Toxoplasmosis and Tuberculosis. GO annotations related to this gene include cytokine receptor activity and interferon-gamma receptor activity.

UniProtKB/Swiss-Prot for IFNGR1 Gene

  • Associates with IFNGR2 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:2971451, PubMed:7617032, PubMed:10986460). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:7673114).

Gene Wiki entry for IFNGR1 Gene

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

Genomics for IFNGR1 Gene

Regulatory Elements for IFNGR1 Gene

Enhancers for IFNGR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G137222 1.6 FANTOM5 ENCODE dbSUPER 19.3 -3.9 -3931 3.5 PKNOX1 FOXA2 ATF1 YY1 ZNF766 ELK1 GATA2 FOS ZNF263 CAVIN1 IFNGR1 MAP3K5 LOC105378017
GH06G137230 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.4 -12.8 -12796 5.3 HDAC1 ELF3 TBP BMI1 ZNF766 EGR1 CBX5 FOS RELB ETV6 IFNGR1 MAP3K5 LOC105378017
GH06G137147 1.4 FANTOM5 Ensembl ENCODE 16.2 +71.1 71084 1.9 SOX13 JUN MAX CEBPG RAD21 YY1 TCF7L2 SOX5 JUNB CEBPB IFNGR1 IL22RA2 PIR45634 GC06P137115
GH06G137164 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +54.4 54417 2.1 HDGF PKNOX1 CBX3 TBL1XR1 BMI1 RAD21 ZNF766 GATA2 ZNF207 RELB IFNGR1 PIR45634 IL22RA2
GH06G137240 1.4 Ensembl ENCODE dbSUPER 13.1 -21.5 -21501 2.7 HNRNPUL1 FOXA2 ATF1 THRB ZSCAN9 ZBTB40 RARA YY1 GATA4 CREM IFNGR1 IL22RA2 OLIG3 LOC105378017
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IFNGR1 on UCSC Golden Path with GeneCards custom track

Promoters for IFNGR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000203591 1344 2601 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B YY1

Genomic Location for IFNGR1 Gene

Chromosome:
6
Start:
137,197,484 bp from pter
End:
137,219,844 bp from pter
Size:
22,361 bases
Orientation:
Minus strand

Genomic View for IFNGR1 Gene

Genes around IFNGR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFNGR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:9367779). Heterodimer with IFNGR2, to form the IFNG receptor complex (PubMed:7615558). Interacts with JAK1 (PubMed:7615558).

    Three dimensional structures from OCA and Proteopedia for IFNGR1 Gene

    Alternative splice isoforms for IFNGR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFNGR1 Gene

Post-translational modifications for IFNGR1 Gene

  • Phosphorylated at Ser/Thr residues.
  • Ubiquitination at posLast=115115 and posLast=285285
  • Glycosylation at posLast=3434, isoforms=279, posLast=8686, isoforms=2179, and isoforms=240
  • Modification sites at PhosphoSitePlus

Other Protein References for IFNGR1 Gene

Antibody Products

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

No data available for DME Specific Peptides for IFNGR1 Gene

Domains & Families for IFNGR1 Gene

Gene Families for IFNGR1 Gene

Graphical View of Domain Structure for InterPro Entry

P15260

UniProtKB/Swiss-Prot:

INGR1_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 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:
Associates with IFNGR2 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:2971451, PubMed:7617032, PubMed:10986460). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:7673114).

Gene Ontology (GO) - Molecular Function for IFNGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004906 interferon-gamma receptor activity TAS 2971451
GO:0005515 protein binding IPI 8156998
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

Human Phenotype Ontology for IFNGR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFNGR1 Gene

MGI Knock Outs for IFNGR1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

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

Localization for IFNGR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFNGR1 Gene

Cell membrane; Single-pass type I membrane protein.

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 IFNGR1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
extracellular 3
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for IFNGR1 Gene

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

Pathways & Interactions for IFNGR1 Gene

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

SIGNOR curated interactions for IFNGR1 Gene

Activates:
Is activated by:
Is inactivated by:

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: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 IFNGR1: view

Drugs & Compounds for IFNGR1 Gene

(7) Drugs for IFNGR1 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 IFNGR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Inhibitory RNA Products

Clone Products

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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x8.1).

Protein differential expression in normal tissues from HIPED for IFNGR1 Gene

This gene is overexpressed in Pancreas (48.4) and Plasma (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IFNGR1 Gene



Protein tissue co-expression partners for IFNGR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of IFNGR1 Gene:

IFNGR1

SOURCE GeneReport for Unigene cluster for IFNGR1 Gene:

Hs.520414

Evidence on tissue expression from TISSUES for IFNGR1 Gene

  • Nervous system(4.9)
  • Blood(3.3)
  • Spleen(3)
  • Lymph node(2.5)
  • Intestine(2.4)
  • Liver(2.4)
  • Bone marrow(2.1)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IFNGR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • respiratory
  • skeleton
Organs:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with IFNGR1: view

Primer 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 34
  • 99.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IFNGR1 35 34
  • 76.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IFNGR1 34 35
  • 75.69 (n)
mouse
(Mus musculus)
Mammalia Ifngr1 16 35 34
  • 66.38 (n)
rat
(Rattus norvegicus)
Mammalia Ifngr1 34
  • 65.08 (n)
oppossum
(Monodelphis domestica)
Mammalia IFNGR1 35
  • 40 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFNGR1 35
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFNGR1 35 34
  • 48.23 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFNGR1 35
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ifngr1 34
  • 48.19 (n)
Species where no ortholog for IFNGR1 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)
  • 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

INGR1_HUMAN-P15260
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
rs104893973 Pathogenic, Immunodeficiency 27A (IMD27A) [MIM:209950] 137,206,249(-) TAATA(C/T)TTCTG reference, missense
rs104893974 Pathogenic, Immunodeficiency 27A (IMD27A) [MIM:209950] 137,206,279(-) TGCCT(A/G)CATCA reference, missense
rs121912715 Pathogenic 137,206,981(-) TACCG(A/C/G/T)AGAGG reference, missense
rs387906572 Pathogenic 137,204,432(-) CCCTT(A/C)AGTTT reference, stop-gained
rs387906593 Pathogenic 137,219,326(-) CAGCA(A/G/T)GGCTC upstream-variant-2KB, reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv1157499 CNV insertion 17803354
esv2759473 CNV loss 17122850
esv32557 CNV loss 17666407
nsv470863 CNV loss 18288195
nsv604734 CNV loss 21841781
nsv604735 CNV gain 21841781
nsv604736 CNV loss 21841781

Variation tolerance for IFNGR1 Gene

Residual Variation Intolerance Score: 70.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.33; 63.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IFNGR1 Gene

Human Gene Mutation Database (HGMD)
IFNGR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFNGR1

Disorders for IFNGR1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for IFNGR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 46 64
  2. Interferon-gamma gene and interferon-gamma receptor-1 gene polymorphisms in children with tuberculosis from Turkey. (PMID: 20055726) Onay H. … Ozkinay F. (Scand. J. Infect. Dis. 2010) 3 22 46 64
  3. Contribution of interferon-gamma receptor 1 gene polymorphisms to pre-eclampsia in China. (PMID: 20070287) Chen L.J. … Zou P. (Am. J. Reprod. Immunol. 2010) 3 22 46 64
  4. A regulatory polymorphism in interferon-gamma receptor 1 promoter is associated with the susceptibility to chronic hepatitis B virus infection. (PMID: 19488747) Zhou J. … Zheng B.J. (Immunogenetics 2009) 3 22 46 64
  5. The interferon gamma receptor 1 (IFNGR1) -56C/T gene polymorphism is associated with increased risk of early gastric carcinoma. (PMID: 18593809) Canedo P. … Machado J.C. (Gut 2008) 3 22 46 64

Products for IFNGR1 Gene

Sources for IFNGR1 Gene

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