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 famili... See more...

Aliases for IFNGR1 Gene

Aliases for IFNGR1 Gene

  • Interferon Gamma Receptor 1 2 3 4 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 and Immunodeficiency 27B. Among its related pathways are Toxoplasmosis and Osteoclast differentiation. Gene Ontology (GO) annotations related to this gene include cytokine receptor activity and interferon-gamma receptor activity. An important paralog of this gene is IL20RA.

UniProtKB/Swiss-Prot Summary 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). Plays an essential role in the IFN-gamma pathway that is required for the cellular response to infectious agents (PubMed:20015550).

Gene Wiki entry for IFNGR1 Gene

Additional gene information for IFNGR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IFNGR1 Gene

Genomics for IFNGR1 Gene

GeneHancer (GH) Regulatory Elements for IFNGR1 Gene

Promoters and enhancers for IFNGR1 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
GH06J137214 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +2.1 2058 6.4 ZBTB40 EP300 SIN3A NRF1 POLR2G SP1 NCOR1 ZIC2 POLR2A KDM6A IFNGR1 lnc-SLC35D3-3 lnc-IFNGR1-1 BCLAF1 MAP7 ARFGEF3 IL22RA2
GH06J137222 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.2 -3.9 -3930 3.5 TCF12 ZBTB11 AFF1 REST CTBP1 MYC TRIM22 POLR2A GATAD2B NFRKB IFNGR1 MAP3K5 piR-46847-233
GH06J137230 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.4 -12.8 -12813 5.2 TCF12 FOS EP300 ZBTB11 MEF2C TRIM22 BCL11A ZNF316 CBFB ZNF384 IFNGR1 MAP3K5 piR-46847-233
GH06J137169 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.9 +47.9 47942 4.2 EP300 ZBTB11 RELA CUX1 TOE1 HINFP GATAD2B CTBP1 RBM25 BCL11A IL22RA2 BCLAF1 IFNGR1 piR-51635
GH06J136782 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.4 +431.9 431862 12.4 RXRA HNRNPK ZNF217 CTCF ZSCAN5C SIN3A NRF1 GTF2E2 PHF8 JUND MAP3K5 BCLAF1 PEX7 IFNGR1 ENSG00000286646 LOC101928429
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IFNGR1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IFNGR1

Top Transcription factor binding sites by QIAGEN in the IFNGR1 gene promoter:
  • AML1a
  • FOXL1
  • FOXO4
  • HNF-4alpha2
  • p53
  • STAT1
  • STAT3

Genomic Locations for IFNGR1 Gene

Genomic Locations for IFNGR1 Gene
chr6:137,197,484-137,219,844
(GRCh38/hg38)
Size:
22,361 bases
Orientation:
Minus strand
chr6:137,518,621-137,540,586
(GRCh37/hg19)
Size:
21,966 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.
  • Glycosylation at Asn34, Asn79, Asn86, Asn179, and Asn240
  • Ubiquitination at Lys115, Lys279, Lys285, and Lys299
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • INGR1_HUMAN (294)

Antibody Products

  • Abcam antibodies for IFNGR1

No data available for DME Specific Peptides for IFNGR1 Gene

Domains & Families for IFNGR1 Gene

Gene Families for IFNGR1 Gene

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

Protein Domains for IFNGR1 Gene

Blocks:
  • Interferon-gamma receptor alpha chain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFNGR1 Gene

GenScript: Design optimal peptide antigens:
  • Truncated interferon-gamma receptor 1 (A5HJZ4_HUMAN)
  • cDNA FLJ53602, highly similar to Interferon-gamma receptor alpha chain (B4DFT7_HUMAN)
  • Interferon-gamma receptor alpha chain (E5QBZ2_HUMAN)
  • CDw119 (INGR1_HUMAN)
  • Interferon gamma receptor 1 (Q7Z687_HUMAN)

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

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). Plays an essential role in the IFN-gamma pathway that is required for the cellular response to infectious agents (PubMed:20015550).
GENATLAS Biochemistry:
interferon gamma,receptor 1 (binding subunit),96kDa,ubiquitously expressed,secreted by natural killer (NK) and T lymphocytes,with a small deletion hotspot

Phenotypes From GWAS Catalog for IFNGR1 Gene

Gene Ontology (GO) - Molecular Function for IFNGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IBA 21873635
GO:0004906 interferon-gamma receptor activity TAS 2971451
GO:0005515 protein binding IPI,IEA 7617032
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

Clone Products

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
extracellular 3
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IFNGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IBA --
GO:0005887 integral component of plasma membrane TAS 2971451
GO:0016020 membrane IEA --
GO:0016021 integral component of 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

Pathways by source for IFNGR1 Gene

2 BioSystems pathways for IFNGR1 Gene
2 GeneGo (Thomson Reuters) pathways for IFNGR1 Gene
  • Immune response Bacterial infections in normal airways
  • Immune response IFN gamma signaling pathway
10 Qiagen pathways for IFNGR1 Gene
  • Activation of NF-KappaB by PKR
  • all-trans-Retinoic Acid Mediated Apoptosis
  • Cellular Transformation by HTLV1
  • Colorectal Cancer Metastasis
  • HMGB1 Pathway
1 GeneTex pathway for IFNGR1 Gene

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:0001774 microglial cell activation ISS --
GO:0007165 signal transduction TAS 2971451
GO:0009615 response to virus TAS 2954953
GO:0010628 positive regulation of gene expression ISS --
GO:0019221 cytokine-mediated signaling pathway IBA 21873635
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 Target, binder 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

mRNA/cDNA for IFNGR1 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for IFNGR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for IFNGR1 Gene



Protein tissue co-expression partners for IFNGR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.4)
  • Spleen(3)
  • Lymph node(2.6)
  • Lung(2.5)
  • Intestine(2.4)
  • Liver(2.4)
  • Bone marrow(2.1)
  • Skin(2)

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
Regions:
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

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 31 30
  • 99.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IFNGR1 31 30
  • 76.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IFNGR1 31 30
  • 75.69 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ifngr1 17 31 30
  • 66.38 (n)
rat
(Rattus norvegicus)
Mammalia Ifngr1 30
  • 65.08 (n)
oppossum
(Monodelphis domestica)
Mammalia IFNGR1 31
  • 40 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFNGR1 31
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFNGR1 31 30
  • 48.23 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFNGR1 31
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ifngr1 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IFNGR1: view image

Paralogs for IFNGR1 Gene

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

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IFNGR1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
639444 Uncertain Significance: Disseminated atypical mycobacterial infection 137,204,498(-) A/G MISSENSE_VARIANT
639650 Uncertain Significance: Disseminated atypical mycobacterial infection 137,203,685(-) T/C MISSENSE_VARIANT
640371 Uncertain Significance: Disseminated atypical mycobacterial infection 137,198,635(-) G/C MISSENSE_VARIANT
641232 Uncertain Significance: Disseminated atypical mycobacterial infection 137,207,052(-) A/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
641874 Uncertain Significance: Disseminated atypical mycobacterial infection 137,206,212(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for IFNGR1 Gene

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)

Additional Variant Information 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

(34) MalaCards diseases for IFNGR1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 27a
  • imd27a
immunodeficiency 27b
  • imd27b
helicobacter pylori infection
  • helicobacter pylori infection, susceptibility to
atypical mycobacteriosis, familial
  • atypical mycobacterial infection, disseminated
salmonellosis
  • salmonella infection
- 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:11139207, ECO:0000269 PubMed:15589309, ECO:0000269 PubMed:16195661, ECO:0000269 PubMed:16715106, ECO:0000269 PubMed:17514500, ECO:0000269 PubMed:20015550, ECO:0000269 PubMed:20186794, ECO:0000269 PubMed:22708048, ECO:0000269 PubMed:25592983, ECO:0000269 PubMed:27868075, ECO:0000269 PubMed:28744922, 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, ECO:0000269 PubMed:11335768}. 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

Additional Disease Information for IFNGR1

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 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 RD (American journal of human genetics 2003) 3 4 23 41 54
  2. A novel single-nucleotide substitution, Leu 467 Pro, in the interferon-gamma receptor 1 gene associated with allergic diseases. (PMID: 12851715) Aoki M … Kondo N (International journal of molecular medicine 2003) 3 4 23 41 54
  3. Interferon-gamma gene and interferon-gamma receptor-1 gene polymorphisms in children with tuberculosis from Turkey. (PMID: 20055726) Onay H … Ozkinay F (Scandinavian journal of infectious diseases 2010) 3 23 41 54
  4. Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. (PMID: 20015550) van de Wetering D … van de Vosse E (Molecular immunology 2010) 3 4 23 54
  5. Contribution of interferon-gamma receptor 1 gene polymorphisms to pre-eclampsia in China. (PMID: 20070287) Chen LJ … Zou P (American journal of reproductive immunology (New York, N.Y. : 1989) 2010) 3 23 41 54

Products for IFNGR1 Gene

  • Signalway ELISA kits for IFNGR1
  • Signalway Proteins for IFNGR1

Sources for IFNGR1 Gene