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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 auto... See more...
Aliases for IFNGR2 Gene
Aliases for IFNGR2 Gene
External Ids for IFNGR2 Gene
- HGNC: 5440
- Entrez Gene: 3460
- Ensembl: ENSG00000159128
- OMIM: 147569
- UniProtKB: P38484
Previous HGNC Symbols for IFNGR2 Gene
- IFNGT1
Previous GeneCards Identifiers for IFNGR2 Gene
- GC21P031352
- GC21P031435
- GC21P033695
- GC21P033697
- GC21P034757
- GC21P020243
Summaries 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 all-trans-Retinoic Acid Mediated Apoptosis and Tuberculosis. Gene Ontology (GO) annotations related to this gene include cytokine receptor activity and interferon-gamma receptor activity. An important paralog of this gene is IL20RB.
UniProtKB/Swiss-Prot Summary 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
- HGNC(5440)
- Entrez Gene(3460)
- Ensembl(ENSG00000159128)
- OMIM(147569)
- UniProtKB(P38484)
- Open Targets Platform(ENSG00000159128)
- Monarch Initiative
- Search for IFNGR2 at DataMed
- Search for IFNGR2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IFNGR2 Gene
Genomics for IFNGR2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for IFNGR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around IFNGR2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IFNGR2
- Top Transcription factor binding sites by QIAGEN in the IFNGR2 gene promoter:
-
- AML1a
- C/EBPbeta
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
- STAT1
- STAT1alpha
- STAT1beta
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)
- Size:
- 76,454 bases
- Orientation:
- Plus strand
Genomic View for IFNGR2 Gene
Genes around IFNGR2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.11 by HGNC
- 21q22.11 by Entrez Gene
- 21q22.11 by Ensembl
IFNGR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Post-translational modifications for IFNGR2 Gene
Other Protein References for IFNGR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ INGR2 Polyclonal Antibody and Immunotag™ INGR2 Antibody
- Novus Biologicals Antibodies for IFNGR2
- Invitrogen Antibodies for IFNGR2 (AFLGC-IFNGR2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for IFNGR2
- Sino Biological Antibodies for IFNGR2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for IFNGR2
- Origene Custom Protein Services for IFNGR2
- Sino Biological Recombinant Proteins for IFNGR2
- Sino Biological Cell Lysates for IFNGR2
- antibodies-online: Show 7 available IFNGR2 Proteins ranked by validation data
- Compare Top IFNGR2 Proteins
-
Quality Products:
-
Abcam proteins for IFNGR2
Assay Products
- antibodies-online: Show 5 available IFNGR2 Elisa Kits ranked by validation data
- Compare Top IFNGR2 Elisa Kits
-
Quality Products:
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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for IFNGR2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA, FLJ94659, highly similar to Homo sapiens interferon gamma receptor 2 (interferon gammatransducer 1) (IFNGR2), mRNA (A8K881_HUMAN)
- Interferon gamma transducer 1 (INGR2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P38484- Family:
-
- Belongs to the type II cytokine receptor family.
Function for IFNGR2 Gene
Molecular function for IFNGR2 Gene
- 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).
- GENATLAS Biochemistry:
- interferon gamma receptor 2,56kDa,accessory factor
Phenotypes From GWAS Catalog for IFNGR2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004896 | cytokine receptor activity | IBA | 21873635 |
| GO:0004906 | interferon-gamma receptor activity | TAS | 9616207 |
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for IFNGR2 Gene
- MGI mutant phenotypes for IFNGR2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for IFNGR2:
Animal Models for IFNGR2 Gene
- MGI Knock Outs for IFNGR2:
-
- Ifngr2 Ifngr2<tm1Pbro>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IFNGR2 - Select products 50% OFF >
- * IFNGR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IFNGR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IFNGR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for IFNGR2
miRNA for IFNGR2 Gene
- miRTarBase miRNAs that target IFNGR2
-
- mmu-miR-362-5p (MIRT009026)
- mmu-miR-149-5p (MIRT014671)
- hsa-miR-103a-3p (MIRT027145)
- hsa-miR-26b-5p (MIRT030035)
- hsa-miR-1296-5p (MIRT036154)
- hsa-miR-15b-5p (MIRT046534)
- hsa-miR-593-3p (MIRT298242)
- hsa-miR-6885-3p (MIRT531216)
- hsa-miR-4639-5p (MIRT531217)
- hsa-miR-4666a-5p (MIRT531218)
- hsa-miR-4275 (MIRT531219)
- hsa-miR-7151-5p (MIRT531220)
- mmu-miR-3471 (MIRT598613)
- mmu-miR-5125 (MIRT598614)
- mmu-miR-3110-5p (MIRT598615)
- mmu-miR-150-5p (MIRT598616)
- mmu-miR-5127 (MIRT598617)
- mmu-miR-105 (MIRT598618)
- mmu-miR-292a-3p (MIRT598619)
- mmu-miR-290a-3p (MIRT598620)
- mmu-miR-467a-5p (MIRT598621)
- mmu-miR-665-3p (MIRT598622)
- mmu-miR-376c-3p (MIRT602171)
- mmu-miR-129-2-3p (MIRT602172)
- mmu-miR-129-1-3p (MIRT602173)
- mmu-miR-3064-5p (MIRT602174)
- mmu-miR-3085-3p (MIRT602175)
- mmu-miR-380-3p (MIRT602176)
- mmu-miR-3087-3p (MIRT602177)
- mmu-miR-292a-5p (MIRT606377)
- mmu-miR-290a-5p (MIRT606378)
- mmu-miR-1196-5p (MIRT606379)
- mmu-miR-193a-3p (MIRT606380)
- mmu-miR-193b-3p (MIRT606381)
- hsa-miR-632 (MIRT711306)
- hsa-miR-4288 (MIRT711307)
- hsa-miR-6818-3p (MIRT711308)
- hsa-miR-346 (MIRT711309)
- hsa-miR-6895-3p (MIRT711310)
- hsa-miR-6876-3p (MIRT711311)
- hsa-miR-626 (MIRT711312)
- hsa-miR-769-5p (MIRT711313)
- hsa-miR-4786-5p (MIRT711314)
- hsa-miR-6893-3p (MIRT711315)
- hsa-miR-370-3p (MIRT711316)
- hsa-miR-654-3p (MIRT711317)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IFNGR2
- Browse OriGene Inhibitory RNA Products For IFNGR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IFNGR2
Clone Products
- Applied Biological Materials (abm): Clones for IFNGR2 - Select products 50% OFF >
- * IFNGR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for IFNGR2
- Addgene plasmids for IFNGR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IFNGR2
Cell Line Products
-
Horizon Cell Lines for IFNGR2
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 4 |
| golgi apparatus | 4 |
| extracellular | 3 |
| nucleus | 3 |
| cytosol | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
- Golgi apparatus (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA,HDA | 16780588 |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
Pathways & Interactions for IFNGR2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Th17 cell differentiation | ||
| 2 | Interferon gamma signaling | ||
| 3 | JAK-STAT signaling pathway | ||
| 4 | Toxoplasmosis |
.34
|
.34
|
| 5 | Toll-like Receptor Signaling Pathway | ||
Pathways by source for IFNGR2 Gene
1 BioSystems pathway for IFNGR2 Gene
5 Reactome pathways for IFNGR2 Gene
17 KEGG pathways for IFNGR2 Gene
2 GeneGo (Thomson Reuters) pathways for IFNGR2 Gene
- Immune response Bacterial infections in normal airways
- Immune response IFN gamma signaling pathway
2 R&D Systems pathways for IFNGR2 Gene
8 Qiagen pathways for IFNGR2 Gene
- all-trans-Retinoic Acid Mediated Apoptosis
- Cellular Transformation by HTLV1
- Colorectal Cancer Metastasis
- HMGB1 Pathway
- iNOS Signaling
1 GeneTex pathway for IFNGR2 Gene
Interacting Proteins for IFNGR2 Gene
Selected Interacting proteins:
P38484-INGR2_HUMAN
ENSP00000290219
for IFNGR2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for IFNGR2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001774 | microglial cell activation | IEA | -- |
| GO:0007166 | cell surface receptor signaling pathway | TAS | 9616207 |
| GO:0009615 | response to virus | TAS | 8124716 |
| GO:0019221 | cytokine-mediated signaling pathway | IBA | 21873635 |
| GO:0051607 | defense response to virus | IEA | -- |
Transcripts for IFNGR2 Gene
mRNA/cDNA for IFNGR2 Gene
- 2 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000290219 2221 nts (view in UCSC)
- ENST00000381995 1742 nts (view in UCSC)
- ENST00000405436 1684 nts (view in UCSC)
- ENST00000421802 727 nts (view in UCSC)
- ENST00000439213 906 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IFNGR2 - Select products 50% OFF >
- * IFNGR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IFNGR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IFNGR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for IFNGR2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IFNGR2
- Browse OriGene Inhibitory RNA Products For IFNGR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IFNGR2
Clone Products
- Applied Biological Materials (abm): Clones for IFNGR2 - Select products 50% OFF >
- * IFNGR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for IFNGR2
- Addgene plasmids for IFNGR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IFNGR2
| 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
Expression for IFNGR2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
-
Testis (Reproductive System)
- Pre-Sertoli Cells Testis Cord
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
- Thymus (Hematopoietic System)
-
Colon (Gastrointestinal Tract)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for IFNGR2 Gene
This gene is overexpressed in Whole Blood (x9.1).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IFNGR2
SOURCE GeneReport for Unigene cluster for IFNGR2 Gene:
Hs.634632mRNA 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
- Skin(4.7)
- Lung(4.7)
- Nervous system(4.1)
- Blood(3.2)
- Spleen(3)
- Lymph node(2.9)
- Intestine(2.6)
- Bone marrow(2.6)
- Kidney(2.4)
- Liver(2.4)
- Heart(2.4)
- Muscle(2.2)
- Thyroid gland(2.2)
- Stomach(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for IFNGR2 Gene
Germ Layers:
- endoderm
- mesoderm
Systems:
- immune
- lymphatic
- respiratory
Regions:
Thorax:
- lung
General:
- blood
- bone marrow
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for IFNGR2
-
OriGene qPCR primer pairs and template standards for IFNGR2
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IFNGR2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LOC100856276 30 |
|
||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | IFNGR2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ifngr2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ifngr2 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | IFNGR2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | IFNGR2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | IFNGR2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | IFNGR2 31 |
|
OneToOne |
- Species where no ortholog for IFNGR2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for IFNGR2: view image
Paralogs for IFNGR2 Gene
Variants for IFNGR2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IFNGR2 Gene
| SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636564 | Uncertain Significance: not provided | 33,432,280(+) | A/T | MISSENSE_VARIANT | |
| 640908 | Uncertain Significance: Immunodeficiency 28 | 33,432,756(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 654567 | Uncertain Significance: Immunodeficiency 28 | 33,427,003(+) | C/T | MISSENSE_VARIANT | |
| 662505 | Uncertain Significance: Immunodeficiency 28 | 33,436,862(+) | C/T | MISSENSE_VARIANT | |
| 664258 | Uncertain Significance: Immunodeficiency 28 | 33,436,955(+) | C/G | MISSENSE_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFNGR2 Gene
Disorders for IFNGR2 Gene
(15) MalaCards diseases for IFNGR2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 28 |
|
|
| autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency |
|
|
| beta-lactam allergy |
|
|
| tuberculous salpingitis |
|
|
| axillary adenitis |
|
|
Search IFNGR2 in MalaCards
View complete list of genes associated with diseases
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
- Open Targets Platform
No data available for Genatlas for IFNGR2 Gene
Publications for IFNGR2 Gene
- Analyses of associations with asthma in four asthma population samples from Canada and Australia. (PMID: 19247692) Daley D … Hudson TJ (Human genetics 2009) 3 23 41
- 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 23 41
- 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 23 41
- 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 23 41
- Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. (PMID: 15924140) Vogt G … Casanova JL (Nature genetics 2005) 3 4 23
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Products for IFNGR2 Gene
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Sources for IFNGR2 Gene
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