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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 autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Th17 cell differentiation | ||
2 | Interferon gamma signaling | ||
3 | JAK-STAT signaling pathway | ||
4 | Toxoplasmosis |
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|
.34
|
5 | Toll-like Receptor Signaling Pathway |
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 | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||
SP4: | - | - |
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 |
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 |
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 |
|
|