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The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. Multiple transcript variants encoding at least two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
IFNAR2 (Interferon Alpha And Beta Receptor Subunit 2) is a Protein Coding gene. Diseases associated with IFNAR2 include Immunodeficiency 45 and Measles. Among its related pathways are Immune response IFN alpha/beta signaling pathway and Immune response Role of DAP12 receptors in NK cells. Gene Ontology (GO) annotations related to this gene include protein kinase binding and type I interferon binding. An important paralog of this gene is ENSG00000249624.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004896 | cytokine receptor activity | IBA | 21873635 |
GO:0004905 | type I interferon receptor activity | TAS,IDA | 7665574 |
GO:0005515 | protein binding | IEA,IPI | 7665574 |
GO:0019901 | protein kinase binding | IPI | 7759950 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS,IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS,IDA | 7759950 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Toll-like Receptor Signaling Pathway |
.34
|
|
2 | Measles |
.35
|
.33
|
3 | Immune response IFN alpha/beta signaling pathway |
Immune response IFN alpha/beta signaling pathway
.74
|
|
4 | PI3K-Akt signaling pathway | ||
5 | JAK-STAT signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007166 | cell surface receptor signaling pathway | TAS | 8798579 |
GO:0007259 | JAK-STAT cascade | TAS | 7588638 |
GO:0009615 | response to virus | TAS | 7588638 |
GO:0019221 | cytokine-mediated signaling pathway | IBA | 21873635 |
GO:0035455 | response to interferon-alpha | IMP | 26424569 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
interferon alfa-2a, recombinant | Approved, Investigational | Pharma | Target, binder | 0 | ||
Interferon alfacon-1 | Approved, Investigational | Pharma | Target, binder | 13 | ||
Interferon alfa-n1 | Approved, Investigational | Pharma | Target, agonist, binder | 0 | ||
Interferon alfa-n3 | Approved, Investigational | Pharma | Target, agonist, binder | 0 | ||
Interferon beta-1b | Approved | Pharma | Target, agonist, binder | 95 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IFNAR2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOC100856468 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | IFNAR2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ifnar2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ifnar2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IFNAR2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IFNAR2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IFNAR2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IFNAR2 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
721701 | Benign: not provided | 33,263,398(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
746174 | Likely Benign: not provided | 33,262,966(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
775442 | Benign: not provided | 33,252,732(+) | C/G | MISSENSE_VARIANT | |
rs1131668 | Benign: not specified | 33,262,573(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
rs2229207 | Risk Factor: Hepatitis b virus, susceptibility to. - | 33,241,945(+) | T/Cp.Phe8Ser | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv7814n54 | CNV | loss | 21841781 |
esv2723349 | CNV | deletion | 23290073 |
esv2723351 | CNV | deletion | 23290073 |
esv990908 | CNV | deletion | 20482838 |
nsv1136627 | CNV | deletion | 24896259 |
nsv587367 | CNV | loss | 21841781 |
nsv587368 | CNV | loss | 21841781 |
nsv587369 | CNV | loss | 21841781 |
nsv587370 | CNV | loss | 21841781 |
nsv587371 | CNV | loss | 21841781 |
nsv587372 | CNV | loss | 21841781 |
nsv587373 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency 45 |
|
|
measles |
|
|
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
|
|
mumps |
|
|
rubella |
|
|