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This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
IL4R (Interleukin 4 Receptor) is a Protein Coding gene. Diseases associated with IL4R include Ige Responsiveness, Atopic and Human Immunodeficiency Virus Type 1. Among its related pathways are AKT Siganaling Pathway and Development IGF-1 receptor signaling. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity, downstream of receptor and interleukin-4 receptor activity. An important paralog of this gene is CSF2RB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004896 | cytokine receptor activity | IEA | -- |
GO:0004913 | interleukin-4 receptor activity | TAS | 2307934 |
GO:0005515 | protein binding | IPI | 8266078 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 2307934 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | PEDF Induced Signaling |
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
|
Glucocorticoid Receptor Signaling
.43
|
2 | TGF-Beta Pathway |
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
|
JAK-STAT Pathway
.57
JNK Pathway
.51
|
3 | Th17 cell differentiation | ||
4 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
5 | Jak Stat Signaling Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0002532 | production of molecular mediator involved in inflammatory response | IEA | -- |
GO:0002639 | positive regulation of immunoglobulin production | IEA | -- |
GO:0006955 | immune response | TAS | 2307934 |
GO:0007165 | signal transduction | TAS | 2307934 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | · | 12d | · | 12e |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IL4R 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IL4R 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IL4R 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Il4r 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Il4ra 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IL4R 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IL4R 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IL4RA 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708028 | Benign: not provided | 27,358,957(+) | G/A | MISSENSE_VARIANT | |
710743 | Benign: not provided | 27,358,967(+) | C/G | SYNONYMOUS_VARIANT | |
718605 | Benign: not provided | 27,344,896(+) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
750336 | Likely Benign: not provided | 27,359,004(+) | G/C | INTRON_VARIANT | |
768763 | Benign: not provided | 27,355,905(+) | C/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1333n106 | CNV | deletion | 24896259 |
dgv4962n54 | CNV | loss | 21841781 |
dgv4963n54 | CNV | loss | 21841781 |
dgv811e212 | CNV | loss | 25503493 |
dgv812e212 | CNV | loss | 25503493 |
esv24900 | CNV | loss | 19812545 |
esv2664327 | CNV | deletion | 23128226 |
esv2762344 | CNV | loss | 21179565 |
esv3553287 | CNV | deletion | 23714750 |
esv3638324 | CNV | loss | 21293372 |
nsv1059454 | CNV | gain | 25217958 |
nsv516053 | CNV | gain+loss | 19592680 |
nsv571721 | CNV | loss | 21841781 |
nsv833179 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ige responsiveness, atopic |
|
|
human immunodeficiency virus type 1 |
|
|
allergic rhinitis |
|
|
rhinitis |
|
|
beta-lactam allergy |
|
|