• Gene id: 3566

Gene Summary

• Gene Symbol: IL4R   Gene   UCSC   Ensembl
• Aliases: CD124, IL-4RA, IL4RA
• Gene name: interleukin 4 receptor
• Alternate names: interleukin-4 receptor subunit alpha, IL-4 receptor subunit alpha, IL4R nirs variant 1, interleukin 13 receptor, interleukin-4 receptor alpha chain,
• Gene location: 16p12.1 (27313667: 27364777)     Exons: 16     NC_000016.10
• Gene summary(Entrez): 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 ce
• OMIM: 604411

Protein Summary

• Protein general information: P24394  
  • Name: Interleukin 4 receptor subunit alpha (IL 4 receptor subunit alpha) (IL 4R subunit alpha) (IL 4R alpha) (IL 4RA) (CD antigen CD124) [Cleaved into: Soluble interleukin 4 receptor subunit alpha (Soluble IL 4 receptor subunit alpha) (Soluble IL 4R alpha) (sIL
  • Length: 825  
  • Mass: 89658
  • Tissue specificity: Isoform 1 and isoform 2 are highly expressed in activated T-cells.
• Sequence:

  MGWLCSGLLFPVSCLVLLQVASSGNMKVLQEPTCVSDYMSISTCEWKMNGPTNCSTELRLLYQLVFLLSEAHTCI
  PENNGGAGCVCHLLMDDVVSADNYTLDLWAGQQLLWKGSFKPSEHVKPRAPGNLTVHTNVSDTLLLTWSNPYPPD
  NYLYNHLTYAVNIWSENDPADFRIYNVTYLEPSLRIAASTLKSGISYRARVRAWAQCYNTTWSEWSPSTKWHNSY
  REPFEQHLLLGVSVSCIVILAVCLLCYVSITKIKKEWWDQIPNPARSRLVAIIIQDAQGSQWEKRSRGQEPAKCP
  HWKNCLTKLLPCFLEHNMKRDEDPHKAAKEMPFQGSGKSAWCPVEISKTVLWPESISVVRCVELFEAPVECEEEE
  EVEEEKGSFCASPESSRDDFQEGREGIVARLTESLFLDLLGEENGGFCQQDMGESCLLPPSGSTSAHMPWDEFPS
  AGPKEAPPWGKEQPLHLEPSPPASPTQSPDNLTCTETPLVIAGNPAYRSFSNSLSQSPCPRELGPDPLLARHLEE
  VEPEMPCVPQLSEPTTVPQPEPETWEQILRRNVLQHGAAAAPVSAPTSGYQEFVHAVEQGGTQASAVVGLGPPGE
  AGYKAFSSLLASSAVSPEKCGFGASSGEEGYKPFQDLIPGCPGDPAPVPVPLFTFGLDREPPRSPQSSHLPSSSP
  EHLGLEPGEKVEDMPKPPLPQEQATDPLVDSLGSGIVYSALTCHLCGHLKQCHGQEDGGQTPVMASPCCGCCCGD
  RSSPPTTPLRAPDPSPGGVPLEASLCPASLAPSGISEKSKSSSSFHPAPGNAQSSSQTPKIVNFVSVGPTYMRVS

• Structural information:
  • Protein Domains: (125..22-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR003961  IPR036116  IPR003531  IPR013783  IPR015319  
  • Prosite: PS50853 PS01355
  • CDD: cd00063
  • PDB: 1IAR 1IRS 1ITE 3BPL 3BPN 3BPO 5E4E 6OEL
  • PDBsum: 1IAR 1IRS 1ITE 3BPL 3BPN 3BPO 5E4E 6OEL
  • DIP: 3223
  • STRING: ENSP00000379111
• Other Databases: GeneCards:  IL4R  Malacards:  IL4R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002532	production of molecular mediator involved in inflammatory response	IEA	biological process
GO:0004896	cytokine receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004913	interleukin-4 receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006955	immune response	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990834	response to odorant	IEA	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0030728	ovulation	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0090197	positive regulation of chemokine secretion	IEA	biological process
GO:0045630	positive regulation of T-helper 2 cell differentiation	IEA	biological process
GO:0043306	positive regulation of mast cell degranulation	IEA	biological process
GO:0042832	defense response to protozoan	IEA	biological process
GO:0002639	positive regulation of immunoglobulin production	IEA	biological process
GO:1901741	positive regulation of myoblast fusion	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0045626	negative regulation of T-helper 1 cell differentiation	IEA	biological process
GO:0043032	positive regulation of macrophage activation	IEA	biological process
GO:0016064	immunoglobulin mediated immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0035771	interleukin-4-mediated signaling pathway	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa04060	Cytokine-cytokine receptor interaction
hsa04630	JAK-STAT signaling pathway
hsa04659	Th17 cell differentiation
hsa04658	Th1 and Th2 cell differentiation
hsa04640	Hematopoietic cell lineage
hsa05321	Inflammatory bowel disease

Diseases

Associated diseases	References
Asthma	KEGG:H00079
Atopic dermatitis	KEGG:H01358
Asthma	KEGG:H00079
Primary progressive multiple sclerosis	PMID:11164908
pancreatic cancer	PMID:18758789
Multiple sclerosis	PMID:14712310
Asthma	PMID:15479272
Asthma	PMID:12940513
Interstitial lung disease	PMID:15161635
Atopic dermatitis	PMID:9392697
pancreatic ductal carcinoma	PMID:17942922
renal cell carcinoma	PMID:22317767
renal cell carcinoma	PMID:12171893
cholangiocarcinoma	PMID:18798553
Acne	PMID:22705603
Rheumatoid arthritis	PMID:24782180
Osteoarthritis	PMID:16647277
multiple myeloma	PMID:17315188
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq