IL4R (interleukin 4 receptor)

Gene

• Entrez ID: 3566
• Gene name: Interleukin 4 receptor
• Gene symbol: IL4R
• Synonyms: CD124, IL-4RA, IL4RA
• Chromosome: 16
• Chromosome location: 16p12.1
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801275	A>G	Risk-factor	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1805010	A>C,G,T	Protective, pathogenic	Missense variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs6413500	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	3 prime UTR variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043562	hsa-miR-331-3p	CLASH	23622248
MIRT497252	hsa-miR-4724-5p	PAR-CLIP	22291592
MIRT497251	hsa-miR-4780	PAR-CLIP	22291592
MIRT497250	hsa-miR-2277-3p	PAR-CLIP	22291592
MIRT497252	hsa-miR-4724-5p	PAR-CLIP	22291592
MIRT497251	hsa-miR-4780	PAR-CLIP	22291592
MIRT497250	hsa-miR-2277-3p	PAR-CLIP	22291592
MIRT1064987	hsa-miR-1267	CLIP-seq
MIRT1064988	hsa-miR-3908	CLIP-seq
MIRT1064989	hsa-miR-3909	CLIP-seq
MIRT1064990	hsa-miR-3942-5p	CLIP-seq
MIRT1064991	hsa-miR-4703-5p	CLIP-seq
MIRT1064992	hsa-miR-4766-3p	CLIP-seq
MIRT1064993	hsa-miR-622	CLIP-seq
MIRT1064994	hsa-miR-935	CLIP-seq
MIRT2015444	hsa-miR-125a-5p	CLIP-seq
MIRT2015445	hsa-miR-125b	CLIP-seq
MIRT2015446	hsa-miR-1264	CLIP-seq
MIRT2015447	hsa-miR-1285	CLIP-seq
MIRT2015448	hsa-miR-1297	CLIP-seq
MIRT2015449	hsa-miR-1827	CLIP-seq
MIRT2015450	hsa-miR-1909	CLIP-seq
MIRT2015451	hsa-miR-205	CLIP-seq
MIRT2015452	hsa-miR-26a	CLIP-seq
MIRT2015453	hsa-miR-26b	CLIP-seq
MIRT2015454	hsa-miR-2861	CLIP-seq
MIRT2015455	hsa-miR-3127-3p	CLIP-seq
MIRT2015456	hsa-miR-3151	CLIP-seq
MIRT2015457	hsa-miR-3187-5p	CLIP-seq
MIRT2015458	hsa-miR-3665	CLIP-seq
MIRT2015459	hsa-miR-378g	CLIP-seq
MIRT2015460	hsa-miR-3978	CLIP-seq
MIRT2015461	hsa-miR-4297	CLIP-seq
MIRT2015462	hsa-miR-4319	CLIP-seq
MIRT2015463	hsa-miR-4465	CLIP-seq
MIRT2015464	hsa-miR-4486	CLIP-seq
MIRT2015465	hsa-miR-4640-5p	CLIP-seq
MIRT2015466	hsa-miR-4670-3p	CLIP-seq
MIRT2015467	hsa-miR-4697-3p	CLIP-seq
MIRT2015468	hsa-miR-4705	CLIP-seq
MIRT2015469	hsa-miR-4726-5p	CLIP-seq
MIRT2015470	hsa-miR-4732-3p	CLIP-seq
MIRT2015471	hsa-miR-4736	CLIP-seq
MIRT2015472	hsa-miR-4771	CLIP-seq
MIRT2015473	hsa-miR-485-3p	CLIP-seq
MIRT2015474	hsa-miR-512-5p	CLIP-seq
MIRT2015475	hsa-miR-541	CLIP-seq
MIRT2015476	hsa-miR-545	CLIP-seq
MIRT2015477	hsa-miR-612	CLIP-seq
MIRT2015478	hsa-miR-654-5p	CLIP-seq
MIRT2015479	hsa-miR-670	CLIP-seq
MIRT2015480	hsa-miR-940	CLIP-seq
MIRT2015444	hsa-miR-125a-5p	CLIP-seq
MIRT2015445	hsa-miR-125b	CLIP-seq
MIRT2015462	hsa-miR-4319	CLIP-seq
MIRT2015470	hsa-miR-4732-3p	CLIP-seq
MIRT2451783	hsa-miR-645	CLIP-seq
MIRT2015479	hsa-miR-670	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002532	Process	Production of molecular mediator involved in inflammatory response	IEA
GO:0002639	Process	Positive regulation of immunoglobulin production	IEA
GO:0004913	Function	Interleukin-4 receptor activity	TAS	2307934
GO:0005515	Function	Protein binding	IPI	8266078, 8816495, 9392697, 9651359, 10219247, 18243101, 23597562
GO:0005615	Component	Extracellular space	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	2307934
GO:0006955	Process	Immune response	TAS	2307934
GO:0007165	Process	Signal transduction	TAS	2307934
GO:0016064	Process	Immunoglobulin mediated immune response	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0030728	Process	Ovulation	IEA
GO:0032722	Process	Positive regulation of chemokine production	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0035771	Process	Interleukin-4-mediated signaling pathway	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042832	Process	Defense response to protozoan	IEA
GO:0043032	Process	Positive regulation of macrophage activation	IEA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043306	Process	Positive regulation of mast cell degranulation	IEA
GO:0043627	Process	Response to estrogen	IEA
GO:0045626	Process	Negative regulation of T-helper 1 cell differentiation	IEA
GO:0045630	Process	Positive regulation of T-helper 2 cell differentiation	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	24906148
GO:1901741	Process	Positive regulation of myoblast fusion	IEA
GO:1990834	Process	Response to odorant	IEA

Other IDs

• MIM: 147781
• HGNC: 6015
• e!Ensembl: ENSG00000077238

Protein

• UniProt ID: P24394
• Protein 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
• Protein function: Receptor for both interleukin 4 and interleukin 13 (PubMed:17030238). Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, che
• PDB: 1IAR, 1IRS, 3BPL, 3BPN, 3BPO, 5E4E, 6OEL, 6WGL, 8K4Q
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09238	IL4Ra_N	28 → 121	Interleukin-4 receptor alpha chain, N-terminal	Domain

• Sequence:

  MGWLCSGLLFPVSCLVLLQVASSGNMKVLQEPTCVSDYMSISTCEWKMNGPTNCSTELRL
  LYQLVFLLSEAHTCIPENNGGAGCVCHLLMDDVVSADNYTLDLWAGQQLLWKGSFKPSEH
  VKPRAPGNLTVHTNVSDTLLLTWSNPYPPDNYLYNHLTYAVNIWSENDPADFRIYNVTYL
  EPSLRIAASTLKSGISYRARVRAWAQCYNTTWSEWSPSTKWHNSYREPFEQHLLLGVSVS
  CIVILAVCLLCYVSITKIKKEWWDQIPNPARSRLVAIIIQDAQGSQWEKRSRGQEPAKCP
  HWKNCLTKLLPCFLEHNMKRDEDPHKAAKEMPFQGSGKSAWCPVEISKTVLWPESISVVR
  CVELFEAPVECEEEEEVEEEKGSFCASPESSRDDFQEGREGIVARLTESLFLDLLGEENG
  GFCQQDMGESCLLPPSGSTSAHMPWDEFPSAGPKEAPPWGKEQPLHLEPSPPASPTQSPD
  NLTCTETPLVIAGNPAYRSFSNSLSQSPCPRELGPDPLLARHLEEVEPEMPCVPQLSEPT
  TVPQPEPETWEQILRRNVLQHGAAAAPVSAPTSGYQEFVHAVEQGGTQASAVVGLGPPGE
  AGYKAFSSLLASSAVSPEKCGFGASSGEEGYKPFQDLIPGCPGDPAPVPVPLFTFGLDRE
  PPRSPQSSHLPSSSPEHLGLEPGEKVEDMPKPPLPQEQATDPLVDSLGSGIVYSALTCHL
  CGHLKQCHGQEDGGQTPVMASPCCGCCCGDRSSPPTTPLRAPDPSPGGVPLEASLCPASL
  APSGISEKSKSSSSFHPAPGNAQSSSQTPKIVNFVSVGPTYMRVS

• Sequence length: 825

Pathways

KEGG:

Cytokine-cytokine receptor interaction
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
Pathways in cancer
Inflammatory bowel disease

Reactome:

Interleukin-4 and Interleukin-13 signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Asthma, Childhood asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	27130862, 30929738, 31619474, 31036433, 30929738
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	22317767, 30472377
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	30472377, 22317767, 22317767, 30472377

Unknown
Disease name	Disease term	dbSNP ID	References
Allergic rhinitis	Allergic rhinitis (disorder)
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma	rs137853247	30472377, 22317767
Eczema	Eczema		30595370
Ige responsiveness, atopic	IgE RESPONSIVENESS, ATOPIC
Respiratory tract diseases	Respiratory Tract Diseases		30595370