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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IL4R Gene

protein-coding GIFtS: 66
GCID: GC16P027325

Interleukin 4 Receptor

Microbiology & Infectious Diseases Congress

128 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Interleukin 4 Receptor¹ ²		Interleukin-4 Receptor Alpha Chain²
IL4RA² ³ ⁵		Interleukin-4 Receptor Subunit Alpha²
IL-4RA² ³		IL-4R-alpha³
IL-4 Receptor Subunit Alpha² ³		CD124 Antigen³
CD124²		IL-4R Subunit Alpha³
IL4R Nirs Variant 1²

External Ids:	HGNC: 6015¹	Entrez Gene: 3566²	Ensembl: ENSG00000077238⁷	OMIM: 147781⁵	UniProtKB: P24394³

Export aliases for IL4R gene to outside databases

Previous GC identifers: GC16P026753 GC16P027424 GC16P027252 GC16P027317 GC16P027291 GC16P027248 GC16P025413

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IL4R Gene:

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)

GeneCards Summary for IL4R Gene:

IL4R (interleukin 4 receptor) is a protein-coding gene. Diseases associated with IL4R include atopy, and eczema, and among its related super-pathways are STAT3 Pathway and MAPK Family Pathway. GO annotations related to this gene include interleukin-4 receptor activity and receptor signaling protein activity.

UniProtKB/Swiss-Prot: IL4RA_HUMAN, P24394

Function: Receptor for both interleukin 4 and interleukin 13. 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,

chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation

of insulin receptor substrates, IRS1/IRS2

Function: Soluble IL4R (sIL4R) inhibits IL4-mediated cell proliferation and IL5 up-regulation by T-cells

Gene Wiki entry for IL4R (Interleukin-4 receptor) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NT_010393.16 NC_018927.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the IL4R gene promoter:
STAT1 GATA-3 STAT1beta STAT1alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): IL4R promoter sequence

Search SABiosciences Chromatin IP Primers for IL4R

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IL4R

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.1-p11.2 Ensembl cytogenetic band: 16p12.1 HGNC cytogenetic band: 16p12.1-p11.2

IL4R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL4R gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P027325: view genomic region (about GC identifiers)

Start:	27,324,989 bp from pter	End:	27,376,099 bp from pter
Size:	51,111 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IL4RA_HUMAN, P24394 (See protein sequence)

Recommended Name: Interleukin-4 receptor subunit alpha precursor

Size: 825 amino acids; 89658 Da

Subunit: The functional IL4 receptor is formed by initial binding of IL4 to IL4R. Subsequent recruitment to the complex

of the common gamma chain, in immune cells, creates a type I receptor and, in non-immune cells, of IL13RA1 forms a

type II receptor. IL4R can also interact with the IL13/IL13RA1 complex to form a similar type II receptor. Interacts

with PIK3C3 (By similarity). Interacts with the SH2-containing phosphatases, PTPN6/SHIP1, PTPN11/SHIP2 and INPP5D/SHIP

(By similarity). Interacts with JAK1 through a Box 1-containing region; inhibited by SOCS5. Interacts with SOCS5;

inhibits IL4 signaling (By similarity)

Subcellular location: Cell membrane; Single-pass type I membrane protein

Subcellular location: Isoform 2: Secreted

6 PDB 3D structures from and Proteopedia for IL4R:

1IAR (3D)

1IRS (3D)

1ITE (3D)

3BPL (3D)

3BPN (3D)

3BPO (3D)

Secondary accessions: B9EKU8 H3BSY5 Q96P01 Q9H181 Q9H182 Q9H183 Q9H184 Q9H185 Q9H186 Q9H187 Q9H188

Alternative splicing: 2 isoforms: P24394-1 P24394-2

Explore the universe of human proteins at neXtProt for IL4R: NX_P24394

Explore proteomics data for IL4R at MOPED

Post-translational modifications:

UniProtKB: On IL4 binding, phosphorylated on C-terminal tyrosine residues. Phosphorylation on any one of tyrosine residues,

Tyr-575, Tyr-603 or Tyr-631, is required for STAT6-induced gene induction

UniProtKB: The soluble form (sIL4R/IL4BP) can also be produced by proteolytic cleavage at the cell surface (shedding) by a

metalloproteinase

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P24394

IL4R Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (4 alternative transcripts):

NP_000409.1 NP_001244335.1 NP_001244336.1 NP_001244926.1

ENSEMBL proteins:

ENSP00000455632 ENSP00000379111 ENSP00000457131 ENSP00000454725 ENSP00000454684

ENSP00000441667 ENSP00000455714 ENSP00000456248 ENSP00000456930 ENSP00000456669

ENSP00000461607 ENSP00000461268 ENSP00000170630 ENSP00000410322 ENSP00000370309

Human Recombinant Protein Products for IL4R:

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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate for IL4R OriGene Custom MassSpec OriGene Custom Protein Services for IL4R
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	Novus Biologicals IL4R Proteins Novus Biologicals IL4R Lysates
	Sino Biological Recombinant Protein for IL4R Sino Biological Cell Lysate for IL4R
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for IL4R

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IEA	--
GO:0005887	integral to plasma membrane	TAS	2307934
GO:0016021	integral to membrane	--	--

IL4R for ontologies About GeneDecksing

IL4R Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of IL4R
	R&D Systems Antibodies for IL4R (IL-4 R alpha)
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	Abcam antibodies for IL4R
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	ThermoFisher Antibodies for IL4R
	LSBio Antibodies in human, mouse, rat for IL4R

Assay Products for IL4R:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for IL4R
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for IL4R Cloud-Clone Corp. CLIAs for IL4R

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

CD: CD molecules

IL: Interleukins and interleukin receptors

IUPHAR Guide to PHARMACOLOGY protein family classification: Interleukin 4 receptor

IL-2 receptor family

4 InterPro protein domains:

IPR003961 Fibronectin_type3

IPR013783 Ig-like_fold

IPR003531 Hempt_rcpt_S_F1_CS

IPR015319 IL4Ra_N

Graphical View of Domain Structure for InterPro Entry P24394

ProtoNet protein and cluster: P24394

1 Blocks protein domain: IPB003531 Short hematopoietin receptor

UniProtKB/Swiss-Prot: IL4RA_HUMAN, P24394

Domain: The extracellular domain represents the IL4 binding protein (IL4BP)

Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular

transport and cell-surface receptor binding

Domain: The box 1 motif is required for JAK interaction and/or activation

Domain: Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif

(ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2

domain of several SH2-containing phosphatases

Similarity: Belongs to the type I cytokine receptor family. Type 4 subfamily

Similarity: Contains 1 fibronectin type-III domain

IL4R for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: IL4RA_HUMAN, P24394

Function: Receptor for both interleukin 4 and interleukin 13. 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,

chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation

of insulin receptor substrates, IRS1/IRS2

Function: Soluble IL4R (sIL4R) inhibits IL4-mediated cell proliferation and IL5 up-regulation by T-cells

Genatlas biochemistry entry for IL4R:

interleukin 4,receptor (see IL2RG),expressed on T-cell,with a polymorphism associated with increased signaling and

susceptibility to atopy asthma and hyper IgE syndrome

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004896	cytokine receptor activity	--	--
GO:0004913	interleukin-4 receptor activity	TAS	2307934
GO:0005057	receptor signaling protein activity	TAS	2307934
GO:0005515	protein binding	IPI	10219247
GO:0043560	insulin receptor substrate binding	RCA	19641626

IL4R for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for IL4R:

Upregulation of Wnt/beta-caten

12 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Il4ra):

cellular	digestive/alimentary	endocrine/exocrine gland	growth/size	hematopoietic system
homeostasis/metabolism	immune system	integument	liver/biliary system	mortality/aging
nervous system	respiratory system

IL4R for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for IL4R: Il4ra^tm1Sz Il4ra^tm1Fbb

inGenious Targeting Laboratory - Custom generated mouse model solutions for IL4R

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for IL4R

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IL4R
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate IL4R:
		hsa-miR-4311 hsa-miR-3194-5p hsa-miR-645 hsa-miR-4297
		SwitchGear 3'UTR luciferase reporter plasmid: IL4R 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 2): IL4R (NM_000418)
		Sino Biological Human cDNA Clone for IL4R
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL4R

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for IL4R About (see all 20)

See pathways by source

SuperPath

Contained pathways About

PEDF Induced Signaling

	PGC1Alpha Pathway	0.51			Glucocorticoid Receptor Signaling	0.43
	STAT3 Pathway	0.47			Cytokine-cytokine receptor interaction	0.43

TGF-Beta Pathway

	TGF-Beta Pathway	0.60			JAK-STAT Pathway	0.57
	MAPK Family Pathway	0.60			JNK Pathway	0.51

Akt Signaling

	Akt Signaling	0.60			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

ErbB4 Pathway

PI3K Signaling in B-Lymphocyte

0.35

IL-4 Pathway

0.34

Common Cytokine Receptor Gamma-Chain Family Signaling Pathways

IL-4 Signaling Pathways

0.84

Pathways by source See SuperPaths
Show all pathways

1 EMD Millipore Pathway for IL4R

Immune response IL-4 signaling pathway

4 R&D Systems Pathways for IL4R

	IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types
	IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
	IL-4 Signaling Pathways
	IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types

5/16 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for IL4R (see all 16)

	THC Differentiation Pathway
	STAT3 Pathway
	IL-4 Pathway
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C

1 GeneGo (Thomson Reuters) Pathway for IL4R

Immune response IL-4 signaling pathway

3 BioSystems Pathways for IL4R

	IL-4 signaling Pathway
	IL4-mediated signaling events
	Inflammatory Response Pathway

5 Kegg Pathways (Kegg details for IL4R):

	Cytokine-cytokine receptor interaction
	PI3K-Akt signaling pathway
	Jak-STAT signaling pathway
	Hematopoietic cell lineage
	Inflammatory bowel disease (IBD)

IL4R for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for IL4R

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/43 Interacting proteins for IL4R (P24394^{1, 2, 3} ENSP00000170630⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 43)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IL4	P05112¹^,²^,³, ENSP00000231449⁴	EBI-367009,EBI-367025 MINT-24865 I2D: score=6 STRING: ENSP00000231449
PTPN6	P29350²^,³, ENSP00000391592⁴	MINT-8033059 MINT-8037208 I2D: score=5 STRING: ENSP00000391592
INPP5D	Q92835²^,³, ENSP00000352575⁴	MINT-8033048 I2D: score=4 STRING: ENSP00000352575
ARIH2	O95376²^,³	MINT-63292 I2D: score=5
STAT6	P42226²^,³, ENSP00000300134⁴	MINT-8035396 MINT-8038145 MINT-8037219 MINT-8038160 I2D: score=4 STRING: ENSP00000300134

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002532	production of molecular mediator involved in inflammatory response	IEA	--
GO:0006955	immune response	TAS	2307934
GO:0007165	signal transduction	TAS	2307934
GO:0030728	ovulation	IEA	--
GO:0035771	interleukin-4-mediated signaling pathway	TAS	2307934

IL4R for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

IL4R for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IL4R (IL4RA)

10/23 Novoseek inferred chemical compound relationships for IL4R gene (see all 23) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
il 10	68.4	15	16842617 (2), 16600026 (1), 15566952 (1), 15021309 (1) (see all 13)
exotoxin-a	57.1	1	8077061 (1)
tyrosine	48	35	7518439 (4), 7538655 (2), 9712048 (2), 15699483 (1) (see all 22)
tarc	47	5	16387595 (2), 15679716 (2), 18691306 (1)
gp 130	37.2	5	10622477 (1), 9890661 (1), 10414448 (1)
allergens	29	1	15005726 (1)
rantes	22.7	2	19355961 (1), 15021309 (1)
cycloheximide	21.1	4	11067899 (1), 7703528 (1)
phosphotyrosine	19.4	2	11390477 (1), 10652211 (1)
steroid	5.39	1	9847438 (1)

1 PharmGKB related drug/compound annotation for IL4R gene About this table

Drug/compound	PharmGKB Annotation
pitrakinra	CA

Search CenterWatch for drugs/clinical trials and news about IL4R / IL4RA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for IL4R gene (5 alternative transcripts):

NM_000418.3 NM_001257406.1 NM_001257407.1 NM_001257997.1 NM_001008699.1

Unigene Cluster for IL4R:

Interleukin 4 receptor

Hs.513457 [show with all ESTs]

Unigene Representative Sequence: NM_001257407

18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000566117 ENST00000395762(uc002don.3) ENST00000562142 ENST00000561742

ENST00000563926 ENST00000543915(uc002dop.4 uc010bxy.3 uc002doo.3)

ENST00000568746 ENST00000566318 ENST00000563002 ENST00000561946 ENST00000563787

ENST00000565696 ENST00000562968 ENST00000565179 ENST00000565352 ENST00000565915

ENST00000563886 ENST00000170630

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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		4 QIAGEN miScript miRNA Assays for microRNAs that regulate IL4R:
		hsa-miR-4311 hsa-miR-3194-5p hsa-miR-645 hsa-miR-4297
		SwitchGear 3'UTR luciferase reporter plasmid: IL4R 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for IL4R
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IL4R

Additional mRNA sequence:

AB102798.1 AK223591.1 AK303255.1 AK314863.1 BC110343.1 BC136365.1 BC151131.1 EF173858.1

X52425.1

16 DOTS entries:

DT.454948 DT.100809157 DT.91848175 DT.95275110 DT.97858843 DT.92431906 DT.100778851 DT.40132408

DT.91823439 DT.92000452 DT.101957484 DT.101977782 DT.120678141 DT.91798533 DT.95363134 DT.120678180

24/231 AceView cDNA sequences (see all 231):

BQ642943 BG059479 AU126041 NM_000418 BQ052998 BQ055050 AW408737 AW238857

BQ064996 BP345278 BQ691765 BM715787 BQ066728 BM792587 CB159273 BM927681

BF832003 AW950285 CR616481 BM992372 CA428924 CN479079 T28032 AW849713

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for IL4R (see all 11) About this scheme

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:			-		-								-		-		-		-								-		-

ECgene alternative splicing isoforms for IL4R

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IL4R expression in normal human tissues (normalized intensities) IL4R embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTGGCCCAGA

About this image

IL4R expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/5 selected tissues (see all 5) fully expand


Skeletal Muscle (Muscoskeletal System) fully expand to see all 20 entries
Mononuclear Myocytes Thoracic Epaxial Myotome

Somite (Muscoskeletal System) fully expand to see all 15 entries
Mononuclear Myocytes Cervical Primary Hypaxial Myotome

Limb (Muscoskeletal System) fully expand to see all 4 entries
Mononuclear Myocytes Hindlimb Dorsal Muscle

Thymus
gland/thymus primordium

Blood (Cardiovascular System)
gland/thymus primordium

See IL4R Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IL4R

SOURCE GeneReport for Unigene cluster: Hs.513457

UniProtKB/Swiss-Prot: IL4RA_HUMAN, P24394

Tissue specificity: Isoform 1 and isoform 2 are highly expressed in activated T-cells

SABiosciences Expression via Pathway-Focused PCR Arrays including IL4R (see all 8):

Interferons & Receptors in human mouse rat

Th1/Th2 Response in human mouse rat

T Helper Cell Differentiation in human mouse rat

T-cell & B-cell Activation in human mouse rat

JAK / STAT Signaling Pathway in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for IL4R gene from 2/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Il4ra^{1 , 5}	interleukin 4 receptor, alpha^{1, 5}	66.96(n)¹ 53.71(a)¹		7 (68.94 cM)⁵ 16190¹ NM_001008700.3¹ NP_001008700.1¹ 125552282⁵
chicken (Gallus gallus)	Aves	IL4R⁶	Uncharacterized protein	31(a)	1 ↔ 1	14(7276529-7291664)

ENSEMBL Gene Tree for IL4R (if available)
TreeFam Gene Tree for IL4R (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: IL4RA_HUMAN, P24394

Polymorphism: Allelic variants in IL4RA are associated with a susceptibility to atopy, an immunological condition that

can lead to clinical symptoms such as allergic rhinitis, sinusitis, asthma and eczema

Polymorphism: Allelic variants in IL4RA are associated with cedar pollen sensitization. Individuals develop Japanese

cedar pollinosis with increased exposure to cedar pollen. Japanese cedar pollinosis is a type I allergic disease with

ocular and nasal symptoms that develop paroxysmally on contact with Japanese cedar pollen. These symptoms, which occur

seasonally each year, are typical features of allergic rhinitis, such as sneezing, excessive nasal secretion, nasal

congestion, and conjunctival itching

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1805015^1,2,4	C,F,H	pathogenic¹	28268141(+)	`GCAACT/CCCCTG`	8	/P /S	mis¹		43		MN NS EA NA WA CSA EU	10014
rs1805010^1,2,4	C,F,A,H	other¹	28250173(+)	`CGTGTA/C/G/T TCCCT`	7	I V	mis¹ ut5¹ ese³		36		NS NA MN EA WA CSA EU	9643
rs1801275^1,2,4	C,F,H	other¹	28268361(+)	`CTATCA/GGGAGT`	8	Q R	mis¹ ese³		42		MN NS EA NA WA CSA EU	10580
rs8060798^1,2	C,F,A	--	25413188(+)	`CCCCCC/ACCAAA`	4	--	us2k¹		2		NA CSA	4
rs8060938^1,2	C,F,A	--	25413189(+)	`CCCCAC/ACAAAC`	4	--	us2k¹		2		NA	4
rs3052702^1,2	C	--	25418078(+)	`GAGGG-/AAATGAG`	4	--	int¹		0	--	--	--	--
rs11390919^1,2	C	--	25423908(+)	`GAGGT-/GGGCTG`	4	--	int¹		0	--	--	--	--
rs200369149^1,2		--	25455837(+)	`TTTTT-/CTTTTT`	4	--	int¹		0	--	--	--	--
rs3116572^1,2	C,F	--	25455838(+)	`TTTTTC/TTTTTT`	4	--	int¹ trp³		5		NA WA CSA	9
rs138640688^1,2	C	--	25459358(+)	`ATCTA-/GTGGTGTT`	4	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for IL4R (27324989 - 27376099 bp)

Structural Variations
Database of Genomic Variants (DGV) 7 variations for IL4R: About this table

Variant ID	Type	Subtype	PubMed ID
esv2664327	CNV	Deletion	23128226
nsv905685	CNV	Loss	21882294
esv24900	CNV	Loss	19812545
nsv905687	CNV	Loss	21882294
nsv833179	CNV	Loss	17160897
nsv905686	CNV	Loss	21882294
nsv516053	CNV	Gain+Loss	19592680

Human Gene Mutation Database (HGMD): IL4R

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

IL4R for disorders           About GeneDecksing

OMIM gene information: 147781
OMIM disorders: 147050  609423
20/128 diseases for IL4R (see all 128):    About MalaCards

atopy eczema allergic rhinitis aids, slow progression to

rhinitis intervertebral disc disease interleukin-7 receptor alpha deficiency asthma

stevens-johnson syndrome idiopathic interstitial pneumonia nephrotic syndrome hyper ige syndrome

pemphigus foliaceus pemphigus subacute sclerosing panencephalitis sickle cell anemia

allergic contact dermatitis contact dermatitis food allergy dermatitis

1 disease from the University of Copenhagen DISEASES database for IL4R:

Asthma

Congresses - knowledge worth sharing:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

10/80 Novoseek inferred disease relationships for IL4R gene (see all 80) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
atopy	79.3	61	9864378 (4), 15007345 (4), 10600010 (3), 10390422 (3) (see all 35)
asthma allergic	69.1	18	14641543 (3), 15479272 (3), 12940513 (2), 12358844 (2) (see all 10)
asthma	64.9	112	17303794 (5), 18849614 (5), 17823973 (4), 20002627 (4) (see all 52)
severe combined immunodeficiency, x-linked	62.7	3	8998263 (1), 7865464 (1), 10098325 (1)
dermatitis atopic	52.4	12	10809862 (2), 10550754 (1), 8902859 (1), 15194153 (1) (see all 9)
allergy	47.2	18	16867043 (2), 18849614 (2), 17901851 (2), 16155848 (1) (see all 12)
nephrotic syndrome minimal change	44.5	1	10334974 (1)
genetic susceptibility	38.2	3	14641543 (1), 11164908 (1), 10390422 (1)
rhinitis allergic seasonal	37.3	1	15005726 (1)
carcinoma renal cell	36.1	12	8423237 (2), 7703528 (2), 8891114 (1), 12171893 (1) (see all 10)

Genetic Association Database (GAD): IL4R
Human Genome Epidemiology (HuGE) Navigator: IL4R (269 documents)

Export disorders for IL4R gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for IL4R gene, integrated from 9 sources (see all 738):
(articles sorted by number of sources associating them with IL4R)

Utopia: connect your pdf to the dynamic
world of online information

Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. (PubMed id 10677312)^{1, 2, 4, 9} Ober C.... Cox N.J. (2000)
Interleukin 4 receptor alpha chain polymorphism Gln551Arg is associated with adult atopic dermatitis in Japan. (PubMed id 10809862)^{1, 2, 4, 9} Oiso N.... Ishii M. (2000)
The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction. (PubMed id 10233717)^{1, 2, 4, 9} Kruse S....Deichmann K.A. (1999)
No association between atopy/asthma and the Ile50Val polymorphism of IL-4 receptor. (PubMed id 10390422)^{1, 2, 4, 9} Noguchi E.... Hamaguchi H. (1999)
The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor. (PubMed id 9392697)^{1, 2, 4, 9} Hershey G.K.K....Chatila T.A. (1997)
Ile50Val variant of IL4R alpha upregulates IgE synthesis and associates with atopic asthma. (PubMed id 9620765)^{1, 2, 4} Mitsuyasu H.... Hopkin J.M. (1998)
Diisocyanate asthma and gene-environment interactions with IL4RA, CD-14, and IL-13 genes. (PubMed id 17201240)^{1, 4, 9} Bernstein D.I....Hershey G.K. (2006)
Interaction between variants in the interleukin-4 receptor alpha and interleukin-9 receptor genes in childhood wheezing: evidence from a birth cohort study. (PubMed id 17083349)^{1, 4, 9} Melen E....Kere J. (2006)
Haplotypes of the interleukin-4 receptor alpha chain gene associate with susceptibility to and severity of atopic asthma. (PubMed id 15479272)^{1, 4, 9} Hytonen A.M....Padyukov L. (2004)
Analysis of interleukin-4 receptor alpha chain variants in multiple sclerosis. (PubMed id 11164908)^{1, 4, 9} Hackstein H....Bein G. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3566	HGNC: 6015	AceView: IL4R	Ensembl:ENSG00000077238	euGenes: HUgn3566
ECgene: IL4R	Kegg: 3566	H-InvDB: IL4R

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for IL4R	Pharmacogenomics, SNPs, Pathways
SeattleSNPs	http://pga.gs.washington.edu/data/il4r/
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=IL4R

Intellectual Property for IL4R gene
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Patent Information for IL4R gene:
Search GeneIP for patents involving IL4R

GeneCards and IP:
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