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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
  See related diseases
at  

(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 

    IL4R Protein Expression
    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
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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 IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005887integral to plasma membrane TAS2307934
    GO:0016021integral to membrane ----

    IL4R for ontologies           About GeneDecksing



    IL4R Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of IL4R
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    Assay Products for IL4R: 
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    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, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, 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 IDQualified GO termEvidencePubMed IDs
    GO:0004896cytokine receptor activity ----
    GO:0004913interleukin-4 receptor activity TAS2307934
    GO:0005057receptor signaling protein activity TAS2307934
    GO:0005515protein binding IPI10219247
    GO:0043560insulin receptor substrate binding RCA19641626
         
    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:
         MGI mouse knock-outs for IL4R: Il4ratm1Sz Il4ratm1Fbb

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

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IL4R 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IL4R 

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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 plasmidIL4R 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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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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    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

    SuperPathContained pathways About
    1PEDF Induced Signaling
    PGC1Alpha Pathway0.51
    Glucocorticoid Receptor Signaling0.43
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    2TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51
    3Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    4ErbB4 Pathway
    PI3K Signaling in B-Lymphocyte0.35
    IL-4 Pathway0.34
    5Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
    IL-4 Signaling Pathways0.84

    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 CentralTM 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 (P243941, 2, 3 ENSP000001706304) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL4P051121, 2, 3, ENSP000002314494EBI-367009,EBI-367025 MINT-24865 I2D: score=6 STRING: ENSP00000231449
    PTPN6P293502, 3, ENSP000003915924MINT-8033059 MINT-8037208 I2D: score=5 STRING: ENSP00000391592
    INPP5DQ928352, 3, ENSP000003525754MINT-8033048 I2D: score=4 STRING: ENSP00000352575
    ARIH2O953762, 3MINT-63292 I2D: score=5 
    STAT6P422262, 3, ENSP000003001344MINT-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 IDQualified GO termEvidencePubMed IDs
    GO:0002532production of molecular mediator involved in inflammatory response IEA--
    GO:0006955immune response TAS2307934
    GO:0007165signal transduction TAS2307934
    GO:0030728ovulation IEA--
    GO:0035771interleukin-4-mediated signaling pathway TAS2307934

    IL4R for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, 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
    pitrakinraCA  

    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,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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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    Inhib. RNA
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    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
    IL4R Expression
    About this image


    IL4R expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 20 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Somite (Muscoskeletal System)    fully expand to see all 16 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hindlimb Dorsal Muscle
     
     Uncategorized (Uncategorized)    fully expand to see all 2 entries
             PureStem Progenitor EN7
     
     Thymus (Hematopoietic System)
             Thymus

    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 Il4ra1 , 5 interleukin 4 receptor, alpha1, 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


    10/1319 SNPs in IL4R are shown (see all 1319)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18050151,2,4
    C,F,Hpathogenic128268141(+) GCAACT/CCCCTG 8 /P /S mis143Minor allele frequency- C:0.23MN NS EA NA WA CSA EU 10014
    rs18050101,2,4
    C,F,A,Hother128250173(+) CGTGTA/C/G/
            
    TCCCT
    7 I V mis1 ut51 ese336NS NA MN EA WA CSA EU 9643
    rs18012751,2,4
    C,F,Hother128268361(+) CTATCA/GGGAGT 8 Q R mis1 ese342Minor allele frequency- N:0.00MN NS EA NA WA CSA EU 10580
    rs80607981,2
    C,F,A--25413188(+) CCCCCC/ACCAAA 4 -- us2k12Minor allele frequency- A:0.50NA CSA 4
    rs80609381,2
    C,F,A--25413189(+) CCCCAC/ACAAAC 4 -- us2k12Minor allele frequency- A:0.50NA 4
    rs30527021,2
    C--25418078(+) GAGGG-/AAATGAG 4 -- int10--------
    rs113909191,2
    C--25423908(+) GAGGT-/GGGCTG 4 -- int10--------
    rs2003691491,2
    --25455837(+) TTTTT-/CTTTTT 4 -- int10--------
    rs31165721,2
    C,F--25455838(+) TTTTTC/TTTTTT 4 -- int1 trp35Minor allele frequency- T:0.33NA WA CSA 9
    rs1386406881,2
    C--25459358(+) ATCTA-/GTGGTGTT 4 -- int10--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for IL4R:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2664327CNV Deletion23128226
    nsv905685CNV Loss21882294
    esv24900CNV Loss19812545
    nsv905687CNV Loss21882294
    nsv833179CNV Loss17160897
    nsv905686CNV Loss21882294
    nsv516053CNV Gain+Loss19592680


    Human Gene Mutation Database (HGMD): IL4R
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing IL4R
    DNA2.0 Custom Variant and Variant Library Synthesis for IL4R

    (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
    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

    IL4R for disorders           About GeneDecksing


    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

    1. 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)
    2. 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)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 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)
    About This Section
     ANDOR
    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
    NameDescription
    PharmGKB entry for IL4R Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/il4r/
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=IL4R

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IL4R gene:
    Search GeneIP for patents involving IL4R

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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