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Aliases for IL4R Gene

Aliases for IL4R Gene

  • Interleukin 4 Receptor 2 3 5
  • IL-4 Receptor Subunit Alpha 3 4
  • Interleukin 13 Receptor 2 3
  • IL-4RA 3 4
  • IL4RA 3 4
  • Interleukin-4 Receptor Subunit Alpha 3
  • Interleukin-4 Receptor Alpha Chain 3
  • IL4R Nirs Variant 1 3
  • IL-4R Subunit Alpha 4
  • CD124 Antigen 4
  • IL-4R-Alpha 4
  • CD124 3

External Ids for IL4R Gene

Previous GeneCards Identifiers for IL4R Gene

  • GC16P026753
  • GC16P027424
  • GC16P027252
  • GC16P027317
  • GC16P027291
  • GC16P027248
  • GC16P025413

Summaries for IL4R Gene

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 Hiv-1. Among its related pathways are Hematopoietic cell lineage and p70S6K Signaling. GO annotations related to this gene include signal transducer activity, downstream of receptor and interleukin-4 receptor activity.

UniProtKB/Swiss-Prot for IL4R Gene

  • 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.

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

Gene Wiki entry for IL4R Gene

Additional gene information for IL4R Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL4R Gene

Genomics for IL4R Gene

Regulatory Elements for IL4R Gene

Enhancers for IL4R Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H027312 2 FANTOM5 Ensembl ENCODE dbSUPER 22.7 +9.1 9105 19 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 IL4R FLJ21408 NSMCE1 GTF3C1 IL21R KIAA0556 GSG1L ENSG00000259940 KDM8 ENSG00000274092
GH16H027286 1.7 FANTOM5 Ensembl ENCODE dbSUPER 24.5 -26.6 -26568 2 ZNF146 FOXA2 JUN ZFP64 ZNF140 ZNF266 ZMYM3 ZNF697 TEAD3 ZNF766 IL4R ENSG00000259940 KIAA0556 NSMCE1
GH16H027252 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.5 -59.7 -59695 2 HDGF PKNOX1 JUN BACH1 BATF RELA FOSL1 FOSL2 FOS ATF7 IL4R KIAA0556 FLJ21408 ENSG00000259940
GH16H027267 1.6 FANTOM5 ENCODE dbSUPER 11.6 -44.8 -44766 3 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 LINC02129 LOC102723536 ENSG00000228480 IL4R KDM8 ENSG00000259940 NSMCE1
GH16H027446 1.4 Ensembl ENCODE dbSUPER 11.7 +135.4 135358 5 HDGF PKNOX1 FOXA2 TBL1XR1 RB1 ZSCAN4 BMI1 BATF TCF12 SCRT2 IL21R-AS1 IL4R IL21R
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IL4R on UCSC Golden Path with GeneCards custom track

Promoters for IL4R Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084774 532 1601 HDGF FOXA2 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF207 FOS SP5

Genomic Location for IL4R Gene

Chromosome:
16
Start:
27,313,668 bp from pter
End:
27,364,778 bp from pter
Size:
51,111 bases
Orientation:
Plus strand

Genomic View for IL4R Gene

Genes around IL4R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL4R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL4R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL4R Gene

Proteins for IL4R Gene

  • Protein details for IL4R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24394-IL4RA_HUMAN
    Recommended name:
    Interleukin-4 receptor subunit alpha
    Protein Accession:
    P24394
    Secondary Accessions:
    • B4E076
    • B9EKU8
    • H3BSY5
    • Q96P01
    • Q9H181
    • Q9H182
    • Q9H183
    • Q9H184
    • Q9H185
    • Q9H186
    • Q9H187
    • Q9H188

    Protein attributes for IL4R Gene

    Size:
    825 amino acids
    Molecular mass:
    89658 Da
    Quaternary structure:
    • 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 (PubMed:7775445, PubMed:8804422). Interacts with PIK3C3 (By similarity). Interacts with the SH2-containing phosphatases, PTPN6/SHIP1, PTPN11/SHIP2 and INPP5D/SHIP (PubMed:11714803). Interacts with JAK1 through a Box 1-containing region; inhibited by SOCS5. Interacts with SOCS5; inhibits IL4 signaling (By similarity). Interacts with JAK3 (PubMed:7538655). Interacts with CLM1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for IL4R Gene

    Alternative splice isoforms for IL4R Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL4R Gene

Post-translational modifications for IL4R Gene

  • 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.
  • The soluble form (sIL4R/IL4BP) can also be produced by proteolytic cleavage at the cell surface (shedding) by a metalloproteinase.
  • Glycosylation at isoforms=2, 353, isoforms=2, 398, posLast=128128, isoforms=2, 3134, isoforms=2, 3176, and isoforms=2, 3209
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for IL4R

Protein Products

Assay Products

  • Cloud-Clone Corp. Assay Kits for IL4R

No data available for DME Specific Peptides for IL4R Gene

Domains & Families for IL4R Gene

Gene Families for IL4R Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P24394

UniProtKB/Swiss-Prot:

IL4RA_HUMAN :
  • The extracellular domain represents the IL4 binding protein (IL4BP).
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.
Domain:
  • The extracellular domain represents the IL4 binding protein (IL4BP).
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • The box 1 motif is required for JAK interaction and/or activation.
  • 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.
Family:
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.
genes like me logo Genes that share domains with IL4R: view

Function for IL4R Gene

Molecular function for IL4R Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
Soluble IL4R (sIL4R) inhibits IL4-mediated cell proliferation and IL5 up-regulation by T-cells.

Phenotypes From GWAS Catalog for IL4R Gene

Gene Ontology (GO) - Molecular Function for IL4R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IEA --
GO:0004913 interleukin-4 receptor activity TAS 2307934
GO:0005057 signal transducer activity, downstream of receptor TAS 2307934
GO:0005515 protein binding IPI 8266078
genes like me logo Genes that share ontologies with IL4R: view
genes like me logo Genes that share phenotypes with IL4R: view

Animal Models for IL4R Gene

MGI Knock Outs for IL4R:

Animal Model Products

  • Taconic Biosciences Mouse Models for IL4R

CRISPR Products

miRNA for IL4R Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IL4R Gene

Localization for IL4R Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL4R Gene

Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL4R gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2
peroxisome 1
nucleus 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IL4R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2307934
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with IL4R: view

Pathways & Interactions for IL4R Gene

genes like me logo Genes that share pathways with IL4R: view

SIGNOR curated interactions for IL4R Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for IL4R Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0016064 immunoglobulin mediated immune response IEA --
genes like me logo Genes that share ontologies with IL4R: view

Drugs & Compounds for IL4R Gene

(23) Drugs for IL4R Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dupilumab Approved, Investigational Pharma Target, antagonist 0
AER001 Investigational Pharma Target 0
Cintredekin Besudotox Investigational Pharma 0
Hepatitis vaccines Pharma 0
pitrakinra Pharma 0

(11) Additional Compounds for IL4R Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL4R: view

Transcripts for IL4R Gene

Unigene Clusters for IL4R Gene

Interleukin 4 receptor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for IL4R Gene

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: - -

Relevant External Links for IL4R Gene

GeneLoc Exon Structure for
IL4R
ECgene alternative splicing isoforms for
IL4R

Expression for IL4R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IL4R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IL4R Gene

This gene is overexpressed in Whole Blood (x10.5).

Protein differential expression in normal tissues from HIPED for IL4R Gene

This gene is overexpressed in Blymphocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IL4R Gene



Protein tissue co-expression partners for IL4R Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IL4R Gene:

IL4R

SOURCE GeneReport for Unigene cluster for IL4R Gene:

Hs.513457

mRNA Expression by UniProt/SwissProt for IL4R Gene:

P24394-IL4RA_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are highly expressed in activated T-cells.

Evidence on tissue expression from TISSUES for IL4R Gene

  • Blood(4.5)
  • Lymph node(2.6)
  • Bone marrow(2.3)
  • Intestine(2.3)
  • Lung(2.3)
  • Spleen(2.3)
genes like me logo Genes that share expression patterns with IL4R: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IL4R Gene

Orthologs for IL4R Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL4R Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IL4R 33 34
  • 98.83 (n)
dog
(Canis familiaris)
Mammalia IL4R 33 34
  • 78.09 (n)
cow
(Bos Taurus)
Mammalia IL4R 33 34
  • 75.69 (n)
rat
(Rattus norvegicus)
Mammalia Il4r 33
  • 67.58 (n)
mouse
(Mus musculus)
Mammalia Il4ra 33 16 34
  • 67.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IL4R 34
  • 34 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IL4R 34
  • 31 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL4RA 34
  • 20 (a)
OneToOne
Species where no ortholog for IL4R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IL4R Gene

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

Paralogs for IL4R Gene

No data available for Paralogs for IL4R Gene

Variants for IL4R Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IL4R Gene

IL4RA_HUMAN-P24394
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.
IL4RA_HUMAN-P24394
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.

Sequence variations from dbSNP and Humsavar for IL4R Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1805010 Pathogenic 27,344,882(+) CGTGT(A/C/G/T)TCCCT reference, synonymous-codon, missense, utr-variant-5-prime
rs1801275 other 27,363,079(+) CTATC(A/G)GGAGT downstream-variant-500B, reference, missense
rs1805015 other 27,362,859(+) GCAAC(C/T)CCCTG downstream-variant-500B, reference, missense
rs1000044741 -- 27,354,016(+) CTTCT(G/T)GAAAG intron-variant, upstream-variant-2KB
rs1000058651 -- 27,356,886(+) AAAGG(C/T)TGAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IL4R Gene

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

Variation tolerance for IL4R Gene

Residual Variation Intolerance Score: 77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.76; 96.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IL4R Gene

Human Gene Mutation Database (HGMD)
IL4R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL4R

Disorders for IL4R Gene

MalaCards: The human disease database

(14) MalaCards diseases for IL4R Gene - From: HGMD, OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
atopy
  • atopic hypersensitivity
hiv-1
  • aids, slow progression to
allergic rhinitis
  • atopic rhinitis
sinusitis
beta-lactam allergy
- elite association - COSMIC cancer census association via MalaCards
Search IL4R in MalaCards View complete list of genes associated with diseases

Relevant External Links for IL4R

Genetic Association Database (GAD)
IL4R
Human Genome Epidemiology (HuGE) Navigator
IL4R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IL4R
genes like me logo Genes that share disorders with IL4R: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IL4R Gene

Publications for IL4R Gene

  1. The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor. (PMID: 9392697) Hershey GK … Chatila TA (The New England journal of medicine 1997) 3 4 22 45 60
  2. Analysis of polymorphisms in olive pollen allergy: IL13, IL4RA, IL5 and ADRB2 genes. (PMID: 18849614) Llanes E … Cárdaba B (International archives of allergy and immunology 2009) 3 22 45 60
  3. Genetic variants in immunoregulatory genes and risk for childhood lymphomas. (PMID: 19508433) Andrie E … Petridou ET (European journal of haematology 2009) 3 22 45 60
  4. Favorable impact of the interleukin-4 receptor allelic variant I75 on the survival of diffuse large B-cell lymphoma patients demonstrated in a large prospective clinical trial. (PMID: 19515749) Schoof N … Kube D (Annals of oncology : official journal of the European Society for Medical Oncology 2009) 3 22 45 60
  5. Interleukin promoter polymorphisms and prognosis in colorectal cancer. (PMID: 18448485) Wilkening S … Försti A (Carcinogenesis 2008) 3 22 45 60

Products for IL4R Gene

Sources for IL4R Gene

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