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Aliases for IL4R Gene

Aliases for IL4R Gene

  • Interleukin 4 Receptor 2 3
  • IL4RA 3 4 6
  • IL-4 Receptor Subunit Alpha 3 4
  • IL-4RA 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

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 PI3K-Akt signaling pathway and Akt Signaling. GO annotations related to this gene include receptor signaling protein activity 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

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

Genomics for IL4R Gene

Genomic Location for IL4R Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IL4R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL4R Gene

Regulatory Elements 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. 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).

    Three dimensional structures from OCA and Proteopedia for IL4R Gene

    Alternative splice isoforms for IL4R Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL4R Gene

Proteomics data for IL4R Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn53, Asn98, Asn128, Asn134, Asn176, and Asn209

No data available for DME Specific Peptides for IL4R Gene

Domains for IL4R Gene

Gene Families for IL4R Gene

HGNC:
  • CD :CD molecules
  • IL :Interleukins and interleukin receptors
IUPHAR :

UniProtKB/Swiss-Prot:

IL4RA_HUMAN
Domain:
  • The extracellular domain represents the IL4 binding protein (IL4BP):
    • P24394
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding:
    • P24394
  • The box 1 motif is required for JAK interaction and/or activation:
    • P24394
  • 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:
    • P24394
  • Contains 1 fibronectin type-III domain.:
    • P24394
Family:
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.:
    • P24394
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.

Gene Ontology (GO) - Molecular Function for IL4R Gene

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
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:

miRNA for IL4R Gene

miRTarBase miRNAs that target IL4R

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for IL4R Gene COMPARTMENTS Subcellular localization image for IL4R gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for IL4R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005887 integral component of plasma membrane TAS 2307934
GO:0016021 integral component of membrane --
GO:0043235 receptor complex IDA 23382219
genes like me logo Genes that share ontologies with IL4R: view

Pathways for IL4R Gene

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

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:0006955 immune response TAS 2307934
GO:0007165 signal transduction TAS 2307934
GO:0019221 cytokine-mediated signaling pathway --
GO:0030728 ovulation IEA --
genes like me logo Genes that share ontologies with IL4R: view

Compounds for IL4R Gene

(23) Novoseek inferred chemical compound relationships for IL4R Gene

Compound -log(P) Hits PubMed IDs
il 10 68.4 14
exotoxin-a 57.1 1
tyrosine 48 27
tarc 47 5
gp 130 37.2 3

(1) PharmGKB related drug/compound annotations for IL4R Gene

Drug/compound Annotation
pitrakinra CA
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:

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 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 (10.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for IL4R Gene

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

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 36
  • 98.83 (n)
  • 98.42 (a)
IL4R 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IL4R 36
  • 75.69 (n)
  • 65.59 (a)
IL4R 37
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IL4R 36
  • 78.09 (n)
  • 65.74 (a)
IL4R 37
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Il4ra 36
  • 67.23 (n)
  • 54.12 (a)
Il4ra 16
Il4ra 37
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IL4R 37
  • 31 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IL4R 37
  • 34 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Il4r 36
  • 67.58 (n)
  • 53.25 (a)
chicken
(Gallus gallus)
Aves IL4RA 37
  • 20 (a)
OneToOne
Species with no ortholog for IL4R:
  • 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

P24394-IL4RA_HUMAN
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

Sequence variations from dbSNP and Humsavar for IL4R Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs8674 -- 27,364,568(+) AGCCA(C/T)CCTGT utr-variant-3-prime
rs8832 -- 27,364,466(+) TTGCT(A/G)TGACT utr-variant-3-prime
rs1029489 -- 27,364,896(-) CCAGA(C/T)GGCAA downstream-variant-500B
rs1049631 -- 27,364,221(+) CCCAC(A/G)TGGAG utr-variant-3-prime
rs1075623 -- 27,319,616(-) TAAAA(C/T)GATTG intron-variant

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

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

Relevant External Links for IL4R Gene

HapMap Linkage Disequilibrium report
IL4R
Human Gene Mutation Database (HGMD)
IL4R

Disorders for IL4R Gene

(2) OMIM Diseases for IL4R Gene (147781)

(1) University of Copenhagen DISEASES for IL4R Gene

(80) Novoseek inferred disease relationships for IL4R Gene

Disease -log(P) Hits PubMed IDs
atopy 79.3 54
asthma allergic 69.1 16
asthma 64.9 92
severe combined immunodeficiency, x-linked 62.7 3
dermatitis atopic 52.4 10

Relevant External Links for IL4R

Genetic Association Database (GAD)
IL4R
Human Genome Epidemiology (HuGE) Navigator
IL4R
genes like me logo Genes that share disorders with IL4R: view

No data available for UniProtKB/Swiss-Prot 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 G.K.K. … Chatila T.A. (N. Engl. J. Med. 1997) 3 4 23 49
  2. The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction. (PMID: 10233717) Kruse S. … Deichmann K.A. (Immunology 1999) 3 4 23 49
  3. No association between atopy/asthma and the Ile50Val polymorphism of IL-4 receptor. (PMID: 10390422) Noguchi E. … Hamaguchi H. (Am. J. Respir. Crit. Care Med. 1999) 3 4 23 49
  4. Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. (PMID: 10677312) Ober C. … Cox N.J. (Am. J. Hum. Genet. 2000) 3 4 23 49
  5. Interleukin 4 receptor alpha chain polymorphism Gln551Arg is associated with adult atopic dermatitis in Japan. (PMID: 10809862) Oiso N. … Ishii M. (Br. J. Dermatol. 2000) 3 4 23 49

Products for IL4R Gene

Sources for IL4R Gene

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