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    IL4R interleukin 4 receptor [ Homo sapiens (human) ]

    Gene ID: 3566, updated on 12-Aug-2018

    Summary

    Official Symbol
    IL4Rprovided by HGNC
    Official Full Name
    interleukin 4 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6015
    See related
    Ensembl:ENSG00000077238 MIM:147781; Vega:OTTHUMG00000097015
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CD124; IL4RA; IL-4RA
    Summary
    This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 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]
    Expression
    Broad expression in lymph node (RPKM 30.2), appendix (RPKM 23.9) and 22 other tissues See more
    Orthologs

    Genomic context

    See IL4R in Genome Data Viewer
    Location:
    16p12.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (27313668..27364778)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (27325161..27376099)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene lysine demethylase 8 Neighboring gene NSE1 homolog, SMC5-SMC6 complex component Neighboring gene NSMCE1 divergent transcript Neighboring gene interleukin 21 receptor Neighboring gene IL21R antisense RNA 1 Neighboring gene general transcription factor IIIC subunit 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Human immunodeficiency virus type 1, susceptibility to
    MedGen: C1836230 OMIM: 609423 GeneReviews: Not available
    Compare labs
    Ige responsiveness, atopic
    MedGen: C1840253 OMIM: 147050 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    NHGRI GWA Catalog
    A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates IL-4R in the Raji B-lymphoblastoid cell line, suggesting the possibility that the immunosuppressive effects of HIV-1 are mediated at least in part through IL-4 receptors PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • IL-4 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-4 Signaling Pathway, organism-specific biosystemIL-4 is a glycoprotein which is composed of 129 amino acids and has a molecular weight of 20kDa. IL-4 and IL-13 are produced by CD4+ cells and exhibit significant functional overlap. Both these cytok...
    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-mediated signaling events
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Inflammatory Response Pathway, organism-specific biosystem (from WikiPathways)
      Inflammatory Response Pathway, organism-specific biosystem
      Inflammatory Response Pathway
    • Inflammatory bowel disease (IBD), organism-specific biosystem (from KEGG)
      Inflammatory bowel disease (IBD), organism-specific biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • Inflammatory bowel disease (IBD), conserved biosystem (from KEGG)
      Inflammatory bowel disease (IBD), conserved biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • Interleukin-4 and 13 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-4 and 13 signaling, organism-specific biosystemInterleukin-4 (IL4) is a principal regulatory cytokine during the immune response, crucially important in allergy and asthma (Nelms et al. 1999). When resting T cells are antigen-activated and expand...
    • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
      Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
      Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Th1 and Th2 cell differentiation, organism-specific biosystem (from KEGG)
      Th1 and Th2 cell differentiation, organism-specific biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
    • Th1 and Th2 cell differentiation, conserved biosystem (from KEGG)
      Th1 and Th2 cell differentiation, conserved biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
    • Th17 cell differentiation, organism-specific biosystem (from KEGG)
      Th17 cell differentiation, organism-specific biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    • Th17 cell differentiation, conserved biosystem (from KEGG)
      Th17 cell differentiation, conserved biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    interleukin-4 receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    defense response to protozoan IEA
    Inferred from Electronic Annotation
    more info
     
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    immunoglobulin mediated immune response IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-4-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of T-helper 1 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    ovulation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of T-helper 2 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of chemokine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of immunoglobulin production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of macrophage activation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    production of molecular mediator involved in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    response to odorant IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    interleukin-4 receptor subunit alpha
    Names
    IL-4 receptor subunit alpha
    IL4R nirs variant 1
    interleukin 13 receptor
    interleukin-4 receptor alpha chain

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012086.1 RefSeqGene

      Range
      4980..55849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000418.3NP_000409.1  interleukin-4 receptor subunit alpha isoform a precursor

      See identical proteins and their annotated locations for NP_000409.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC110343, DA492909, X52425
      Consensus CDS
      CCDS10629.1
      UniProtKB/Swiss-Prot
      P24394
      Related
      ENSP00000379111.2, OTTHUMP00000122506, ENST00000395762.6, OTTHUMT00000214104
      Conserved Domains (2) summary
      cd00063
      Location:123219
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam09238
      Location:32121
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
    2. NM_001257406.1NP_001244335.1  interleukin-4 receptor subunit alpha isoform a precursor

      See identical proteins and their annotated locations for NP_001244335.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode the same isoform (a).
      Source sequence(s)
      AC106739, AK314863, BC110343, DA492909
      Consensus CDS
      CCDS10629.1
      UniProtKB/Swiss-Prot
      P24394
      UniProtKB/TrEMBL
      B2RBY1
      Related
      ENSP00000441667.2, OTTHUMP00000255739, ENST00000543915.6, OTTHUMT00000435129
      Conserved Domains (2) summary
      cd00063
      Location:123219
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam09238
      Location:32121
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
    3. NM_001257407.1NP_001244336.1  interleukin-4 receptor subunit alpha isoform c

      See identical proteins and their annotated locations for NP_001244336.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK303255, BC110343, DA492909, X52425
      Consensus CDS
      CCDS58441.1
      UniProtKB/Swiss-Prot
      P24394
      Related
      ENSP00000170630.3, ENST00000170630.6
      Conserved Domains (2) summary
      cd00063
      Location:108204
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam09238
      Location:17106
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
    4. NM_001257997.1NP_001244926.1  interleukin-4 receptor subunit alpha isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, uses an alternate splice site in the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC106739, BC110343, DA492909
      Conserved Domains (1) summary
      PHA03247
      Location:274542
      PHA03247; large tegument protein UL36; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

      Range
      27313668..27364778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545825.1XP_011544127.1  interleukin-4 receptor subunit alpha isoform X1

      See identical proteins and their annotated locations for XP_011544127.1

      UniProtKB/Swiss-Prot
      P24394
      Conserved Domains (2) summary
      cd00063
      Location:123219
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam09238
      Location:32121
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
    2. XM_011545831.1XP_011544133.1  interleukin-4 receptor subunit alpha isoform X3

      See identical proteins and their annotated locations for XP_011544133.1

      Conserved Domains (1) summary
      PHA03247
      Location:335603
      PHA03247; large tegument protein UL36; Provisional
    3. XM_017023211.1XP_016878700.1  interleukin-4 receptor subunit alpha isoform X7

    4. XM_011545826.2XP_011544128.1  interleukin-4 receptor subunit alpha isoform X1

      See identical proteins and their annotated locations for XP_011544128.1

      UniProtKB/Swiss-Prot
      P24394
      Conserved Domains (2) summary
      cd00063
      Location:123219
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam09238
      Location:32121
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
    5. XM_011545829.1XP_011544131.1  interleukin-4 receptor subunit alpha isoform X3

      See identical proteins and their annotated locations for XP_011544131.1

      Conserved Domains (1) summary
      PHA03247
      Location:335603
      PHA03247; large tegument protein UL36; Provisional
    6. XM_011545832.1XP_011544134.1  interleukin-4 receptor subunit alpha isoform X3

      See identical proteins and their annotated locations for XP_011544134.1

      Conserved Domains (1) summary
      PHA03247
      Location:335603
      PHA03247; large tegument protein UL36; Provisional
    7. XM_011545830.2XP_011544132.1  interleukin-4 receptor subunit alpha isoform X3

      See identical proteins and their annotated locations for XP_011544132.1

      Conserved Domains (1) summary
      PHA03247
      Location:335603
      PHA03247; large tegument protein UL36; Provisional
    8. XM_011545827.2XP_011544129.1  interleukin-4 receptor subunit alpha isoform X1

      See identical proteins and their annotated locations for XP_011544129.1

      UniProtKB/Swiss-Prot
      P24394
      Conserved Domains (2) summary
      cd00063
      Location:123219
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam09238
      Location:32121
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
    9. XM_011545833.2XP_011544135.1  interleukin-4 receptor subunit alpha isoform X3

      See identical proteins and their annotated locations for XP_011544135.1

      Conserved Domains (1) summary
      PHA03247
      Location:335603
      PHA03247; large tegument protein UL36; Provisional
    10. XM_011545834.2XP_011544136.1  interleukin-4 receptor subunit alpha isoform X4

      Conserved Domains (1) summary
      PHA03247
      Location:293561
      PHA03247; large tegument protein UL36; Provisional
    11. XM_011545828.2XP_011544130.1  interleukin-4 receptor subunit alpha isoform X2

      Conserved Domains (2) summary
      cd00063
      Location:34130
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam09238
      Location:132
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
    12. XM_005255308.2XP_005255365.1  interleukin-4 receptor subunit alpha isoform X5

    13. XM_006721043.1XP_006721106.1  interleukin-4 receptor subunit alpha isoform X6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001008699.1: Suppressed sequence

      Description
      NM_001008699.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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