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    IL4R interleukin 4 receptor [ Homo sapiens (human) ]

    Gene ID: 3566, updated on 24-Aug-2015
    Official Symbol
    IL4Rprovided by HGNC
    Official Full Name
    interleukin 4 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6015
    See related
    Ensembl:ENSG00000077238; HPRD:00990; 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]
    Orthologs
    See IL4R in Epigenomics, MapViewer
    Location:
    16p12.1-p11.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 (K)-specific demethylase 8 Neighboring gene NSE1 homolog, SMC5-SMC6 complex component Neighboring gene uncharacterized LOC400512 Neighboring gene interleukin 21 receptor Neighboring gene IL21R antisense RNA 1 Neighboring gene general transcription factor IIIC, polypeptide 1, alpha 220kDa

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Congenital human immunodeficiency virus
    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

    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

    • 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 biosystemInterleukin-4 belongs to the IL-2 family of cytokines, which includes IL-2, IL-7, IL-9, IL-15 and IL-21. It signals through 2 different receptor complexes; Receptor complex 1 comprises of IL-4 recept...
    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-mediated signaling events
    • 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...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    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 
    receptor signaling protein activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    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 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
     
    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 
    intracellular TAS
    Traceable Author Statement
    more info
    PubMed 
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    interleukin-4 receptor subunit alpha
    Names
    IL-4 receptor subunit alpha
    IL4R nirs variant 1
    interleukin-4 receptor alpha chain

    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, OTTHUMP00000122506, ENST00000395762, OTTHUMT00000214104
      Conserved Domains (2) summary
      pfam09238
      Location:27121
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
      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 ...
    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/TrEMBL
      B2RBY1
      UniProtKB/Swiss-Prot
      P24394
      Related
      ENSP00000441667, OTTHUMP00000255739, ENST00000543915, OTTHUMT00000435129
      Conserved Domains (2) summary
      pfam09238
      Location:27121
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
      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 ...
    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, ENST00000170630
      Conserved Domains (2) summary
      pfam09238
      Location:12106
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
      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 ...
    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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011545825.1XP_011544127.1  

      See identical proteins and their annotated locations for XP_011544127.1

      UniProtKB/Swiss-Prot
      P24394
      Conserved Domains (2) summary
      pfam09238
      Location:27121
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
      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 ...
    2. XM_011545831.1XP_011544133.1  

      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_011545826.1XP_011544128.1  

      See identical proteins and their annotated locations for XP_011544128.1

      UniProtKB/Swiss-Prot
      P24394
      Conserved Domains (2) summary
      pfam09238
      Location:27121
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
      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 ...
    4. XM_011545829.1XP_011544131.1  

      See identical proteins and their annotated locations for XP_011544131.1

      Conserved Domains (1) summary
      PHA03247
      Location:335603
      PHA03247; large tegument protein UL36; Provisional
    5. XM_011545832.1XP_011544134.1  

      See identical proteins and their annotated locations for XP_011544134.1

      Conserved Domains (1) summary
      PHA03247
      Location:335603
      PHA03247; large tegument protein UL36; Provisional
    6. XM_011545830.1XP_011544132.1  

      See identical proteins and their annotated locations for XP_011544132.1

      Conserved Domains (1) summary
      PHA03247
      Location:335603
      PHA03247; large tegument protein UL36; Provisional
    7. XM_011545827.1XP_011544129.1  

      See identical proteins and their annotated locations for XP_011544129.1

      UniProtKB/Swiss-Prot
      P24394
      Conserved Domains (2) summary
      pfam09238
      Location:27121
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
      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 ...
    8. XM_011545833.1XP_011544135.1  

      See identical proteins and their annotated locations for XP_011544135.1

      Conserved Domains (1) summary
      PHA03247
      Location:335603
      PHA03247; large tegument protein UL36; Provisional
    9. XM_011545828.1XP_011544130.1  

      Conserved Domains (2) summary
      pfam09238
      Location:132
      IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
      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 ...
    10. XM_011545834.1XP_011544136.1  

      Conserved Domains (1) summary
      PHA03247
      Location:293561
      PHA03247; large tegument protein UL36; Provisional
    11. XM_005255308.2XP_005255365.1  

    12. XM_006721043.1XP_006721106.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      28336783..28387655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.