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    IL4R interleukin 4 receptor [ Homo sapiens (human) ]

    Gene ID: 3566, updated on 24-Nov-2020

    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
    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
    109.20201120 current GRCh38.p13 (GCF_000001405.39) 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    GeneReviews: Not available
    A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
    GeneReviews: Not available
    Human immunodeficiency virus type 1, susceptibility to
    MedGen: C1836230 OMIM: 609423 GeneReviews: Not available
    not available
    Ige responsiveness, atopic
    MedGen: C1840253 OMIM: 147050 GeneReviews: Not available
    not available

    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 PubChem

    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 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 population 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
    centriolar satellite IDA
    Inferred from Direct Assay
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    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
      5045..55849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000418.4NP_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, ENST00000395762.7
      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_001257406.2NP_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
      Consensus CDS
      CCDS10629.1
      UniProtKB/Swiss-Prot
      P24394
      UniProtKB/TrEMBL
      B2RBY1
      Related
      ENSP00000441667.2, ENST00000543915.6
      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_001257407.2NP_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, 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_001257997.2NP_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
      Conserved Domains (1) summary
      PHA03247
      Location:274542
      PHA03247; large tegument protein UL36; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 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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