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    IL4R interleukin 4 receptor [ Homo sapiens (human) ]

    Gene ID: 3566, updated on 3-Apr-2024

    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; AllianceGenome:HGNC:6015
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IL4R in Genome Data Viewer
    Location:
    16p12.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (27313756..27364778)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (27592211..27643525)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (27325295..27376099)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:27228002-27228794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27233716-27234401 Neighboring gene lysine demethylase 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:27247181-27247705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10614 Neighboring gene Sharpr-MPRA regulatory region 5139 Neighboring gene NSE1 homolog, SMC5-SMC6 complex component Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27270255-27270754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7299 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:27282975-27283523 Neighboring gene NSMCE1 divergent transcript Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:27322486-27323685 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:27324508-27325238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7303 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:27335787-27336641 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:27338789-27339453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27374892-27375392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27375393-27375893 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:27376379-27377578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10617 Neighboring gene MPRA-validated peak2541 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10618 Neighboring gene Sharpr-MPRA regulatory region 7417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27413572-27414114 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr16:27416784-27417372 and GRCh37_chr16:27417373-27417961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10622 Neighboring gene MPRA-validated peak2542 silencer Neighboring gene interleukin 21 receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27449769-27450714 Neighboring gene uncharacterized LOC124903668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27460829-27461706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10631 Neighboring gene IL21R antisense RNA 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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables interleukin-4 receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T-helper 1 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T-helper 2 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to protozoan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in immunoglobulin mediated immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interleukin-4-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of T-helper 1 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of T-helper 2 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of chemokine production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of immunoglobulin production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of macrophage activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in production of molecular mediator involved in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of 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
    interleukin 13 receptor
    interleukin-4 receptor alpha chain

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B4E076, B9EKU8, H3BSY5, P24394, Q96P01, Q9H181, Q9H182, Q9H183, Q9H184, Q9H185, Q9H186, Q9H187, Q9H188
      UniProtKB/TrEMBL
      B9EGC0
      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
      B4E076, B9EKU8, H3BSY5, P24394, Q96P01, Q9H181, Q9H182, Q9H183, Q9H184, Q9H185, Q9H186, Q9H187, Q9H188
      UniProtKB/TrEMBL
      B9EGC0
      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/TrEMBL
      B9EGC0
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      27313756..27364778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545826.3XP_011544128.1  interleukin-4 receptor subunit alpha isoform X1

      See identical proteins and their annotated locations for XP_011544128.1

      UniProtKB/Swiss-Prot
      B4E076, B9EKU8, H3BSY5, P24394, Q96P01, Q9H181, Q9H182, Q9H183, Q9H184, Q9H185, Q9H186, Q9H187, Q9H188
      UniProtKB/TrEMBL
      B9EGC0
      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_011545825.2XP_011544127.1  interleukin-4 receptor subunit alpha isoform X1

      See identical proteins and their annotated locations for XP_011544127.1

      UniProtKB/Swiss-Prot
      B4E076, B9EKU8, H3BSY5, P24394, Q96P01, Q9H181, Q9H182, Q9H183, Q9H184, Q9H185, Q9H186, Q9H187, Q9H188
      UniProtKB/TrEMBL
      B9EGC0
      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. XM_017023211.2XP_016878700.1  interleukin-4 receptor subunit alpha isoform X7

    4. XM_047434067.1XP_047290023.1  interleukin-4 receptor subunit alpha isoform X1

      UniProtKB/Swiss-Prot
      B4E076, B9EKU8, H3BSY5, P24394, Q96P01, Q9H181, Q9H182, Q9H183, Q9H184, Q9H185, Q9H186, Q9H187, Q9H188
    5. XM_011545827.3XP_011544129.1  interleukin-4 receptor subunit alpha isoform X1

      See identical proteins and their annotated locations for XP_011544129.1

      UniProtKB/Swiss-Prot
      B4E076, B9EKU8, H3BSY5, P24394, Q96P01, Q9H181, Q9H182, Q9H183, Q9H184, Q9H185, Q9H186, Q9H187, Q9H188
      UniProtKB/TrEMBL
      B9EGC0
      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
    6. XM_047434066.1XP_047290022.1  interleukin-4 receptor subunit alpha isoform X2

    7. XM_047434068.1XP_047290024.1  interleukin-4 receptor subunit alpha isoform X4

    8. XM_011545833.2XP_011544135.1  interleukin-4 receptor subunit alpha isoform X4

      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_011545834.3XP_011544136.1  interleukin-4 receptor subunit alpha isoform X5

      Conserved Domains (1) summary
      PHA03247
      Location:293561
      PHA03247; large tegument protein UL36; Provisional
    10. XM_011545828.3XP_011544130.1  interleukin-4 receptor subunit alpha isoform X3

      UniProtKB/TrEMBL
      B9EGC0
      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
    11. XM_005255308.2XP_005255365.1  interleukin-4 receptor subunit alpha isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      27592211..27643525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380241.1XP_054236216.1  interleukin-4 receptor subunit alpha isoform X8

    2. XM_054380249.1XP_054236224.1  interleukin-4 receptor subunit alpha isoform X9

    3. XM_054380243.1XP_054236218.1  interleukin-4 receptor subunit alpha isoform X1

      UniProtKB/Swiss-Prot
      B4E076, B9EKU8, H3BSY5, P24394, Q96P01, Q9H181, Q9H182, Q9H183, Q9H184, Q9H185, Q9H186, Q9H187, Q9H188
    4. XM_054380242.1XP_054236217.1  interleukin-4 receptor subunit alpha isoform X1

      UniProtKB/Swiss-Prot
      B4E076, B9EKU8, H3BSY5, P24394, Q96P01, Q9H181, Q9H182, Q9H183, Q9H184, Q9H185, Q9H186, Q9H187, Q9H188
    5. XM_054380246.1XP_054236221.1  interleukin-4 receptor subunit alpha isoform X4

    6. XM_054380245.1XP_054236220.1  interleukin-4 receptor subunit alpha isoform X4

    7. XM_054380247.1XP_054236222.1  interleukin-4 receptor subunit alpha isoform X5

    8. XM_054380244.1XP_054236219.1  interleukin-4 receptor subunit alpha isoform X3

    9. XM_054380248.1XP_054236223.1  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.