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IL4R interleukin 4 receptor [ Homo sapiens (human) ]

Gene ID: 3566, updated on 22-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
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Try the new Transcript table

Genomic context

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.