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IL4R interleukin 4 receptor [ Homo sapiens (human) ]

Gene ID: 3566, updated on 12-Oct-2019

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
109.20190905 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
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
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 Annotation Release 109.20190905

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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