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IL4R interleukin 4 receptor [ Homo sapiens (human) ]

Gene ID: 3566, updated on 26-May-2016
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
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 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 subunit 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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 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 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 
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/Swiss-Prot
    P24394
    UniProtKB/TrEMBL
    B2RBY1
    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 details...

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.