IL4R interleukin 4 receptor [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 16p12.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (27313756..27364778)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (27592211..27643525)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (27325295..27376099)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of IL4RA and IL-8 polymorphism in predicting susceptibility to tuberculosis.
Title: Association of IL4RA and IL-8 polymorphism in predicting susceptibility to tuberculosis.
Type II Interleukin-4 Receptor Activation in Basal Breast Cancer Cells Promotes Tumor Progression via Metabolic and Epigenetic Modulation.
Title: Type II Interleukin-4 Receptor Activation in Basal Breast Cancer Cells Promotes Tumor Progression via Metabolic and Epigenetic Modulation.
Genetic variants in IL4RA, IL6, and IL12B genes and susceptibility to hepatitis B and C virus infections among Iraqi patients.
Title: Genetic variants in IL4RA, IL6, and IL12B genes and susceptibility to hepatitis B and C virus infections among Iraqi patients.
Global IL4Ralpha blockade exacerbates heart failure after an ischemic event in mice and humans.
Title: Global IL4Rα blockade exacerbates heart failure after an ischemic event in mice and humans.
Th2 cytokine signaling through IL-4Ralpha increases eotaxin-3 secretion and tension in human esophageal smooth muscle.
Title: Th2 cytokine signaling through IL-4Rα increases eotaxin-3 secretion and tension in human esophageal smooth muscle.
Association of IL4RA polymorphism in predicting susceptibility toward chronic obstructive pulmonary disease.
Title: Association of IL4RA polymorphism in predicting susceptibility toward chronic obstructive pulmonary disease.
Association of the IL-4R Q576R Polymorphism with Pediatric Asthma: a meta-analysis.
Title: Association of the IL-4R Q576R Polymorphism with Pediatric Asthma: a meta-analysis.
Prognosis value and positive association of Rab1A/IL4Ralpha aberrant expression in gastric cancer.
Title: Prognosis value and positive association of Rab1A/IL4Rα aberrant expression in gastric cancer.
IgG memory B cells expressing IL4R and FCER2 are associated with atopic diseases.
Title: IgG memory B cells expressing IL4R and FCER2 are associated with atopic diseases.
Epithelial cell-expressed type II IL-4 receptor mediates eosinophilic esophagitis.
Title: Epithelial cell-expressed type II IL-4 receptor mediates eosinophilic esophagitis.

Submit: New GeneRIF Correction See all GeneRIFs (226)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70830 (e-PCR)
- UniSTS:33816

D16S3224 (e-PCR)
- UniSTS:372

SHGC-30149 (e-PCR)
- UniSTS:62848

PMC55319P2 (e-PCR)
- UniSTS:273320

GDB:335754 (e-PCR)
- UniSTS:156602

IL4R_416 (e-PCR)
- UniSTS:280784

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

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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)

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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

NG_012086.1 RefSeqGene

Range

5045..55849

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000418.4 → NP_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:123 → 219

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:32 → 121

IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
NM_001257406.2 → NP_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:123 → 219

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:32 → 121

IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
NM_001257407.2 → NP_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:108 → 204

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:17 → 106

IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
NM_001257997.2 → NP_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:274 → 542

PHA03247; large tegument protein UL36; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

27313756..27364778

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545826.3 → XP_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:123 → 219

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:32 → 121

IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
XM_011545825.2 → XP_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:123 → 219

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:32 → 121

IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
XM_017023211.2 → XP_016878700.1 interleukin-4 receptor subunit alpha isoform X7
XM_047434067.1 → XP_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
XM_011545827.3 → XP_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:123 → 219

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:32 → 121

IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
XM_047434066.1 → XP_047290022.1 interleukin-4 receptor subunit alpha isoform X2
XM_047434068.1 → XP_047290024.1 interleukin-4 receptor subunit alpha isoform X4
XM_011545833.2 → XP_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:335 → 603

PHA03247; large tegument protein UL36; Provisional
XM_011545834.3 → XP_011544136.1 interleukin-4 receptor subunit alpha isoform X5

Conserved Domains (1) summary

PHA03247
Location:293 → 561

PHA03247; large tegument protein UL36; Provisional
XM_011545828.3 → XP_011544130.1 interleukin-4 receptor subunit alpha isoform X3

UniProtKB/TrEMBL

B9EGC0

Conserved Domains (2) summary

cd00063
Location:34 → 130

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:1 → 32

IL4Ra_N; Interleukin-4 receptor alpha chain, N-terminal
XM_005255308.2 → XP_005255365.1 interleukin-4 receptor subunit alpha isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

27592211..27643525

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054380241.1 → XP_054236216.1 interleukin-4 receptor subunit alpha isoform X8
XM_054380249.1 → XP_054236224.1 interleukin-4 receptor subunit alpha isoform X9
XM_054380243.1 → XP_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
XM_054380242.1 → XP_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
XM_054380246.1 → XP_054236221.1 interleukin-4 receptor subunit alpha isoform X4
XM_054380245.1 → XP_054236220.1 interleukin-4 receptor subunit alpha isoform X4
XM_054380247.1 → XP_054236222.1 interleukin-4 receptor subunit alpha isoform X5
XM_054380244.1 → XP_054236219.1 interleukin-4 receptor subunit alpha isoform X3
XM_054380248.1 → XP_054236223.1 interleukin-4 receptor subunit alpha isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.