IL2RB interleukin 2 receptor subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL2RBprovided by HGNC
Official Full Name: interleukin 2 receptor subunit betaprovided by HGNC
Primary source: HGNC:HGNC:6009
See related: Ensembl:ENSG00000100385 MIM:146710; AllianceGenome:HGNC:6009
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: CD122; IMD63; IL15RB; P70-75
Summary: The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. The use of alternative promoters results in multiple transcript variants encoding the same protein. The protein is primarily expressed in the hematopoietic system. The use by some variants of an alternate promoter in an upstream long terminal repeat (LTR) results in placenta-specific expression. [provided by RefSeq, Sep 2016]
Expression: Broad expression in spleen (RPKM 33.2), lymph node (RPKM 19.6) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (37125838..37175118, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (37585773..37635037, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (37521878..37571158, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

IL2RB affects Th1/Th2 and Th17 responses of peripheral blood mononuclear cells from septic patients.
Title: IL2RB affects Th1/Th2 and Th17 responses of peripheral blood mononuclear cells from septic patients.
Upregulated Expression of IL2RB Causes Disorder of Immune Microenvironment in Patients with Kawasaki Disease.
Title: Upregulated Expression of IL2RB Causes Disorder of Immune Microenvironment in Patients with Kawasaki Disease.
Interleukin 2 receptor subunit beta as a novel hub gene plays a potential role in the immune microenvironment of abdominal aortic aneurysms.
Title: Interleukin 2 receptor subunit beta as a novel hub gene plays a potential role in the immune microenvironment of abdominal aortic aneurysms.
Soluble IL-2R Levels at Baseline Predict the Development of Severe Respiratory Failure and Mortality in COVID-19 Patients.
Title: Soluble IL-2R Levels at Baseline Predict the Development of Severe Respiratory Failure and Mortality in COVID-19 Patients.
Liver Injury and Elevated Levels of Interleukins, Interleukin-2 Receptor, and Interleukin-6 Predict the Severity in Patients With COVID-19.
Title: Liver Injury and Elevated Levels of Interleukins, Interleukin-2 Receptor, and Interleukin-6 Predict the Severity in Patients With COVID-19.
Human CD8 T-stem cell memory subsets phenotypic and functional characterization are defined by expression of CD122 or CXCR3.
Title: Human CD8 T-stem cell memory subsets phenotypic and functional characterization are defined by expression of CD122 or CXCR3.
Impact of genetic variants in IL-2RA and IL-2RB on breast cancer risk in Chinese Han women.
Title: Impact of genetic variants in IL-2RA and IL-2RB on breast cancer risk in Chinese Han women.
Downregulation of miR-497-5p Improves Sepsis-Induced Acute Lung Injury by Targeting IL2RB.
Title: Downregulation of miR-497-5p Improves Sepsis-Induced Acute Lung Injury by Targeting IL2RB.
Value of serum soluble interleukin-2 receptor as a diagnostic and predictive biomarker in sarcoidosis.
Title: Value of serum soluble interleukin-2 receptor as a diagnostic and predictive biomarker in sarcoidosis.
In a Chinese Han population, we identified ADRB2 polymorphisms (rs1042711 and rs1560642) that were associated with increased risk of lung cancer, and polymorphisms in IL33 (rs7025417) and IL2RB (rs5756523 and rs2284033) that were associated with decreased disease risk.
Title: Association between ADRB2, IL33, and IL2RB gene polymorphisms and lung cancer risk in a Chinese Han population.

Submit: New GeneRIF Correction See all GeneRIFs (73)

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

Associated conditions

Description	Tests
Immunodeficiency 63 with lymphoproliferation and autoimmunity MedGen: C5193126 OMIM: 618495 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A large-scale, consortium-based genomewide association study of asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. 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
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of interleukin 2 receptor, beta (IL2RB) in human B cells	PubMed
	env	The inhibition of IL-2R expression and proliferation induced by the interaction of CD4 with HIV-1 envelope glycoprotein gp120 is correlated with the inhibition of expression and activation of Janus kinase JAK3	PubMed
	env	HIV-1 gp120 exerts a dose-dependent reduction of IL-2 mRNA expression, IL-2 production, and surface IL-2 receptor expression in CD4+ lymphocytes	PubMed
Pr55(Gag)	gag	MVA-gag induces a significant release of cytokines such as IL-2R, IL-6, IL-8, TNF-alpha, IFN-gamma, MCP-1, MIP-1alpha, MIP-1beta, and RANTES by the infected monocyte-derived dendritic cells in comparison with uninfected cells	PubMed
Tat	tat	HIV-1 Tat downregulates IL-2R in Jurkat and H9 T-cell lines, an effect that may contribute to the immunosuppressive effects of HIV-1 Tat	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

D22S1045 (e-PCR), detects polymorphism
- UniSTS:49680

RH27828 (e-PCR)
- UniSTS:91184

GDB:180405 (e-PCR)
- UniSTS:44093

RH17685 (e-PCR)
- UniSTS:54637

GDB:188757 (e-PCR)
- UniSTS:155580

Il2rb (e-PCR), detects polymorphism
- UniSTS:143559

D22S450 (e-PCR)
- UniSTS:148708

GDB:190926 (e-PCR)
- UniSTS:155634

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables coreceptor activity	IDA Inferred from Direct Assay more info	PubMed
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables interleukin-15 receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables interleukin-2 binding	IBA Inferred from Biological aspect of Ancestor more info
enables interleukin-2 binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables interleukin-2 binding	ISS Inferred from Sequence or Structural Similarity more info
enables interleukin-2 receptor activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to interleukin-2 receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables interleukin-2 receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in immunoglobulin mediated immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in interleukin-15-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interleukin-2-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-2-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interleukin-2-mediated signaling pathway	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phagocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome	TAS Traceable Author Statement more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of interleukin-2 receptor complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: interleukin-2 receptor subunit beta

Names: CD122 antigen; IL-2 receptor subunit beta; IL-2R subunit beta; IL-2RB; high affinity IL-2 receptor beta subunit; high affinity IL-2 receptor subunit beta; interleukin 15 receptor, beta; interleukin 2 receptor, beta; interleukin-15 receptor subunit beta; p75

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.

mRNA and Protein(s)

NM_000878.5 → NP_000869.1 interleukin-2 receptor subunit beta precursor

See identical proteins and their annotated locations for NP_000869.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AA834613, AK312860, AL022314

Consensus CDS

CCDS13942.1

UniProtKB/Swiss-Prot

B2R765, P14784

UniProtKB/TrEMBL

A0A8V8TMD8, A0A8V8TP62

Related

ENSP00000216223.5, ENST00000216223.10

Conserved Domains (2) summary

smart00060
Location:134 → 216

FN3; Fibronectin type 3 domain

cl26386
Location:386 → 531

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
NM_001346222.1 → NP_001333151.1 interleukin-2 receptor subunit beta precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, compared to variant 1. This variant represents use of an upstream long terminal repeat (LTR) promoter and exon sequence, and results in placental-specific expression. Variants 1, 2 and 3 encode the same protein. (PMID: 21865161)

Source sequence(s)

AA834613, AL022314, Z82188

Consensus CDS

CCDS13942.1

UniProtKB/Swiss-Prot

B2R765, P14784

UniProtKB/TrEMBL

A0A8V8TMD8, A0A8V8TP62

Related

ENSP00000403731.2, ENST00000453962.6

Conserved Domains (2) summary

smart00060
Location:134 → 216

FN3; Fibronectin type 3 domain

cl26386
Location:386 → 531

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
NM_001346223.2 → NP_001333152.1 interleukin-2 receptor subunit beta precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, compared to variant 1. This variant represents use of an upstream long terminal repeat (LTR) promoter and exon sequence, and results in placental-specific expression. Variants 1, 2 and 3 encode the same protein. (PMID: 21865161)

Source sequence(s)

AL022314, Z82188

Consensus CDS

CCDS13942.1

UniProtKB/Swiss-Prot

B2R765, P14784

UniProtKB/TrEMBL

A0A8V8TMD8, A0A8V8TP62

Related

ENSP00000402685.2, ENST00000429622.6

Conserved Domains (2) summary

smart00060
Location:134 → 216

FN3; Fibronectin type 3 domain

cl26386
Location:386 → 531

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III