IL2RA interleukin 2 receptor subunit alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL2RAprovided by HGNC
Official Full Name: interleukin 2 receptor subunit alphaprovided by HGNC
Primary source: HGNC:HGNC:6008
See related: Ensembl:ENSG00000134460 MIM:147730; AllianceGenome:HGNC:6008
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: p55; CD25; IL2R; IMD41; TCGFR; IDDM10
Summary: The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis.
Expression: Biased expression in lymph node (RPKM 8.0), appendix (RPKM 7.2) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p15.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (6010689..6062367, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (6011401..6062560, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (6052652..6104330, complement)

Chromosome 10 - NC_000010.11 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
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?

Interleukin gene polymorphisms and alopecia areata: A systematic review and meta-analysis.
Title: Interleukin gene polymorphisms and alopecia areata: A systematic review and meta-analysis.
The soluble IL-2 receptor alpha/CD25 as a modulator of IL-2 function.
Title: The soluble IL-2 receptor α/CD25 as a modulator of IL-2 function.
Evaluation of gene-gene interaction between the interleukin (IL)-2 and IL-2RA gene polymorphisms in schizophrenia patients in the Turkish Population.
Title: Evaluation of gene-gene interaction between the interleukin (IL)-2 and IL-2RA gene polymorphisms in schizophrenia patients in the Turkish Population.
DNA methylation differences within INS, PTPN22 and IL2RA promoters in lymphocyte subsets in children with type 1 diabetes and controls.
Title: DNA methylation differences within INS, PTPN22 and IL2RA promoters in lymphocyte subsets in children with type 1 diabetes and controls.
CD4+CD25+CD127[lo]FOXP3+ cell in food allergy: Does it predict anaphylaxis?
Title: CD4+CD25+CD127(lo)FOXP3+ cell in food allergy: Does it predict anaphylaxis?
A great disturbance in the force: IL-2 receptor defects disrupt immune homeostasis.
Title: A great disturbance in the force: IL-2 receptor defects disrupt immune homeostasis.
An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population.
Title: An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population.
KIAA0101 and IL2RA Were Identified as Core Genes in Hormone-Resistant Nephropathy.
Title: KIAA0101 and IL2RA Were Identified as Core Genes in Hormone-Resistant Nephropathy.
Spatial analysis and CD25-expression identify regulatory T cells as predictors of a poor prognosis in colorectal cancer.
Title: Spatial analysis and CD25-expression identify regulatory T cells as predictors of a poor prognosis in colorectal cancer.
Prognostic value of preoperative soluble interleukin 2 receptor alpha as a novel immune biomarker in epithelial ovarian cancer.
Title: Prognostic value of preoperative soluble interleukin 2 receptor α as a novel immune biomarker in epithelial ovarian cancer.

Submit: New GeneRIF Correction See all GeneRIFs (436)

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 due to CD25 deficiency MedGen: C1853392 OMIM: 606367 GeneReviews: Not available	Compare labs
Type 1 diabetes mellitus 10 MedGen: C1866040 OMIM: 601942 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 bronchodilator response in asthmatics. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 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 identifies 11 risk variants associated with the asthma with hay fever phenotype. 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 and meta-analysis find that over 40 loci affect risk of type 1 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Risk alleles for multiple sclerosis identified by a genomewide study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. 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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Replication interactions

Interaction	Pubs
HIV-1 infected clinical samples have plasma extracellular vesicles that contain elevated CCL1 (I309), IGFBP1, CCL5 (RANTES), GMCSF, ANG, ADIPOQ (ACRP30), CSF3 (GCSF), CXCL1 (GRO), ICAM1, IL2RA, IL6R, TNFRSF1A, and TIMP1 when compared to healthy donors	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of interleukin 2 receptor, alpha (IL2RA, CD25) in human B cells	PubMed
	env	CD4+ T cells infected with CCR5-tropic HIV-1 have significantly higher levels of activation-marker expression (e.g. CD25, CD71 and HLA-DR) than CD4+ T lymphocytes infected with CXCR4-tropic HIV-1	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
Envelope transmembrane glycoprotein gp41	env	An HIV-1 gp41 peptide (amino acid residues 581-597) inhibits both protein kinase C (PKC)-dependent interleukin 2 (IL 2) production and the [Ca2+]i influx-dependent but PKC-independent induction of IL 2 receptor expression	PubMed
Nef	nef	Cells expressing HIV-1 Nef from long-term non-progressors and progressive infection patients induce higher surface levels of CD69 and CD25 than cells producing HIV-2 or SIV Nef	PubMed
	nef	HIV-1 Nef expression in the CD4+ T-cell line MT2 and in PHA-activated PBMCs downregulates the expression of IL-2R from the cell surface	PubMed
	nef	HIV-1 Nef-pulsed mDCs downregulate HLA-DR expression and upregulate CD25 and CCR7 expression in NK cells	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	Four mutations (C27S, K51T, R55L, and G79A) on HIV-1 Tat result in the loss of the deleterious effects of Tat on the expression of MHC I, IL-2, and CD25 genes compared with wild-type Tat in Jurkat cells	PubMed
	tat	HIV-1 Tat upregulates IL-2Ralpha (CD25) in PBMCs and purified T cells through integrins alpha-3 and alpha-5	PubMed
	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

RH27239 (e-PCR)
- UniSTS:88607

SHGC-85106 (e-PCR)
- UniSTS:103482

PMC85880P1 (e-PCR)
- UniSTS:273498

STS-X03133 (e-PCR)
- UniSTS:8062

GDB:193868 (e-PCR)
- UniSTS:155776

IL2RA_767 (e-PCR)
- UniSTS:277378

IL2RA_V107 (e-PCR)
- UniSTS:277378

STS-X01057 (e-PCR)
- UniSTS:82054

SHGC-148218 (e-PCR)
- UniSTS:176265

D22S296 (e-PCR)
- UniSTS:147641

NoName (e-PCR)
- UniSTS:489660

RH11124 (e-PCR)
- UniSTS:19195

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables interleukin-2 binding	IBA Inferred from Biological aspect of Ancestor 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in activated T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in activation-induced cell death of T cells	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response to antigenic stimulus	IEA Inferred from Electronic Annotation more info
involved_in interleukin-2-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of activated T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of CD4-positive, alpha-beta T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of T cell homeostatic proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of T cell tolerance induction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
part_of interleukin-2 receptor complex	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IC Inferred by Curator 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 alpha

Names: IL-2 receptor subunit alpha; IL-2R subunit alpha; TAC antigen; interleukin 2 receptor, alpha

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_007403.1 RefSeqGene

Range

4940..56616

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_73

mRNA and Protein(s)

NM_000417.3 → NP_000408.1 interleukin-2 receptor subunit alpha isoform 1 precursor

See identical proteins and their annotated locations for NP_000408.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL137186, AL157395, X01057

Consensus CDS

CCDS7076.1

UniProtKB/Swiss-Prot

P01589, Q5W007

UniProtKB/TrEMBL

B2R9M9, Q53FH4

Related

ENSP00000369293.3, ENST00000379959.8

Conserved Domains (1) summary

cd00033
Location:125 → 184

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
NM_001308242.2 → NP_001295171.1 interleukin-2 receptor subunit alpha isoform 2 precursor

See identical proteins and their annotated locations for NP_001295171.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AL137186, CD701954, K03122, X01057

Consensus CDS

CCDS76281.1

UniProtKB/TrEMBL

Q5W005

Related

ENSP00000369287.1, ENST00000379954.5

Conserved Domains (1) summary

pfam00084
Location:26 → 78

Sushi; Sushi domain (SCR repeat)
NM_001308243.2 → NP_001295172.1 interleukin-2 receptor subunit alpha isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two in-frame exons in the central coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AL137186, CD701954, CR996090, X01057

Consensus CDS

CCDS91210.1

UniProtKB/TrEMBL

H0Y5Z0

Related

ENSP00000402024.2, ENST00000447847.2

Conserved Domains (1) summary

pfam00084
Location:26 → 78

Sushi; Sushi domain (SCR repeat)