Gene
IL2RA
interleukin 2 receptor subunit alpha
- HGNC 6008↗(opens in a new tab)
- Ensembl gene ENSG00000134460↗(opens in a new tab)
- NCBI Gene 3559↗(opens in a new tab)
Summary
- Cytogenetic location
- 10p15.1
- Coordinates
- Chromosome 10: 6,010,689–6,062,367 (GRCh38)
- Exons
- 8 exons across 51.7 kb
- Protein
- 272 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- CD25
- Previous symbols
- IL2R, IDDM10
- MANE Select transcript
- ENST00000379959.8NM_000417.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Diabetes Mellitus
A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems
IPEX Syndrome and Other Tregopathies
- CD25 deficiency (IL2RA)Autosomal recessive
An IPEX-like condition with autoimmunity, enteropathy and infections caused by changes in both copies of IL2RA.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Immunosuppression and stem cell transplantation are used.
Neonatal Diabetes Mellitus
Diabetes diagnosed in the first months of life, either permanent or transient, caused by single-gene defects in insulin production or secretion.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Most people with KCNJ11 or ABCC8 neonatal diabetes can switch from insulin injections to sulfonylurea tablets, often with better glucose control.
Broader groupings
Other Inborn Errors of Immunity
- Immunodeficiency Disease
One of 170 genes linked to it
Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How IL2RA is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.2 kb of the gene's 51.7 kb; 819 of those bases code for the protein.
How a genome test reads IL2RA
10
positions in IL2RA where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 51.7 kb of IL2RA, introns included, not only the 3.2 kb of exons.
Genes linked to the same conditions
- ABCC8ATP binding cassette subfamily C member 8Shares 2 conditions
- BSCL2BSCL2 lipid droplet biogenesis associated, seipinShares 2 conditions
- EIF2B1eukaryotic translation initiation factor 2B subunit alphaShares 2 conditions
- GATA4GATA binding protein 4Shares 2 conditions
- GATA6GATA binding protein 6Shares 2 conditions
- GCKglucokinaseShares 2 conditions
- GLIS3GLIS family zinc finger 3Shares 2 conditions
- HNF1BHNF1 homeobox BShares 2 conditions
- INSinsulinShares 2 conditions
- KCNJ11potassium inwardly rectifying channel subfamily J member 11Shares 2 conditions
- MNX1motor neuron and pancreas homeobox 1Shares 2 conditions
- NEUROD1neuronal differentiation 1Shares 2 conditions
Traits linked to IL2RA
The Human Phenotype Ontology lists these as features of the rare conditions IL2RA can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). IL2RA gene: interleukin 2 receptor subunit alpha. Retrieved 17 October 2026, from https://dantelabs.com/genes/il2ra
Dante Labs. IL2RA gene: interleukin 2 receptor subunit alpha [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/il2ra
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