IL2RA

Chr 10AR

interleukin 2 receptor subunit alpha

Also known as: CD25, IDDM10, IL2R, IMD41, TCGFR, p55

NCBI Gene: 3559 ENSG00000134460 UniProt: P01589 OMIM: 147730

The interleukin-2 receptor alpha chain controls immune tolerance by regulating regulatory T cell activity, which suppresses autoreactive T cell activation and expansion. Autosomal recessive mutations cause immunodeficiency with lymphoproliferation and autoimmunity, and confer susceptibility to insulin-dependent diabetes mellitus. This gene is moderately constrained against loss-of-function variation (LOEUF 0.658).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}MIM #601942

Immunodeficiency 41 with lymphoproliferation and autoimmunityMIM #606367

UniProtType 1 diabetes mellitus 10

Clinical highlights

Gene-disease validity (ClinGen)

immunodeficiency due to CD25 deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.66

LOEUF

Multiple*

Mechanism· predicted