IL2RA gene

interleukin 2 receptor subunit alpha

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Interleukin 2 receptor, alpha, deficiency of
  • Diabetes mellitus, insulin-dependent, 10

From UniProt:

Immunodeficiency 41 with lymphoproliferation and autoimmunity (IMD41): A disorder of immune dysregulation characterized by recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. [MIM:606367]

Diabetes mellitus, insulin-dependent, 10 (IDDM10): A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [MIM:601942]

Cytogenetic Location: 10p15.1, which is the short (p) arm of chromosome 10 at position 15.1

Molecular Location: base pairs 6,010,689 to 6,062,367 on chromosome 10 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 10p15.1, which is the short (p) arm of chromosome 10 at position 15.1
  • CD25
  • IDDM10
  • IL2R
  • IMD41
  • p55