IL2RA

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.

Type 1 diabetes mellitus 10

T1D10

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.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

• Membrane
• Single-pass type I membrane protein

CD25, Interleukin-2 receptor subunit alpha, IL-2 receptor subunit alpha, IL-2-RA, IL-2R subunit alpha, IL2-RA, TAC antigen, p55, IL2RA

• entrezGene:3559
• entrezGene:443435
• entrezGene:920
• omim:147730
• swissprot:P01589
• swissprot:P01730

Proteins

Immunology & Infectious Disease

• Immuno-oncology
• Neuroscience

30819Da