IL2RA & CD3

IL2RA encodes the alpha chain of the interleukin-2 receptor, a part of the immune system's response to inflammation. This receptor plays a role in T-cell proliferation, activation, and differentiation. IL2RA is essential for the immune system's ability to regulate itself, especially in preventing autoimmune diseases. Mutations in IL2RA can lead to immunodeficiencies, such as Severe Combined Immunodeficiency (SCID), and autoimmune diseases like type 1 diabetes. The gene is located on chromosome 10, and its expression is largely restricted to T-cells, where it modulates the immune response to interleukin-2 (IL-2).

The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined.