IL2RB Genr

The IL2RB gene (IL2RB stands for "Interleukin 2 Receptor Subunit Beta") is a protein coding gene located on chromosome 22q12.3. The IL2RB gene encodes the beta subunit of the interleukin 2 receptor. This beta subunit is involved in receptor-mediated endocytosis and transmits the mitogenic signals of IL2. Probably related to IL15RA, which is involved in the stimulation of neutrophil phagocytosis by IL15. An important paralog of this gene is CSF2RB.

The interleukin 2 receptor, which is involved in T cell-mediated immune responses, exists in three variants that differ in their ability to bind interleukin 2:

• The low affinity variant: It is a monomer of the alpha subunit and is not involved in signal transduction.
• The medium affinity variant: It consists of an alpha/beta subunit heterodimer.
• The high affinity variant: It consists of an alpha/beta/gamma subunit heterotrimer.

Both the intermediate and high affinity variants of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals of interleukin 2.

The receptor protein encoded by this gene represents the beta subunit and is a type I membrane protein. The use of alternative promoters results in multiple transcript variants encoding the same protein. The protein is mainly expressed in the hematopoietic system. The use of an alternative promoter in an upstream long terminal repeat (LTR) results in placenta-specific expression for some variants.

Diseases associated with IL2RB include immunodeficiency 63 with lymphoproliferation and autoimmunity and ichthyosis.

1. Fernandez IZ et al (2019) A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation. J Exp Med 216: 1255-1267.
2. Suzuki H et al (1995) Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor beta. Science 268: 1472-1476.
3. Zhang Z et al (2019) Human interleukin-2 receptor beta mutations associated with defects in immunity and peripheral tolerance. J Exp Med 216: 1311-1327.