IL15RA

Chr 10

interleukin 15 receptor subunit alpha

Also known as: CD215

NCBI Gene: 3601 ENSG00000134470 UniProt: Q13261

The interleukin-15 receptor alpha subunit functions as a high-affinity cytokine receptor that binds interleukin-15 and enhances cell proliferation and survival through activation of anti-apoptotic proteins. Mutations cause severe combined immunodeficiency with autosomal recessive inheritance. This gene shows extremely high constraint against loss-of-function variants (pLI near 1.0), indicating that such mutations are likely to cause severe phenotypes.

ResearchSummary from RefSeq, UniProt

This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.58

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)