IL27

Chr 16

interleukin 27

Also known as: IL-27, IL-27A, IL27A, IL27p28, IL30, p28

NCBI Gene: 246778 ENSG00000197272 UniProt: Q8NEV9

The IL27 protein associates with EBI3 to form the IL-27 cytokine complex, which regulates T-helper cell development, suppresses T-cell proliferation, stimulates cytotoxic T-cell activity, and has diverse effects on innate immune cells including driving clonal expansion of naive CD4+ T-cells and synergizing with IL-12 to trigger interferon-gamma production. Mutations in IL27 cause immunodeficiency with autosomal recessive inheritance, affecting immune system function. This gene shows high constraint against loss-of-function variants, indicating it is essential for normal cellular function.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.51

LOEUF

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Mechanism

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