TNFSF18

Chr 1

TNF superfamily member 18

Also known as: AITRL, GITRL, TL6, TNLG2A, hGITRL

NCBI Gene: 8995 ENSG00000120337 UniProt: Q9UNG2

The protein encoded by TNFSF18 is a cytokine that binds to the TNFRSF18 receptor and regulates T-cell activation, proliferation, and survival, while also promoting leukocyte adhesion to endothelial cells. This gene is highly tolerant to loss-of-function variants based on population genetics data, and no Mendelian diseases have been definitively associated with TNFSF18 mutations to date. The gene's role in immune cell regulation suggests that if pathogenic variants were identified, they would likely affect immunological function.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.63

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)