TNFRSF18

Chr 1

TNF receptor superfamily member 18

Also known as: AITR, CD357, ENERGEN, GITR, GITR-D

NCBI Gene: 8784 ENSG00000186891 UniProt: Q9Y5U5

The protein is a TNF receptor superfamily member that regulates T-cell activation, immune tolerance through regulatory T cells, and T-cell receptor-mediated cell death via NF-kappa-B signaling. This gene is extremely intolerant to loss-of-function mutations (pLI near 1.0), indicating that haploinsufficiency likely causes severe disease, though specific clinical phenotypes associated with TNFRSF18 mutations have not been well-established in humans. Given its critical role in immune regulation, mutations would be expected to cause primary immunodeficiency or autoimmune disorders.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the TNF-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.88

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)