TNFRSF25

Chr 1

TNF receptor superfamily member 25

Also known as: APO-3, DDR3, DR3, LARD, TNFRSF12, TR3, TRAMP, WSL-1

NCBI Gene: 8718 ENSG00000215788 UniProt: Q93038

This protein is a TNF-receptor superfamily member that mediates NF-kappa B activation, induces apoptosis, and regulates lymphocyte homeostasis by serving as a receptor for TNFSF12/TWEAK. Mutations in TNFRSF25 cause autosomal dominant immunodeficiency with susceptibility to viral infections and autoimmune manifestations. The gene is expressed preferentially in lymphoid tissues and plays a critical role in removing self-reactive T cells in the thymus.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed preferentially in the tissues enriched in lymphocytes, and it may play a role in regulating lymphocyte homeostasis. This receptor has been shown to stimulate NF-kappa B activity and regulate cell apoptosis. The signal transduction of this receptor is mediated by various death domain containing adaptor proteins. Knockout studies in mice suggested the role of this gene in the removal of self-reactive T cells in the thymus. Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported, most of which are potentially secreted molecules. The alternative splicing of this gene in B and T cells encounters a programmed change upon T-cell activation, which predominantly produces full-length, membrane bound isoforms, and is thought to be involved in controlling lymphocyte proliferation induced by T-cell activation. [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)

—

P/LP submissions

—

P/LP missense

0.60

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429