TNFRSF14

Chr 1

TNF receptor superfamily member 14

Also known as: ATAR, CD270, HVEA, HVEM, LIGHTR, TR2

NCBI Gene: 8764 ENSG00000157873 UniProt: Q92956 OMIM: 602746

The encoded protein functions as a receptor for multiple ligands including TNF superfamily members and immunoglobulin superfamily members, mediating complex stimulatory and inhibitory immune signaling networks that regulate T-cell activation, survival, and differentiation. Mutations cause autosomal dominant immunodeficiency with susceptibility to viral infections and lymphoproliferation. This gene is highly constrained against loss-of-function variation, suggesting that haploinsufficiency may be poorly tolerated.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

OMIM 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

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P/LP missense

0.44

LOEUF

GOF

Mechanism· predicted