TNFRSF9

Chr 1

TNF receptor superfamily member 9

Also known as: 4-1BB, CD137, CDw137, ILA, IMD109

NCBI Gene: 3604 ENSG00000049249 UniProt: Q07011

The protein is a TNF receptor superfamily member that enhances CD8+ T-cell survival and cytotoxicity, contributing to clonal expansion and development of T cells while promoting Th1 cell responses and immunity against viruses and tumors. Autosomal recessive mutations cause immunodeficiency 109 with lymphoproliferation, affecting the immune system. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.606).

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 109 with lymphoproliferation

Clinical highlights

Gene-disease validity (ClinGen)

immunodeficiency 109 with lymphoproliferation · ARDefinitivesufficient evidence for diagnostic panels

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

0.61

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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