TNFRSF12A

Chr 16

TNF receptor superfamily member 12A

Also known as: CD266, FN14, TWEAKR

NCBI Gene: 51330 ENSG00000006327 UniProt: Q9NP84 OMIM: 605914

The TNFRSF12A protein functions as a receptor for TNFSF12/TWEAK and regulates apoptosis, angiogenesis, endothelial cell proliferation, and wound healing. Mutations cause Opitz GBBB syndrome type 2, an X-linked disorder characterized by developmental abnormalities affecting multiple organ systems including craniofacial features, cardiac defects, and genitourinary anomalies. The gene shows tolerance to loss-of-function variants (pLI 0.018, LOEUF 1.53), suggesting haploinsufficiency may not be the primary disease mechanism.

OMIM ResearchSummary from RefSeq, UniProt

Involved in positive regulation of extrinsic apoptotic signaling pathway and regulation of wound healing. Predicted to be located in cell surface and ruffle. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.53

LOEUF

GOF

Mechanism· predicted