TNFSF4

Chr 1

TNF superfamily member 4

Also known as: CD134L, CD252, GP34, OX-40L, OX4OL, TNLG2B, TXGP1

NCBI Gene: 7292 ENSG00000117586 UniProt: P23510 OMIM: 603594

The protein is a cytokine that binds to TNFRSF4 and co-stimulates T-cell proliferation and cytokine production, functioning in T cell-antigen presenting cell interactions and mediating adhesion of activated T cells to endothelial cells. Mutations in this gene are associated with susceptibility to myocardial infarction with autosomal dominant inheritance. The gene is not highly constrained against loss-of-function variants, suggesting tolerance to such changes.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogren's syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

OMIM ResearchGenerating clinical summary…