TNFRSF4 (P43489) variants and mutations

TNFRSF4 (also known as P43489) is a human protein-coding gene encoding a tumor necrosis factor receptor superfamily member 4 protein. It provides a costimulatory signal that promotes survival and expansion of activated T cells while influencing regulatory T-cell function. Modulating OX40 signaling is being explored to enhance antitumor immunity or suppress inflammatory disease. This analysis covers 713 TNFRSF4 variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes combined immunodeficiency due to OX40 deficiency, atopic eczema, and combined immunodeficiency. Example TNFRSF4 variants include M1L, C2*, and C2R.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable TNFRSF4 variants

Examples include M1L, C2*, C2R, C2W, C2Y, V3L, V3M, G4A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.