XIAP (E3 ubiquitin-protein ligase XIAP) variants and mutations

XIAP (also known as E3 ubiquitin-protein ligase XIAP) is a human protein-coding gene encoding an e3 ubiquitin-protein ligase protein. It directly restrains caspases and also participates in innate immune signaling, thereby controlling apoptosis and inflammatory responses. Loss-of-function variants cause X-linked lymphoproliferative syndrome type 2, with hemophagocytic lymphohistiocytosis, inflammatory bowel disease, and recurrent hyperinflammation. This analysis covers 845 XIAP variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes X-linked lymphoproliferative disease, neurodegenerative disease, and inflammatory bowel disease. Example XIAP variants include M1?, T2A, and F3*.

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, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable XIAP variants

Examples include M1?, T2A, F3*, F3F, S5G, S5N, S5S, F6L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.