TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) variants and mutations

TRAF3IP2 (also known as E3 ubiquitin ligase TRAF3IP2) is a human protein-coding gene encoding an e3 ubiquitin ligase protein. It connects IL-17 receptors to downstream NF-kappaB and MAPK signaling and is therefore central to barrier-tissue inflammatory responses. Pathogenic loss-of-function variants can cause chronic mucocutaneous candidiasis, while common variants influence psoriasis and related inflammatory disease. This analysis covers 307 TRAF3IP2 variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes Chronic mucocutaneous candidosis, psoriasis, and rheumatoid arthritis. Example TRAF3IP2 variants include N11D, P15L, and D19N.

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, MaveDB, LitVar.

Notable TRAF3IP2 variants

Examples include N11D, P15L, D19N, E20Q, S21L, Y24D, P25T, Q27*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.