UBQLN2 (Ubiquilin-2) variants and mutations

UBQLN2 (also known as Ubiquilin-2) is a human protein-coding gene encoding an ubiquilin-2 protein. It shuttles ubiquitinated proteins toward proteasomal or autophagic degradation and helps maintain protein quality in neurons. Dominant X-linked variants can cause amyotrophic lateral sclerosis with or without frontotemporal dementia through impaired proteostasis. This analysis covers 1,019 UBQLN2 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes amyotrophic lateral sclerosis type 15, amyotrophic lateral sclerosis, and familial amyotrophic lateral sclerosis. Example UBQLN2 variants include A2S, A2T, and A2D.

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 UBQLN2 variants

Examples include A2S, A2T, A2D, A2V, A2A, E3D, E3K, E3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.