USP14
Chr 18ubiquitin specific peptidase 14
Also known as: TGT, Ubp6
This deubiquitinase enzyme removes ubiquitin from proteasome-targeted proteins and regulates protein degradation pathways essential for synaptic function. Mutations cause autosomal recessive neurodevelopmental disorders with early-onset developmental delay, ataxia, and intellectual disability. The gene is highly constrained against loss-of-function variants (pLI 0.91), reflecting its critical role in neuronal development and synaptic transmission.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
USP14 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools