USP22
Chr 17ubiquitin specific peptidase 22
Also known as: USP3L
USP22 encodes a deubiquitinase that removes ubiquitin from histones H2A and H2B as part of the SAGA transcriptional complex and regulates cell cycle progression, immune signaling, and gene expression. Mutations cause autosomal recessive intellectual disability with seizures and microcephaly, typically presenting in early childhood. The gene shows significant constraint against loss-of-function variants (LOEUF 0.415), indicating intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
USP22 · 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