USP22

Chr 17

ubiquitin specific peptidase 22

Also known as: USP3L

NCBI Gene: 23326ENSG00000124422UniProt: Q9UPT9

Enables deubiquitinase activity; enzyme binding activity; and transcription coactivator activity. Contributes to histone H4 acetyltransferase activity. Involved in several processes, including G2/M transition of mitotic cell cycle; protein deubiquitination; and regulation of gene expression. Part of SAGA complex. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
36
Pubs (1 yr)
3.6
Missense Z· constrained
0.41
LOEUF
Clinical Summary— USP22
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.55) — some intolerance to loss-of-function variants.
Some data sources returned errors (1)

pubtator: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint
0.41LOEUF
pLI 0.552
Z-score 3.91
OE 0.21 (0.11–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
3.56Z-score
OE missense 0.43 (0.37–0.49)
130 obs / 305.1 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.21 (0.11–0.41)
0≤0.351.4
Missense OE0.43 (0.37–0.49)
0≤0.61.4
Synonymous OE0.87
0≤1.21.6
LoF obs/exp: 6 / 28.6Missense obs/exp: 130 / 305.1Syn Z: 1.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

USP22 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients