USP21

Chr 1

ubiquitin specific peptidase 21

Also known as: USP16, USP23

NCBI Gene: 27005ENSG00000143258UniProt: Q9UK80OMIM: 604729

This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
39
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.50
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.50LOEUF
pLI 0.003
Z-score 3.97
OE 0.31 (0.20–0.50)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.08Z-score
OE missense 0.69 (0.62–0.77)
250 obs / 361.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.31 (0.20–0.50)
0≤0.351.4
Missense OE?0.69 (0.62–0.77)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 12 / 38.6Missense obs/exp: 250 / 361.2Syn Z: 0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

USP21 · 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.

Search ClinicalTrials.gov →

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