USP34

Chr 2

ubiquitin specific peptidase 34

NCBI Gene: 9736ENSG00000115464UniProt: Q70CQ2

Enables cysteine-type deubiquitinase activity and cysteine-type endopeptidase activity. Involved in positive regulation of canonical Wnt signaling pathway and protein K48-linked deubiquitination. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
congenital heart disease · ADLimitednot for standalone diagnostic reporting
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
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.09
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.09LOEUF
pLI 1.000
Z-score 12.39
OE 0.05 (0.03–0.09)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
2.34Z-score
OE missense 0.84 (0.81–0.88)
1513 obs / 1791.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.05 (0.03–0.09)
0≤0.351.4
Missense OE?0.84 (0.81–0.88)
0≤0.61.4
Synonymous OE?1.27
0≤1.21.6
LoF obs/exp: 11 / 200.2Missense obs/exp: 1513 / 1791.8Syn Z: -5.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

USP34 · 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