USP17L4

Chr 8

ubiquitin specific peptidase 17 like family member 4

NCBI Gene: 645402ENSG00000236125UniProt: A6NCW7

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
89
Pathogenic / LP
158
ClinVar variants
0
Pubs (1 yr)
—
Missense Z
—
LOEUF
Clinical Summary— USP17L4
📋
ClinVar Variants
89 Pathogenic / Likely Pathogenic· 3 VUS of 158 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

DNGOF
DN
0.75top 25%
GOF
0.7029th %ile
LOF
0.3259th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

158 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic86
Likely Pathogenic3
VUS3
Likely Benign2
Benign64
86
Pathogenic
3
Likely Pathogenic
3
VUS
2
Likely Benign
64
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————86
Likely Pathogenic
————3
VUS
————3
Likely Benign
————2
Benign
————64
Total—158

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

USP17L4 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Immunogenomic diversity of triple-negative breast cancers in obese and non-obese black and white women
Hossain F et al.·NPJ Breast Cancer
2025
Integrative genome-wide analyses reveal the transcriptional aberrations in Japanese esophageal squamous cell carcinoma
Takemoto A et al.·Cancer Sci
2021
Genome-wide copy number analysis of circulating tumor cells in breast cancer patients with liver metastasis
Zou L et al.·Oncol Rep
2020Cohort
The DUB/USP17 deubiquitinating enzymes: A gene family within a tandemly repeated sequence, is also embedded within the copy number variable Beta-defensin cluster
Burrows JF et al.·BMC Genomics
2010
Ubiquitination and deubiquitination of MCL1 in cancer: deciphering chemoresistance mechanisms and providing potential therapeutic options
Wu X et al.·Cell Death Dis
2020Functional
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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