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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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USP17L2
ubiquitin specific peptidase 17 like family member 2
Chromosome 8 · 8p23.1
NCBI Gene: 377630Ensembl: ENSG00000223443.3HGNC: HGNC:34434UniProt: Q6R6M4
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cysteine-type deubiquitinase activityprotein bindingnegative regulation of protein targeting to membraneregulation of G2/MI transition of meiotic cell cyclenon-small cell lung carcinomabreast cancerhepatocellular carcinomaneoplasm
✦AI Summary

USP17L2 is a deubiquitinating enzyme that plays complex roles in cancer biology through regulation of multiple cellular pathways. The protein stabilizes several key substrates by removing ubiquitin conjugates, including SIRT7, which promotes DNA damage repair and chemoresistance in breast cancer cells 1. USP17L2 also deubiquitinates and stabilizes c-Myc, thereby promoting cell proliferation and glycolysis 2. The enzyme regulates transcription factor ELK-1 by removing monoubiquitin from its ETS domain, which augments transcriptional activity and promotes cell proliferation 3. Genomic analysis has identified USP17L2 as part of focal high-level DNA amplifications in breast cancer, with copy number variations detected in circulating cell-free DNA potentially serving as biomarkers for minimal residual disease 4. Hemizygous deletions in USP17L2 have been associated with familial endometriosis, suggesting broader roles in reproductive disorders 5. The dual nature of USP17L2's substrates, which populate both proliferation-promoting and proliferation-inhibiting pathways, may explain conflicting evidence regarding its oncogenic versus tumor suppressor properties 6. These findings position USP17L2 as a potential therapeutic target and prognostic factor in cancer.

Sources cited
1
USP17L2 interacts with and deubiquitinates SIRT7, promoting DNA damage repair and chemoresistance in breast cancer
PMID: 36040642
2
USP17L2 deubiquitinates and stabilizes c-Myc protein, controlling cell proliferation and glycolysis
PMID: 35076962
3
USP17 removes monoubiquitin from ELK-1 ETS domain, augmenting transcriptional activity and promoting proliferation
PMID: 33428929
4
USP17L2 is part of focal high-level DNA amplifications in breast cancer and detectable in circulating cell-free DNA
PMID: 21990379
5
Hemizygous deletions in USP17L2 are associated with familial endometriosis
PMID: 30628680
6
USP17 substrates populate pathways that both promote and inhibit cell cycle progression, explaining conflicting cancer roles
PMID: 33227393
Disease Associationsⓘ20
non-small cell lung carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
cancerOpen Targets
0.09Suggestive
lung cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.06Suggestive
immunodeficiency 19Open Targets
0.04Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.03Suggestive
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaOpen Targets
0.03Suggestive
breast neoplasmOpen Targets
0.03Suggestive
immunodeficiency 15aOpen Targets
0.03Suggestive
ring chromosome YOpen Targets
0.03Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.03Suggestive
severe combined immunodeficiency due to LAT deficiencyOpen Targets
0.03Suggestive
obesity due to congenital leptin deficiencyOpen Targets
0.03Suggestive
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
0.03Suggestive
immunodeficiency 105Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZUP1Protein interaction91%RCE1Protein interaction86%SUDS3Protein interaction85%SNAI1Protein interaction81%USP17L25Protein interaction79%USP17L15Shared pathway25%
Tissue Expression6 tissues
Ovary
100%
Brain
75%
Lung
0%
Liver
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
USP17L2ZUP1RCE1SUDS3SNAI1USP17L25USP17L15
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6R6M4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.34 [0.99–1.79]
RankingsWhere USP17L2 stands among ~20K protein-coding genes
  • #8,267of 20,598
    Most Researched55
  • #16,514of 17,882
    Most Constrained (LOEUF)1.79
Genes detectedUSP17L2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
USP17L2-SIRT7 axis regulates DNA damage repair and chemoresistance in breast cancer cells.
PMID: 36040642
Breast Cancer Res Treat · 2022
1.00
2
Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis.
PMID: 30628680
Mol Med Rep · 2019
0.90
3
Literature-Based Discovery to Elucidate the Biological Links between Resistant Hypertension and COVID-19.
PMID: 37759668
Biology (Basel) · 2023
0.80
4
Genomic analysis of circulating cell-free DNA infers breast cancer dormancy.
PMID: 21990379
Genome Res · 2012
0.70
5
JOSD2 promotes breast cancer metastasis by deubiquitinating and stabilizing SMAD4.
PMID: 39793716
Biochem Pharmacol · 2025
0.60