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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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USP6
ubiquitin specific peptidase 6
Chromosome 17 · 17p13.2
NCBI Gene: 9098Ensembl: ENSG00000129204.17HGNC: HGNC:12629UniProt: P35125
84PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
OncogeneProtease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
postsynaptic density, intracellular componentprotein bindingrecycling endosomeplasma membranecolorectal adenocarcinomahepatocellular carcinomaaneurysmal bone cystOsteoblastoma
✦AI Summary

USP6 is a hominoid-specific deubiquitinase enzyme located on chromosome 17 that functions as an ATP-independent isopeptidase cleaving ubiquitin moieties and regulating its own deubiquitination 1. It promotes plasma membrane localization of ARF6 and selectively regulates ARF6-dependent endocytic protein trafficking, with potential roles in intracellular trafficking and inflammatory signaling 1. Clinically, USP6 is most significant as a molecular marker for benign mesenchymal neoplasms rather than for its intrinsic biochemical function. USP6 gene rearrangements—including promoter-swapping fusions with various partners (SPTAN1, TMP4, SPARC, EIF5A, and others)—define a family of typically benign, self-limiting fibroblastic/myofibroblastic tumors 12. This spectrum includes aneurysmal bone cysts, nodular fasciitis, myositis ossificans, fibroma of tendon sheath, and fibro-osseous pseudotumor of digits 34. USP6 rearrangements have high diagnostic utility: FISH analysis for USP6 demonstrates 86% sensitivity and 100% specificity for confirming nodular fasciitis diagnosis, with 100% positive predictive value 5. Molecular identification of USP6 fusions is essential in routine diagnostics to prevent misdiagnosis of these benign lesions as malignancies and to understand biological behavior 26.

Sources cited
1
USP6 is a hominoid-specific gene on chromosome 17p13 serving as a deubiquitinating enzyme involved in intracellular trafficking, inflammatory signaling, and cell transformation; rearrangements result in promoter swapping and overexpression
PMID: 33608306
2
USP6-driven mesenchymal neoplasms form a family including myositis ossificans, aneurysmal bone cyst, nodular fasciitis, fibroma of tendon sheath, and fibro-osseous pseudotumor of digits that are generally benign and self-limiting
PMID: 35962835
3
USP6 rearrangements involve multiple partners and the tumorigenesis relates to tissue remodeling and repair processes
PMID: 36205240
4
USP6 fusion partners in nodular fasciitis include novel (KIF1A) and rare examples (TMP4, SPARC, EIF5A, MIR22HG, COL1A2); identification helps prevent misdiagnosis of malignancy
PMID: 36828621
5
USP6 FISH analysis has 86% sensitivity and 100% specificity for nodular fasciitis diagnosis with 100% positive predictive value
PMID: 27271298
6
Novel USP6 fusion (SPTAN1::USP6) identified in nodular fasciitis; USP6 gene rearrangement confirms diagnosis
PMID: 39167308
Disease Associationsⓘ20
colorectal adenocarcinomaOpen Targets
0.46Moderate
hepatocellular carcinomaOpen Targets
0.44Moderate
aneurysmal bone cystOpen Targets
0.39Weak
OsteoblastomaOpen Targets
0.37Weak
chondroblastomaOpen Targets
0.37Weak
breast adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
gastrointestinal stromal tumorOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
leiomyosarcomaOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
nodular melanomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
thyroid neoplasmOpen Targets
0.37Weak
acute myeloid leukemiaOpen Targets
0.34Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TBC1D7Protein interaction100%TBC1D25Protein interaction99%CDC16Protein interaction99%TSC1Protein interaction98%TSC2Protein interaction98%TBC1D7-LOC100130357Protein interaction98%
Tissue Expression6 tissues
Ovary
100%
Brain
98%
Lung
49%
Liver
43%
Heart
7%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
USP6TBC1D7TBC1D25CDC16TSC1TSC2TBC1D7-LOC100130357
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P35125
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.63–0.85]
RankingsWhere USP6 stands among ~20K protein-coding genes
  • #5,705of 20,598
    Most Researched84
  • #7,419of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedUSP6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Osteosarcoma: Old and New Challenges.
PMID: 34742481
Surg Pathol Clin · 2021
1.00
2
Nodular Fasciitis of the Buccal Mucosa with a Novel USP6 Gene Rearrangement: A Case Report and Review of the Literature.
PMID: 39167308
Head Neck Pathol · 2024
0.90
3
Histopathogenesis of bone- and soft-tissue tumor spectrum with USP6 gene rearrangement: multiple partners involved in the tissue repair process.
PMID: 36205240
Histol Histopathol · 2023
0.80
4
Pediatric Bone Tumors.
PMID: 40716923
Surg Pathol Clin · 2025
0.70
5
Multimodality imaging features of USP6-associated neoplasms.
PMID: 35962835
Skeletal Radiol · 2023
0.60