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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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USP42
ubiquitin specific peptidase 42
Chromosome 7 · 7p22.1
NCBI Gene: 84132Ensembl: ENSG00000106346.13HGNC: HGNC:20068UniProt: Q9H9J4
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cysteine-type deubiquitinase activityprotein bindingprotein deubiquitinationregulation of protein stabilityneurodegenerative diseaseCrohn's diseaseinflammatory bowel diseasegastric cancer
✦AI Summary

USP42 is a cysteine-type deubiquitinase that regulates protein stability through multiple cellular mechanisms. Functionally, USP42 catalyzes histone H2B deubiquitylation to regulate transcriptional activity independently of p53 1, and directs nuclear speckle phase separation to organize mRNA splicing machinery, particularly through PLRG1 integration 2. USP42 stabilizes diverse substrates including PPARγ in hepatocytes 3, and TRIM21/OAS1 in immune responses 4. Disease relevance is substantial across multiple malignancies. In gastric cancer, elevated USP42 correlates with tumor size, TNM stage, lymph node metastasis, and poor survival; USP42 silencing inhibits proliferation and invasion via matrix metalloproteinase/EMT regulation 5. In breast cancer, USP42 promotes progression by suppressing JNK/p38-mediated apoptosis, with expression correlating to advanced stage 6. USP42 also drives non-small-cell lung cancer through nuclear speckle-dependent splicing 2. Notably, RUNX1-USP42 fusion genes occur in acute myeloid leukemia through cryptic chr7 rearrangements 78, suggesting deregulated ubiquitin pathways contribute to leukemogenesis. Clinically, USP42 inhibition represents a novel anticancer strategy 2, while USP42-PPARγ axis activation shows therapeutic promise for liver regeneration and oxidative injury protection 3.

Sources cited
1
USP42 deubiquitylates histone H2B and regulates transcriptional activity
PMID: 25336640
2
USP42 directs nuclear speckle phase separation for mRNA splicing and promotes lung cancer tumorigenesis
PMID: 33731873
3
USP42 stabilizes PPARγ via deubiquitination and promotes liver regeneration and antioxidative protection
PMID: 40091484
4
USP42 stabilizes TRIM21 and OAS1 during Japanese encephalitis virus infection for neuroinflammatory response
PMID: 35779335
5
USP42 overexpression in gastric cancer correlates with tumor progression markers and poor survival
PMID: 27030989
6
USP42 promotes breast cancer progression by inhibiting JNK/p38-mediated apoptosis
PMID: 41120683
7
RUNX1-USP42 fusion gene occurs in acute myeloid leukemia through cryptic t(7;21) translocation
PMID: 16357831
8
RUNX1-USP42 fusion in AML can be generated by insertion mechanism mediated by segmental duplications
PMID: 25298786
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
Crohn's diseaseOpen Targets
0.27Weak
inflammatory bowel diseaseOpen Targets
0.27Weak
gastric cancerOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
azoospermiaOpen Targets
0.05Suggestive
partial chromosome Y deletionOpen Targets
0.04Suggestive
spermatogenic failure 54Open Targets
0.04Suggestive
spermatogenic failure 84Open Targets
0.04Suggestive
spermatogenic failure 93Open Targets
0.04Suggestive
spermatogenic failure 51Open Targets
0.04Suggestive
spermatogenic failure 65Open Targets
0.04Suggestive
spermatogenic failure 25Open Targets
0.04Suggestive
Hypergonadotropic hypogonadism - cataract syndromeOpen Targets
0.04Suggestive
hypergonadotropic hypogonadism-cataract syndromeOpen Targets
0.04Suggestive
spermatogenic failure 56Open Targets
0.04Suggestive
spermatogenic failure 92Open Targets
0.04Suggestive
spermatogenic failure 94Open Targets
0.04Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
USP17L15Shared pathway75%USP17L22Shared pathway75%USP17L21Shared pathway75%USP17L20Shared pathway75%USP17L19Shared pathway75%USP17L18Shared pathway75%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
30%
Brain
27%
Lung
23%
Liver
22%
Heart
19%
Gene Interaction Network
Click a node to explore
USP42USP17L15USP17L22USP17L21USP17L20USP17L19USP17L18
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H9J4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.25 [0.17–0.36]
RankingsWhere USP42 stands among ~20K protein-coding genes
  • #8,754of 20,598
    Most Researched51
  • #1,592of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedUSP42
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
USP42 drives nuclear speckle mRNA splicing via directing dynamic phase separation to promote tumorigenesis.
PMID: 33731873
Cell Death Differ · 2021
1.00
2
FGF2 Mediated USP42-PPARγ Axis Activation Ameliorates Liver Oxidative Damage and Promotes Regeneration.
PMID: 40091484
Adv Sci (Weinh) · 2025
0.90
3
Japanese Encephalitis Virus infection increases USP42 to stabilize TRIM21 and OAS1 for neuroinflammatory and anti-viral response in human microglia.
PMID: 35779335
Virology · 2022
0.80
4
Overexpression and Biological Function of Ubiquitin-Specific Protease 42 in Gastric Cancer.
PMID: 27030989
PLoS One · 2016
0.70
5
Deubiquitinating enzyme USP42 promotes breast cancer progression by inhibiting JNK/p38-mediated apoptosis.
PMID: 41120683
Sci Rep · 2025
0.60