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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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USP38
ubiquitin specific peptidase 38
Chromosome 4 · 4q31.21
NCBI Gene: 84640Ensembl: ENSG00000170185.12HGNC: HGNC:20067UniProt: A0A804HIT0
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of proteasomal ubiquitin-dependent protein catabolic processprotein K33-linked deubiquitinationprotein bindingcytoplasmhypertensionessential hypertensiongoutkidney failure
✦AI Summary

USP38 is a deubiquitinating enzyme that plays critical roles in cardiovascular disease pathogenesis through multiple mechanisms. In diabetic cardiomyopathy, USP38 is significantly upregulated and exacerbates cardiac dysfunction by deubiquitinating and inactivating ACAD11, leading to abnormal fatty acid oxidation and activation of the RAGE pathway 1. USP38 also promotes atrial fibrillation in diabetic mice by stabilizing iron regulatory protein 2 (IRP2), increasing intracellular iron overload and contributing to ferroptosis 2. In chr4 kidney disease, USP38 enhances ventricular arrhythmia susceptibility by stabilizing NOX4 through deubiquitination, resulting in increased oxidative stress and CaMKII hyperphosphorylation 3. Additionally, USP38 aggravates doxorubicin-induced cardiotoxicity by deubiquitinating and stabilizing PTEN, thereby suppressing PI3K/Akt-mediated pro-survival signaling 4. Beyond cardiovascular disease, USP38 functions as an oncogene by stabilizing MDM2, leading to p53 degradation and enhanced cancer cell proliferation, migration, and invasion 5. Genome-wide association studies have identified USP38-DT as a novel susceptibility gene for multiple system atrophy 6. These findings establish USP38 as a crucial regulator of protein stability with significant therapeutic potential across multiple disease contexts.

Sources cited
1
USP38 exacerbates diabetic cardiomyopathy by deubiquitinating ACAD11 and activating RAGE pathway
PMID: 40460554
2
USP38 promotes atrial fibrillation by stabilizing IRP2 and contributing to ferroptosis
PMID: 39173894
3
USP38 enhances ventricular arrhythmia susceptibility in CKD by stabilizing NOX4
PMID: 40482978
4
USP38 aggravates doxorubicin-induced cardiotoxicity by stabilizing PTEN
PMID: 41166987
5
USP38 functions as oncogene by stabilizing MDM2 and suppressing p53
PMID: 39987355
6
USP38-DT identified as novel susceptibility gene for multiple system atrophy
PMID: 38701790
Disease Associationsⓘ20
hypertensionOpen Targets
0.47Moderate
essential hypertensionOpen Targets
0.43Moderate
goutOpen Targets
0.42Moderate
kidney failureOpen Targets
0.41Moderate
substance-related disorderOpen Targets
0.40Weak
chronic kidney diseaseOpen Targets
0.38Weak
kidney diseaseOpen Targets
0.37Weak
hypertensive heart diseaseOpen Targets
0.36Weak
Increased blood pressureOpen Targets
0.36Weak
cardiovascular diseaseOpen Targets
0.35Weak
papillary renal cell carcinomaOpen Targets
0.32Weak
obesityOpen Targets
0.30Weak
response to xenobiotic stimulusOpen Targets
0.29Weak
glomerulonephritisOpen Targets
0.17Weak
asthmaOpen Targets
0.17Weak
atrial fibrillationOpen Targets
0.09Suggestive
myocardial infarctionOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
Zika virus infectious diseaseOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
USP12Shared pathway40%USP48Shared pathway40%USP35Shared pathway40%USP24Shared pathway40%USP26Shared pathway38%PANO1Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
70%
Brain
66%
Liver
57%
Lung
51%
Ovary
25%
Gene Interaction Network
Click a node to explore
USP38USP12USP48USP35USP24USP26PANO1
PROTEIN STRUCTURE
Preparing viewer…
PDB4RXX · 2.06 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.39–0.64]
RankingsWhere USP38 stands among ~20K protein-coding genes
  • #10,415of 20,598
    Most Researched39
  • #4,591of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedUSP38
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome sequence analyses identify novel risk loci for multiple system atrophy.
PMID: 38701790
Neuron · 2024
1.00
2
Ubiquitin-specific protease 38 exacerbates diabetic cardiomyopathy via post-translational modification of ACAD11.
PMID: 40460554
Redox Biol · 2025
0.90
3
USP38 functions as an oncoprotein by downregulating the p53 pathway through deubiquitination and stabilization of MDM2.
PMID: 39987355
Cell Death Differ · 2025
0.80
4
Ubiquitin-specific protease 38 promotes atrial fibrillation in diabetic mice by stabilizing iron regulatory protein 2.
PMID: 39173894
Free Radic Biol Med · 2024
0.70
5
USP38 stabilizes NOX4 and activates CaMKII to enhance ventricular arrhythmias susceptibility in CKD mice.
PMID: 40482978
Free Radic Biol Med · 2025
0.60