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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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USP12
ubiquitin specific peptidase 12
Chromosome 13 · 13q12.13
NCBI Gene: 219333Ensembl: ENSG00000152484.15HGNC: HGNC:20485UniProt: O75317
66PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cysteine-type endopeptidase activitycysteine-type deubiquitinase activityprotein bindingprotein deubiquitinationlagophthalmosinflammatory bowel diseaseulcerative colitisblood coagulation disease
✦AI Summary

USP12 is a deubiquitinating enzyme that removes ubiquitin modifications from target proteins to regulate their stability and cellular localization. USP12 functions as part of a ternary complex with cofactors WDR48 (UAF-1) and WDR20, which are required for its catalytic activity 1. The enzyme exhibits diverse substrate specificity, deubiquitinating histones H2A and H2B to regulate gene expression during development 2, stabilizing β1 integrin by preventing ESCRT-mediated lysosomal degradation 3, and deubiquitinating RRM2 to promote DNA synthesis 4. USP12 also stabilizes c-Myc through WDR20-mediated deubiquitination 5 and regulates androgen receptor stability in prostate cancer 1. In cancer contexts, USP12 displays complex roles: it can act as a tumor suppressor when downregulated in KRAS-driven lung cancer, where loss of USP12 promotes immunosuppressive microenvironments through PPM1B-NF-κB signaling 6, yet also functions as an oncogene in other contexts by stabilizing pro-tumorigenic proteins. The enzyme's dysregulation contributes to various diseases including multiple cancers, cardiac hypertrophy, and bone disorders 78, making it a potential therapeutic target with context-dependent functions requiring careful consideration for clinical applications.

Sources cited
1
USP12 functions in a complex with cofactors WDR48/UAF-1 and WDR20 required for catalytic activity and regulates androgen receptor stability
PMID: 26462181
2
USP12 deubiquitinates histones H2A and H2B and regulates Xenopus development during gastrula stages
PMID: 21183687
3
USP12 complex stabilizes β1 integrin by preventing ESCRT-mediated lysosomal degradation in early endosomes
PMID: 39506038
4
USP12 directly deubiquitinates and stabilizes RRM2 to promote DNA synthesis in non-small cell lung cancer
PMID: 37341611
5
WDR20 orchestrates USP12/46-mediated deubiquitination of c-Myc in hepatocellular carcinoma
PMID: 39432777
6
USP12 downregulation in KRAS-driven lung cancer promotes immunosuppressive microenvironments through PPM1B-NF-κB signaling
PMID: 34381028
7
USP12 dysregulation contributes to various cancers, cardiac hypertrophy, and other diseases
PMID: 37752518
8
USP12 dysregulation contributes to bone disorders and osteoporosis
PMID: 40427572
Disease Associationsⓘ20
lagophthalmosOpen Targets
0.29Weak
inflammatory bowel diseaseOpen Targets
0.12Weak
ulcerative colitisOpen Targets
0.10Suggestive
blood coagulation diseaseOpen Targets
0.09Suggestive
Paralytic ileusOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
aortic stenosisOpen Targets
0.08Suggestive
Left bundle branch blockOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
Huntington diseaseOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
skin diseaseOpen Targets
0.07Suggestive
MODYOpen Targets
0.06Suggestive
Split hand-split foot malformationOpen Targets
0.06Suggestive
ankylosing spondylitisOpen Targets
0.05Suggestive
Crohn's diseaseOpen Targets
0.05Suggestive
psoriasisOpen Targets
0.05Suggestive
Transcobalamin deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
USP24Shared pathway100%USP35Shared pathway100%USP48Shared pathway100%UBA52Protein interaction100%UBBProtein interaction100%UBCProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
44%
Lung
40%
Liver
38%
Heart
37%
Ovary
25%
Gene Interaction Network
Click a node to explore
USP12USP24USP35USP48UBA52UBBUBC
PROTEIN STRUCTURE
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PDB5K1A · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.60LoF Tolerant
pLIⓘ
0.47Tolerant
Observed/Expected LoF0.40 [0.27–0.60]
RankingsWhere USP12 stands among ~20K protein-coding genes
  • #7,134of 20,598
    Most Researched66
  • #4,110of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedUSP12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Spotlights on ubiquitin-specific protease 12 (USP12) in diseases: from multifaceted roles to pathophysiological mechanisms.
PMID: 37752518
J Transl Med · 2023
1.00
2
USP12 downregulation orchestrates a protumourigenic microenvironment and enhances lung tumour resistance to PD-1 blockade.
PMID: 34381028
Nat Commun · 2021
0.90
3
USP12 promotes nonsmall cell lung cancer progression through deubiquitinating and stabilizing RRM2.
PMID: 37341611
Mol Carcinog · 2023
0.80
4
Regulatory Roles of E3 Ubiquitin Ligases and Deubiquitinases in Bone.
PMID: 40427572
Biomolecules · 2025
0.70
5
The USP12/46 deubiquitinases protect integrins from ESCRT-mediated lysosomal degradation.
PMID: 39506038
EMBO Rep · 2024
0.60