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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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USP46
ubiquitin specific peptidase 46
Chromosome 4 · 4q12
NCBI Gene: 64854Ensembl: ENSG00000109189.14HGNC: HGNC:20075UniProt: P62068
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein deubiquitinationpositive regulation of canonical Wnt signaling pathwaycysteine-type deubiquitinase activitycytoplasmmale reproductive organ cancercardiovascular diseaseadult onset asthmadiabetes mellitus
✦AI Summary

USP46 (ubiquitin specific peptidase 46) is a deubiquitinating enzyme that requires WDR48 and WDR20 cofactors for optimal catalytic activity 1. The enzyme plays crucial roles in multiple cellular processes through substrate-specific deubiquitination. In Wnt signaling, USP46 forms a complex that deubiquitylates the Wnt coreceptor LRP6, promoting its stability and facilitating Wnt/β-catenin pathway activation essential for intestinal organoid viability 1. USP46 regulates synaptic transmission by controlling AMPA receptor trafficking, where DEPDC5/mTORC1 signaling modulates USP46 levels to maintain excitatory/inhibitory balance 2. The enzyme also deubiquitinates integrins, protecting them from lysosomal degradation and maintaining surface receptor levels 3. USP46 exhibits oncogenic properties in multiple cancers: it stabilizes oncogenic NRAS mutants when activated by CK1δ phosphorylation in melanoma 4, promotes HPV-transformed cancer proliferation by stabilizing Cdt2 5, and enhances triple-negative breast cancer progression through PGAM1 stabilization and glycolysis regulation 6. Additionally, USP46 functions as a histone H2A/H2B deubiquitinase regulating gene expression during development 7 and protects podocytes in diabetic nephropathy by preventing TDP-43 aggregation 8.

Sources cited
1
USP46 forms complex with WDR48/WDR20 to deubiquitylate LRP6 and promote Wnt signaling
PMID: 37798301
2
USP46 regulates excitatory synaptic transmission through AMPA receptor deubiquitination
PMID: 40467011
3
USP46 protects integrins from lysosomal degradation via deubiquitination
PMID: 39506038
4
USP46 stabilizes oncogenic NRAS mutants when phosphorylated by CK1δ
PMID: 39572526
5
USP46 promotes HPV-transformed cancer proliferation by stabilizing Cdt2
PMID: 30415951
6
USP46 enhances triple-negative breast cancer through PGAM1 stabilization
PMID: 36335636
7
USP46 functions as histone H2A/H2B deubiquitinase in development
PMID: 21183687
8
USP46 protects podocytes by preventing TDP-43 aggregation in diabetic nephropathy
PMID: 41811985
Disease Associationsⓘ20
male reproductive organ cancerOpen Targets
0.13Weak
cardiovascular diseaseOpen Targets
0.12Weak
adult onset asthmaOpen Targets
0.12Weak
diabetes mellitusOpen Targets
0.11Weak
stomach diseaseOpen Targets
0.11Weak
spinal cord injuryOpen Targets
0.11Weak
sialolithiasisOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.09Suggestive
lung cancerOpen Targets
0.08Suggestive
major depressive disorderOpen Targets
0.08Suggestive
Uterine leiomyomaOpen Targets
0.08Suggestive
oligodendrogliomaOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.06Suggestive
melanomaOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
glioblastoma multiformeOpen Targets
0.05Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBCProtein interaction100%RPS27AProtein interaction99%UBBProtein interaction98%UBA52Protein interaction97%PHLPP2Protein interaction93%PHLPP1Protein interaction93%
Tissue Expression6 tissues
Heart
100%
Brain
50%
Ovary
26%
Bone Marrow
25%
Liver
9%
Lung
8%
Gene Interaction Network
Click a node to explore
USP46UBCRPS27AUBBUBA52PHLPP2PHLPP1
PROTEIN STRUCTURE
Preparing viewer…
PDB5L8H · 1.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.48Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.28 [0.17–0.48]
RankingsWhere USP46 stands among ~20K protein-coding genes
  • #7,521of 20,598
    Most Researched62
  • #2,831of 17,882
    Most Constrained (LOEUF)0.48 · top quartile
Genes detectedUSP46
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The USP46 complex deubiquitylates LRP6 to promote Wnt/β-catenin signaling.
PMID: 37798301
Nat Commun · 2023
1.00
2
Pharmacological targeting of casein kinase 1δ suppresses oncogenic NRAS-driven melanoma.
PMID: 39572526
Nat Commun · 2024
0.90
3
DEPDC5 regulates the strength of excitatory synaptic transmission by interacting with ubiquitin-specific protease 46.
PMID: 40467011
Neurobiol Dis · 2025
0.80
4
The USP12/46 deubiquitinases protect integrins from ESCRT-mediated lysosomal degradation.
PMID: 39506038
EMBO Rep · 2024
0.70
5
The Deubiquitinase USP46 Is Essential for Proliferation and Tumor Growth of HPV-Transformed Cancers.
PMID: 30415951
Mol Cell · 2018
0.60