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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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USP7
ubiquitin specific peptidase 7
Chromosome 16 Β· 16p13.2
NCBI Gene: 7874Ensembl: ENSG00000187555.18HGNC: HGNC:12630UniProt: B7Z855
648PubMed Papers
21Diseases
0Drugs
49Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHub GeneProtease
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
monoubiquitinated protein deubiquitinationp53 bindingcysteine-type endopeptidase activitycysteine-type deubiquitinase activityHao-Fountain syndromeHao-Fountain syndrome due to USP7 mutationneurodegenerative diseasegenetic disorder
✦AI Summary

USP7 (ubiquitin-specific peptidase 7) is a cysteine-type deubiquitinase that regulates protein stability through K48-linked polyubiquitin chain removal 1. Mechanistically, USP7 binds target proteins via its TRAF domain and removes ubiquitin modifications, stabilizing substrates including KRAS 1, KDM5B 2, PD-L1 3, TRIM24 4, and SCD 5. In cancer pathogenesis, USP7 promotes tumorigenesis across multiple mechanisms. USP7 stabilizes oncogenic KRAS, driving non-small cell lung cancer proliferation, with high USP7 expression correlating with poor survival and resistance to KRAS-G12C inhibitors 1. In nasopharyngeal carcinoma, USP7-mediated KDM5B stabilization promotes cisplatin resistance through the ZBTB16/TOP2A axis 2. USP7 also protects PD-L1 from degradation, enabling immune evasion across multiple cancer types 3. Conversely, in gastric cancer, USP7 inhibition induces ferroptotic cell death through SCD degradation 5. Clinically, USP7 represents a promising therapeutic target. USP7 inhibitors suppress cancer cell proliferation, particularly in drug-resistant contexts 1. Blocking USP7 synergizes with PD-L1 checkpoint inhibitors by promoting PD-L1 degradation and enhancing anti-tumor immunity 3. USP7 also regulates metabolic disorders 6 and is associated with Hao-Fountain syndrome, though inhibitors currently lack clinical approval.

Sources cited
1
USP7 (ubiquitin-specific peptidase 7) is a cysteine-type deubiquitinase that regulates protein stability through K48-linked polyubiquitin chain removal .
PMID: 39499616
2
Mechanistically, USP7 binds target proteins via its TRAF domain and removes ubiquitin modifications, stabilizing substrates including KRAS , KDM5B , PD-L1 , TRIM24 , and SCD .
PMID: 38287116
3
Mechanistically, USP7 binds target proteins via its TRAF domain and removes ubiquitin modifications, stabilizing substrates including KRAS , KDM5B , PD-L1 , TRIM24 , and SCD .
PMID: 37001908
4
Mechanistically, USP7 binds target proteins via its TRAF domain and removes ubiquitin modifications, stabilizing substrates including KRAS , KDM5B , PD-L1 , TRIM24 , and SCD .
PMID: 38129408
5
Mechanistically, USP7 binds target proteins via its TRAF domain and removes ubiquitin modifications, stabilizing substrates including KRAS , KDM5B , PD-L1 , TRIM24 , and SCD .
PMID: 38460164
6
USP7 also regulates metabolic disorders and is associated with Hao-Fountain syndrome, though inhibitors currently lack clinical approval.
PMID: 36834633
Disease Associationsβ“˜21
Hao-Fountain syndromeOpen Targets
0.76Strong
Hao-Fountain syndrome due to USP7 mutationOpen Targets
0.68Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.48Moderate
developmental disorder of mental healthOpen Targets
0.37Weak
Burkitts lymphomaOpen Targets
0.35Weak
Neurodevelopmental disorderOpen Targets
0.35Weak
HypotoniaOpen Targets
0.34Weak
Intellectual disabilityOpen Targets
0.27Weak
sialadenitisOpen Targets
0.24Weak
adrenal gland hyperfunctionOpen Targets
0.21Weak
hyperaldosteronismOpen Targets
0.21Weak
atrial heart septal defectOpen Targets
0.16Weak
multiple myelomaOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
acute lymphoblastic leukemiaOpen Targets
0.10Weak
Hao-Fountain syndromeUniProt
Pathogenic Variants49
NM_003470.3(USP7):c.2596C>T (p.Gln866Ter)Pathogenic
Hypotonia|Hao-Fountain syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 866
NM_003470.3(USP7):c.1522C>T (p.Arg508Ter)Pathogenic
not provided|Hao-Fountain syndrome due to USP7 mutation
β˜…β˜…β˜†β˜†2024β†’ Residue 508
NM_003470.3(USP7):c.611+1G>ALikely pathogenic
Inborn genetic diseases|not provided|Neoplasm|Malignant tumor of urinary bladder
β˜…β˜…β˜†β˜†2023
NM_003470.3(USP7):c.715C>T (p.Arg239Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 239
NM_003470.3(USP7):c.2551_2675del125 (p.Asn851fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 851
NM_003470.3(USP7):c.3067C>T (p.Arg1023Ter)Likely pathogenic
Hao-Fountain syndrome due to USP7 mutation
β˜…β˜†β˜†β˜†2025β†’ Residue 1023
NM_003470.3(USP7):c.383+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003470.3(USP7):c.46C>T (p.Gln16Ter)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 16
NM_003470.3(USP7):c.1079-1_1079delinsTGPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003470.3(USP7):c.2617C>G (p.Pro873Ala)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 873
NM_003470.3(USP7):c.10C>T (p.Gln4Ter)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 4
NM_003470.3(USP7):c.523-1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_003470.3(USP7):c.1749del (p.Met583fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 583
NM_003470.3(USP7):c.2403_2407del (p.Lys801fs)Likely pathogenic
Hao-Fountain syndrome due to USP7 mutation
β˜…β˜†β˜†β˜†2024β†’ Residue 801
NM_003470.3(USP7):c.1463del (p.Cys488fs)Pathogenic
Hao-Fountain syndrome due to USP7 mutation
β˜…β˜†β˜†β˜†2023β†’ Residue 488
NM_003470.3(USP7):c.2234_2235del (p.Arg745fs)Likely pathogenic
Hao-Fountain syndrome due to USP7 mutation
β˜…β˜†β˜†β˜†2023β†’ Residue 745
NM_003470.3(USP7):c.901C>G (p.Arg301Gly)Likely pathogenic
USP7-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 301
NM_003470.3(USP7):c.1849_1850dup (p.Gln617fs)Likely pathogenic
Hao-Fountain syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 617
NM_003470.3(USP7):c.907-1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_003470.3(USP7):c.1157T>A (p.Leu386Ter)Likely pathogenic
Hao-Fountain syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 386
View on ClinVar β†—
Related Genes
DAXXProtein interaction100%DNMT1Protein interaction100%FOXO3Protein interaction100%MDM2Protein interaction100%MDM4Protein interaction100%FOXO4Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
81%
Heart
50%
Lung
46%
Ovary
43%
Liver
41%
Gene Interaction Network
Click a node to explore
USP7DAXXDNMT1FOXO3MDM2MDM4FOXO4
PROTEIN STRUCTURE
Preparing viewer…
PDB4YSI Β· 1.02 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.09Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.05 [0.03–0.09]
RankingsWhere USP7 stands among ~20K protein-coding genes
  • #346of 20,598
    Most Researched648 Β· top 5%
  • #1,345of 5,498
    Most Pathogenic Variants49 Β· top quartile
  • #32of 17,882
    Most Constrained (LOEUF)0.09 Β· top 1%
Genes detectedUSP7
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
USP7 deubiquitinates KRAS and promotes non-small cell lung cancer.
PMID: 39499616
Cell Rep Β· 2024
1.00
2
Blocking Ubiquitin-Specific Protease 7 Induces Ferroptosis in Gastric Cancer via Targeting Stearoyl-CoA Desaturase.
PMID: 38460164
Adv Sci (Weinh) Β· 2024
0.90
3
Mitochondrial-Derived Peptide MOTS-c Suppresses Ovarian Cancer Progression by Attenuating USP7-Mediated LARS1 Deubiquitination.
PMID: 39321430
Adv Sci (Weinh) Β· 2024
0.84
4
Stabilization of KPNB1 by deubiquitinase USP7 promotes glioblastoma progression through the YBX1-NLGN3 axis.
PMID: 38254206
J Exp Clin Cancer Res Β· 2024
0.80
5
Ubiquitin-Specific Proteases (USPs) and Metabolic Disorders.
PMID: 36834633
Int J Mol Sci Β· 2023
0.80