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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
USP17L7
ubiquitin specific peptidase 17 like family member 7
Chromosome 8 Β· 8p23.1
NCBI Gene: 392197Ensembl: ENSG00000226430.7HGNC: HGNC:37180UniProt: P0C7H9
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cysteine-type deubiquitinase activityregulation of apoptotic processnucleuscytosolimmunodeficiency 19combined immunodeficiency with skin granulomasimmunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaimmunodeficiency 15a
✦AI Summary

Based on limited published evidence, USP17L7 encodes a cysteine-type deubiquitinase localized to the cytosol and nucleus with annotated roles in regulating apoptotic processes and protein stability. However, no functional studies directly characterize its enzymatic activity or molecular mechanisms. USP17L7 copy number variations were associated with poor prognosis in lung squamous cell carcinoma patients 1 and showed association with gut microbiota composition 2, though the biological significance of these associations remains unclear.

Sources cited
1
USP17L7 copy number variations in counterpart normal controls were associated with poor prognosis in lung squamous cell carcinoma patients
PMID: 29185122
2
USP17L7 copy number variations were related to gut microbiota composition differences among cohort individuals
PMID: 40659563
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
immunodeficiency 19Open Targets
0.04Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.03Suggestive
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaOpen Targets
0.03Suggestive
immunodeficiency 15aOpen Targets
0.03Suggestive
ring chromosome YOpen Targets
0.03Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.03Suggestive
severe combined immunodeficiency due to LAT deficiencyOpen Targets
0.03Suggestive
obesity due to congenital leptin deficiencyOpen Targets
0.03Suggestive
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
0.03Suggestive
immunodeficiency 105Open Targets
0.03Suggestive
Alymphoid cystic thymic dysgenesisOpen Targets
0.03Suggestive
obesity due to leptin receptor gene deficiencyOpen Targets
0.03Suggestive
immunodeficiency 112Open Targets
0.03Suggestive
common variable immunodeficiencyOpen Targets
0.03Suggestive
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
0.03Suggestive
spermatogenic failure 84Open Targets
0.03Suggestive
spermatogenic failure 93Open Targets
0.03Suggestive
spermatogenic failure 65Open Targets
0.03Suggestive
immunodeficiency 18Open Targets
0.03Suggestive
immunodeficiency 76Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
USP17L15Shared pathway100%USP17L22Shared pathway100%USP17L21Shared pathway100%USP17L20Shared pathway100%USP17L19Shared pathway100%USP17L18Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Ovary
86%
Heart
0%
Bone Marrow
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
USP17L7USP17L15USP17L22USP17L21USP17L20USP17L19USP17L18
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt P0C7H9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.80 [1.37–1.97]
RankingsWhere USP17L7 stands among ~20K protein-coding genes
  • #13,564of 20,598
    Most Researched23
  • #17,786of 17,882
    Most Constrained (LOEUF)1.97
Genes detectedUSP17L7
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Genomic variations in the counterpart normal controls of lung squamous cell carcinomas.
PMID: 29185122
Front Med Β· 2018
1.00
2
Association between Gut Microbiota Composition and Copy Number Variations in Human Genes
PMID: 40659563
J Microbiol Biotechnol Β· 2025
0.50