1 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
cysteine-type deubiquitinase activityregulation of protein stabilityregulation of apoptotic processnucleusimmunodeficiency 19combined immunodeficiency with skin granulomasimmunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaimmunodeficiency 15a
Based on limited published evidence, USP17L20 is a cysteine-type deubiquitinase that removes conjugated ubiquitin from target proteins. UniProt annotations indicate it regulates cell proliferation, cell cycle progression, apoptosis, cell migration, and viral response through protein deubiquitination in the cytosol and nucleus. A genome-scale CRISPR/Cas9 screening study identified USP17L20 as a candidate gene involved in cisplatin resistance in ovarian cancer 1, though further validation was not completed.
1
USP17L20 was identified as a candidate gene in cisplatin resistance through CRISPR/Cas9 screening in ovarian cancer cell lines
PMID: 31218106β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
immunodeficiency 19Open Targets
combined immunodeficiency with skin granulomasOpen Targets
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaOpen Targets
immunodeficiency 15aOpen Targets
ring chromosome YOpen Targets
X-Linked Combined Immunodeficiency DiseasesOpen Targets
severe combined immunodeficiency due to LAT deficiencyOpen Targets
obesity due to congenital leptin deficiencyOpen Targets
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
immunodeficiency 105Open Targets
Alymphoid cystic thymic dysgenesisOpen Targets
obesity due to leptin receptor gene deficiencyOpen Targets
immunodeficiency 112Open Targets
common variable immunodeficiencyOpen Targets
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
spermatogenic failure 84Open Targets
spermatogenic failure 93Open Targets
spermatogenic failure 65Open Targets
immunodeficiency 18Open Targets
immunodeficiency 76Open Targets
No pathogenic variants reported on ClinVar for this gene.
No tissue expression data available for this gene.