1 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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5PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ubiquitin-like ligase-substrate adaptor activityproteasome-mediated ubiquitin-dependent protein catabolic processcytoplasmCul2-RING ubiquitin ligase complexazoospermiapartial chromosome Y deletionspermatogenic failure 57spermatogenic failure 50
Based on limited published evidence, PRAMEF15 is a PRAME family member involved in protein degradation pathways. Structural annotations indicate it functions as a ubiquitin-like ligase-substrate adaptor within the Cul2-RING ubiquitin ligase complex, localizing to the cytoplasm where it participates in proteasome-mediated ubiquitin-dependent protein catabolism. In colorectal cancer genetics, PRAMEF15 mutations co-occur with TP53 mutations in primary tumors that develop metachronous liver metastases, suggesting potential involvement in cancer progression pathways 1.
1
PRAMEF15 mutations identified as co-occurring with TP53 mutations in primary colorectal tumors with metachronous metastases, implicating involvement in distinct tumor progression pathways
PMID: 40884237⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
partial chromosome Y deletionOpen Targets
spermatogenic failure 57Open Targets
spermatogenic failure 50Open Targets
spermatogenic failure 25Open Targets
spermatogenic failure, X-linked, 2Open Targets
spermatogenic failure 71Open Targets
spermatogenic failure 63Open Targets
isochromosomy YpOpen Targets
spermatogenic failure 61Open Targets
spermatogenic failure 62Open Targets
spermatogenic failure 88Open Targets
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
spermatogenic failure 59Open Targets
spermatogenic failure 60Open Targets
spermatogenic failure 73Open Targets
spermatogenic failure 74Open Targets
spermatogenic failure 48Open Targets
isochromosomy YqOpen Targets
spermatogenic failure 84Open Targets
No pathogenic variants reported on ClinVar for this gene.