ATP8B2
Overview
ATP8B2 (ATPase Phospholipid Transporting 8B2) encodes a P4-type ATPase involved in phospholipid flipping. It was identified as a significantly mutated gene in African American colorectal cancers, suggesting a potential role as an ethnicity-associated driver in CRC.
Alterations observed in the corpus
- Identified as a significantly mutated gene in African American colorectal cancers in both discovery and validation cohorts (103 AA vs. 129 Caucasian CRC samples); part of the 20-gene panel preferentially mutated in AA CRCs PMID:25583493
Cancer types (linked)
- Colorectal cancer: identified in a significantly mutated gene panel enriched in African American CRC patients PMID:25583493
Co-occurrence and mutual exclusivity
Therapeutic relevance
Open questions
- Functional significance of ATP8B2 mutations in AA CRC has not been experimentally validated PMID:25583493
Sources
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