ATP6V1G2 encodes a subunit of the V1 complex of vacuolar H+-ATPase (V-ATPase), which functions in proton transport and pH regulation across cellular membranes 1. The protein participates in synaptic vesicle cycling and acidification, playing a critical role in neuronal communication 23. ATP6V1G2 acts as a protective factor against Alzheimer's disease, with downregulated expression associated with increased disease risk 2. Mechanistically, the gene facilitates CCR2 receptor recycling through the CD14/TLR4/NF-κB/ATP6V1G2 axis, promoting inflammatory macrophage recruitment 1. In C. elegans models, neuronal knockdown of the ATP6V1G2 ortholog vha-10 impairs short- and intermediate-term memory function, suggesting evolutionary conservation of its role in memory processes 3. The gene shows clinical significance across multiple diseases: it serves as a prognostic biomarker in glioma with low expression correlating with poor outcomes 45, associates with doxorubicin-induced cardiotoxicity susceptibility 6, contributes to celiac disease pathogenesis 7, and represents a ferroptosis-related biomarker in Parkinson's disease 8. These findings highlight ATP6V1G2's multifaceted roles in cellular energy metabolism, neurodegeneration, and immune regulation.
No tissue expression data available for this gene.