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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ATP6V1G2
ATPase H+ transporting V1 subunit G2
Chromosome 6 · 6p21.33
NCBI Gene: 534Ensembl: ENSG00000206445.4HGNC: HGNC:862UniProt: O95670
40PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsynaptic vesicle lumen acidificationvacuolar proton-transporting V-type ATPase, V1 domainsynaptic vesicle membrane
✦AI Summary

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.

Sources cited
1
ATP6V1G2 is downregulated in Alzheimer's disease and acts as a protective factor
PMID: 40021385
2
ATP6V1G2 facilitates CCR2 recycling through CD14/TLR4/NF-κB pathway for macrophage recruitment
PMID: 40050288
3
vha-10 (ATP6V1G2 ortholog) knockdown impairs memory function in C. elegans
PMID: 38692279
4
ATP6V1G2 serves as a prognostic biomarker in glioma with low expression indicating poor prognosis
PMID: 35896732
5
ATP6V1G2 is part of V-ATPase five-gene signature for glioma classification and prognosis
PMID: 35266851
6
ATP6V1G2 polymorphisms associate with doxorubicin-induced cardiotoxicity susceptibility
PMID: 28256194
7
ATP6V1G2 variants contribute to celiac disease pathogenesis through energy metabolism
PMID: 34168104
8
ATP6V1G2 represents a ferroptosis-related biomarker in Parkinson's disease
PMID: 36187920
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATP6V1HProtein interaction100%ATP6V1FProtein interaction100%ATP6V0D1Protein interaction100%ATP6V1C1Protein interaction100%ATP6V0A4Protein interaction100%ATP6V1AProtein interaction100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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ATP6V1G2ATP6V1HATP6V1FATP6V0D1ATP6V1C1ATP6V0A4ATP6V1A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O95670
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.48–1.15]
RankingsWhere ATP6V1G2 stands among ~20K protein-coding genes
  • #10,134of 20,598
    Most Researched40
  • #11,999of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedATP6V1G2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative single-cell RNA sequencing and mendelian randomization analysis reveal the potential role of synaptic vesicle cycling-related genes in Alzheimer's disease.
PMID: 40021385
J Prev Alzheimers Dis · 2025
1.00
2
Host FSTL1 defines the impact of stem cell therapy on liver fibrosis by potentiating the early recruitment of inflammatory macrophages.
PMID: 40050288
Signal Transduct Target Ther · 2025
0.90
3
Polymorphic Variations Associated With Doxorubicin-Induced Cardiotoxicity in Breast Cancer Patients.
PMID: 28256194
Oncol Res · 2017
0.80
4
A systems biology-based identification and in vivo functional screening of Alzheimer's disease risk genes reveal modulators of memory function.
PMID: 38692279
Neuron · 2024
0.70
5
Remarkable immune and clinical value of novel ferroptosis-related genes in glioma.
PMID: 35896732
Sci Rep · 2022
0.60