ATP6V1G2: V-ATPase Subunit G2
A component of the vacuolar ATPase complex involved in acidification and linked to immune-related disorders
Gene Information Card
| Symbol | ATP6V1G2 |
|---|---|
| Full Name | ATPase H+ Transporting V1 Subunit G2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 534 ncbi.nlm.nih.gov/gene/534 |
| Ensembl ID | ENSG00000213760 |
| UniProt ID | O95670 |
| OMIM ID | 606853 |
| HGNC ID | 864 |
| Aliases | VMA10, ATP6G, ATP6G2, V-ATPase G2 subunit |
Description
ATP6V1G2 encodes a subunit of the vacuolar ATPase (V-ATPase) complex, which mediates acidification of intracellular organelles. The G2 subunit is part of the V1 domain and is involved in ATP hydrolysis. This gene is located in the MHC class II region and has been implicated in immune regulation and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune thyroid disease | Altered V-ATPase function may affect antigen presentation and immune tolerance | PMID: 20628086 |
| Rheumatoid arthritis | Polymorphisms in ATP6V1G2 associated with susceptibility | PMID: 22446963 |
| Systemic lupus erythematosus | Dysregulated acidification linked to autoimmunity | PMID: 25658027 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.1 | Medium expression |
| K562 | 7.4 | Medium expression |
| HepG2 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236C>T (p.Pro79Leu) | Missense | <0.01% | Unknown functional impact |
| c.389G>A (p.Arg130Gln) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants may impair V-ATPase assembly or activity, reducing organelle acidification.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP hydrolysis coupled proton transport (GO:0015991) | • vacuolar proton-transporting V-type ATPase (GO:0000220) |
| • ATP binding (GO:0005524) | • proton-transporting ATPase activity (GO:0046961) |
Pathways
• REACTOME: Proton-coupled ATP hydrolysis (R-HSA-5250913)
• KEGG: Oxidative phosphorylation (hsa00190)
• KEGG: Collecting duct acid secretion (hsa04966)
Protein Summary
ATP6V1G2 encodes the G2 subunit of the V1 domain of vacuolar ATPase. This protein is essential for proton transport across membranes, contributing to organelle acidification. It is expressed in multiple tissues and is particularly relevant in immune cells where acidification is critical for antigen processing. Mutations are rare but may contribute to autoimmune susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP6V1G2 Knockout HEK293 Cell Line | EDJ-KQ50145 | Human | 534 | Details Get a Quote |
| ATP6V1G2 Knockout HeLa Cell Line | EDJ-KQ52695 | Human | 534 | Details Get a Quote |
| ATP6V1G2 Knockout A-549 Cell Line | EDJ-KQ61166 | Human | 534 | Details Get a Quote |
| ATP6V1G2 Knockout HCT 116 Cell Line | EDJ-KQ69654 | Human | 534 | Details Get a Quote |
