ATP6V1E2 Gene - V-type proton ATPase subunit E 2
Comprehensive genomic and functional analysis of ATP6V1E2, a component of the vacuolar ATPase complex involved in cellular pH homeostasis.
Gene Information Card
| Symbol | ATP6V1E2 |
|---|---|
| Full Name | ATPase H+ transporting V1 subunit E2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 90423 ncbi.nlm.nih.gov/gene/90423 |
| Ensembl ID | ENSG00000162931 |
| UniProt ID | Q96LB4 |
| OMIM ID | 613511 |
| HGNC ID | 18282 |
| Aliases | ATP6E2, VMA4, ATP6V1E2 |
Description
ATP6V1E2 encodes a component of the vacuolar ATPase (V-ATPase) complex, which mediates acidification of intracellular organelles. The V1 domain consists of multiple subunits including E2, which is involved in ATP hydrolysis. This gene is ubiquitously expressed and plays a role in pH homeostasis, protein degradation, and cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal tubular acidosis | Impaired V-ATPase function leads to defective acid secretion in renal tubules | Limited evidence; associated with V-ATPase subunit mutations in general |
| Cancer (various) | Altered V-ATPase activity may promote tumor microenvironment acidification and metastasis | COSMIC database reports somatic mutations in multiple cancer types |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 15.2 | Medium |
| Liver | 8.3 | Low |
| Heart | 10.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cells |
| K562 | 9.8 | Leukemia cell line |
| A549 | 13.2 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Unknown functional impact |
| c.245C>T | nonsense | 0.005% | Predicted loss of function |
| c.367G>A | missense | 0.02% | May affect subunit assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations likely lead to truncated protein and loss of V-ATPase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in conserved regions may disrupt complex assembly and exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • ATP hydrolysis coupled proton transport (GO:0015991) |
| • proton-transporting V-type ATPase (GO:0033179) | • proton-transporting ATPase activity (GO:0046961) |
Pathways
• Vacuolar ATPase complex assembly (Reactome: R-HSA-525091)
• Ion transport by P-type ATPases (Reactome: R-HSA-983712)
Protein Summary
The ATP6V1E2 protein is a 226-amino acid subunit of the V1 domain of vacuolar ATPase. It is essential for ATP hydrolysis and proton translocation across membranes. The protein is localized to intracellular vesicles and plasma membrane in specialized cells. Its structure includes a conserved ATP-binding domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP6V1E2 Knockout HEK293 Cell Line | EDJ-KQ1145 | Human | 90423 | Details Get a Quote |
| ATP6V1E2 Knockout HCT 116 Cell Line | EDJ-KQ19023 | Human | 90423 | Details Get a Quote |
| ATP6V1E2 Knockout A-549 Cell Line | EDJ-KQ20366 | Human | 90423 | Details Get a Quote |
| ATP6V1E2 Knockout HeLa Cell Line | EDJ-KQ20368 | Human | 90423 | Details Get a Quote |
