ATP6V0E2: V-type proton ATPase subunit e 2
A component of the vacuolar ATPase complex involved in acidification of intracellular organelles.
Gene Information Card
| Symbol | ATP6V0E2 |
|---|---|
| Full Name | ATPase H+ transporting V0 subunit e2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 155066 ncbi.nlm.nih.gov/gene/155066 |
| Ensembl ID | ENSG00000146707 |
| UniProt ID | Q96QE3 |
| OMIM ID | 617073 |
| HGNC ID | 28298 |
| Aliases | ATP6V0E2L, VMA21, V-type proton ATPase subunit e 2 |
Description
ATP6V0E2 encodes a subunit of the vacuolar ATPase (V-ATPase), a multi-subunit enzyme that mediates acidification of intracellular compartments such as lysosomes, endosomes, and secretory vesicles. The V0 subunit e2 is part of the membrane-bound V0 domain responsible for proton translocation. This gene is essential for proper organelle acidification and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive cutis laxa type 2C (ARCL2C) | Loss-of-function mutations in ATP6V0E2 impair V-ATPase assembly and lysosomal acidification, leading to defective collagen processing and elastin homeostasis. | ClinVar, OMIM |
| Neurodevelopmental disorder with microcephaly and seizures | Disrupted V-ATPase function affects neuronal vesicle trafficking and pH regulation, contributing to brain development abnormalities. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Low |
| Heart | 8.3 | Low |
| Liver | 15.1 | Low |
| Kidney | 20.4 | Medium |
| Lung | 10.2 | Low |
| Testis | 25.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.3 | Embryonic kidney cells |
| HeLa | 14.7 | Cervical cancer cells |
| K562 | 9.8 | Leukemia cells |
| HepG2 | 21.2 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.200_201del (p.Glu67fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to impaired V-ATPase assembly and reduced 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) | • integral component of membrane (GO:0016021) |
| • lysosome (GO:0005764) | • lysosomal membrane (GO:0005765) |
| • proton-transporting V-type ATPase (GO:0033179) |
Pathways
• V-ATPase-mediated acidification (Reactome: R-HSA-1222556)
• Lysosome (KEGG: hsa04142)
Protein Summary
ATP6V0E2 encodes the V0 subunit e2 of the vacuolar ATPase, a 9.5 kDa integral membrane protein that spans the lysosomal membrane. It is essential for proton translocation and organelle acidification. Loss-of-function mutations cause autosomal recessive cutis laxa type 2C and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP6V0E2 Knockout HEK293 Cell Line | EDJ-KQ12481 | Human | 155066 | Details Get a Quote |
| ATP6V0E2 Knockout A-549 Cell Line | EDJ-KQ41435 | Human | 155066 | Details Get a Quote |
| ATP6V0E2 Knockout HCT 116 Cell Line | EDJ-KQ41436 | Human | 155066 | Details Get a Quote |
| ATP6V0E2 Knockout HeLa Cell Line | EDJ-KQ41437 | Human | 155066 | Details Get a Quote |
