ATP6V1E2 Gene Summary [Human]

Predicted to enable P-type proton-exporting transporter activity. Predicted to act upstream of or within proton transmembrane transport. Predicted to be located in cytosol. Predicted to be part of proton-transporting two-sector ATPase complex, catalytic domain. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Processed Transcript
Official Symbol
ATP6V1E2
Official Name
ATPase H+ transporting V1 subunit E2 [Source:HGNC Symbol;Acc:HGNC:18125]
Ensembl ID
ENSG00000250565
Bio databases IDs NCBI: 90423 Ensembl: ENSG00000250565
Aliases ATPase H+ transporting V1 subunit E2, V-ATPase subunit E2
Synonyms 4930500C14Rik, ATP6E1, ATP6EL2, ATP6V1EL2, ATPase, H+ transporting, lysosomal V1 subunit E2, ATPase H+ transporting V1 subunit E2, E1, LOC102725172, LOC440862, V Atpase E1, V-ATPase E2, VMA4
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATP6V1E2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • hydrogen-transporting ATPase activity, rotational mechanism
  • protein binding
  • ATP synthase (E/31 kDa) subunit
  • transporter

Pathways

Biological processes and signaling networks where the ATP6V1E2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • androgenic alopecia
  • tuberculosis
  • abdominal aortic aneurysm
regulated by
regulates

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytosol
  • acrosome

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ATP6V1E2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of macroautophagy

Cellular Component

Where in the cell the gene product is active
  • acrosomal vesicle
  • cytosol
  • proton-transporting two-sector ATPase complex, catalytic domain

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • proton-transporting ATPase activity, rotational mechanism

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.