ATP6V1G2 Gene Summary [Human]

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011]

Details

Type
Protein Coding
Official Symbol
ATP6V1G2
Official Name
ATPase H+ transporting V1 subunit G2 [Source:HGNC Symbol;Acc:HGNC:862]
Ensembl ID
ENSG00000206445
Bio databases IDs NCBI: 534 Ensembl: ENSG00000206445
Aliases ATPase H+ transporting V1 subunit G2
Synonyms 1500002D01Rik, ATP6G, ATP6G2, ATPase, H+ transporting, lysosomal V1 subunit G2, ATPase H+ transporting V1 subunit G2, NG38, VAG2, V-ATPase G2, V-ATPase V1-G2, VMA10
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 ATP6V1G2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Vacuolar (H+)-ATPase G subunit
  • vacuolar ATP synthase, subunit G
  • H+-transporting two-sector ATPase
  • hydrogen-transporting ATPase activity, rotational mechanism
  • protein binding
  • H+-exporting ATPase
  • ATPase
  • transporter

Pathways

Biological processes and signaling networks where the ATP6V1G2 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.
regulates
  • H+
regulated by
disease
  • insulin-dependent diabetes mellitus
  • Alzheimer disease
  • inguinal hernia
  • glioblastoma
  • glioblastoma cancer
  • osteoarthritis
  • myositis
role in cell
  • apoptosis
  • growth
  • acidification in
  • necroptosis

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
  • synaptic vesicle membrane
  • cellular membrane
  • vesicles
  • cytosol
  • synaptic vesicles
  • perikaryon
  • axons
  • dendrites
  • synaptic vesicle fractions

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ATP6V1G2 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
  • vacuolar proton-transporting V-type ATPase, V1 domain
  • melanosome
  • cytosol
  • synaptic vesicle membrane
  • clathrin coated vesicle membrane

Molecular Function

What the gene product does at the molecular level
  • ATPase activity
  • 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.