Aliases for ATP6V1G2 Gene
- ATPase H+ Transporting V1 Subunit G2 2 3 5
- NG38 2 3 4
- ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 2 3
- ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G2 2 3
- V-Type Proton ATPase Subunit G 2 3 4
- V-ATPase 13 KDa Subunit 2 3 4
- ATP6G2 3 4
- ATP6G 3 4
- ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G Isoform 2 2
External Ids for ATP6V1G2 Gene
Previous HGNC Symbols for ATP6V1G2 Gene
Previous GeneCards Identifiers for ATP6V1G2 Gene
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]
GeneCards Summary for ATP6V1G2 Gene
ATP6V1G2 (ATPase H+ Transporting V1 Subunit G2) is a Protein Coding gene. Diseases associated with ATP6V1G2 include Autosomal Recessive Distal Renal Tubular Acidosis and Sorsby Fundus Dystrophy. Among its related pathways are Insulin receptor recycling and Rheumatoid arthritis. Gene Ontology (GO) annotations related to this gene include ATPase activity and proton-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1G1.
UniProtKB/Swiss-Prot Summary for ATP6V1G2 Gene
Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.