Aliases for ATP6V1B2 Gene
External Ids for ATP6V1B2 Gene
Previous HGNC Symbols for ATP6V1B2 Gene
Previous GeneCards Identifiers for ATP6V1B2 Gene
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle 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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATP6V1B2 Gene
ATP6V1B2 (ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B2) is a Protein Coding gene. Diseases associated with ATP6V1B2 include zimmermann-laband syndrome and zimmermann-laband syndrome 2. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances. An important paralog of this gene is ATP6V1B1.
UniProtKB/Swiss-Prot for ATP6V1B2 Gene
Non-catalytic subunit of the peripheral V1 complex of vacuolar 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.