Gene: ATP6V1B2

Alternate names for this Gene: ATP6B1B2|ATP6B2|DOOD|HO57|VATB|VPP3|Vma2|ZLS2

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8p21.3

Description of this Gene: ATPase H+ transporting V1 subunit B2

Type of Gene: protein-coding

rs1106634 in ATP6V1B2 gene and Major Depressive Disorder PMID 20038947 2011 Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.

rs1390943 in ATP6V1B2 gene and Myeloperoxidase Measurement PMID 23620142 2013 Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.