ATP6V1B2

V-type proton ATPase subunit B, brain isoform is an enzyme that in humans is encoded by the ATP6V1B2 gene.^[5][6][7]

AliasesATP6V1B2, ATP6B1B2, ATP6B2, HO57, VATB, VPP3, Vma2, ATPase H+ transporting V1 subunit B2, DOOD, ZLS2

External IDsOMIM: 606939; MGI: 109618; HomoloGene: 1279; GeneCards: ATP6V1B2; OMA:ATP6V1B2 - orthologs

Chr.Chromosome 8 (human)^[1]

End20,226,819 bp^[1]

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ATP6V1B2
Identifiers
Aliases	ATP6V1B2, ATP6B1B2, ATP6B2, HO57, VATB, VPP3, Vma2, ATPase H+ transporting V1 subunit B2, DOOD, ZLS2
External IDs	OMIM: 606939; MGI: 109618; HomoloGene: 1279; GeneCards: ATP6V1B2; OMA:ATP6V1B2 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p21.3 Start 20,197,381 bp[1] End 20,226,819 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 B3.3 Start 69,541,298 bp[2] End 69,566,363 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pons monocyte lateral nuclear group of thalamus prefrontal cortex Brodmann area 10 orbitofrontal cortex frontal pole pars compacta dorsolateral prefrontal cortex superior vestibular nucleus Top expressed in pontine nuclei perirhinal cortex central gray substance of midbrain entorhinal cortex cingulate gyrus CA3 field medial vestibular nucleus inferior colliculi primary motor cortex medial dorsal nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function proton-transporting ATPase activity, rotational mechanism protein binding proton transmembrane transporter activity hydrolase activity ATP binding Cellular component cytoplasm integral component of membrane proton-transporting V-type ATPase, V1 domain cytosol intracellular membrane-bounded organelle membrane melanosome ruffle myelin sheath plasma membrane microvillus lysosomal membrane extracellular exosome endomembrane system apical plasma membrane Biological process insulin receptor signaling pathway transferrin transport ion transport ion transmembrane transport ATP metabolic process regulation of macroautophagy phagosome acidification transport proton transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 526 11966 Ensembl ENSG00000147416 ENSMUSG00000006273 UniProt P21281 P62814 RefSeq (mRNA) NM_001693 NM_007509 RefSeq (protein) NP_001684 NP_031535 Location (UCSC) Chr 8: 20.2 – 20.23 Mb Chr 8: 69.54 – 69.57 Mb PubMed search [3] [4]
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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.^[7]

In melanocytic cells ATP6V1B2 gene expression may be regulated by MITF.^[8]