ATP6V1B2

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)
End	20,226,819 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	69,566,363 bp
RNA expression pattern
	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
	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
	526
	11966
	ENSG00000147416
	ENSMUSG00000006273
	P21281
	P62814
	NM_001693
	NM_007509
	NP_001684
	NP_031535
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000147416 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000006273 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Bernasconi P, Rausch T, Struve I, Morgan L, Taiz L (Nov 1990). "An mRNA from human brain encodes an isoform of the B subunit of the vacuolar H(+)-ATPase". J Biol Chem. 265 (29): 17428–31. doi:10.1016/S0021-9258(18)38179-1. PMID 2145275.
^ Smith AN, Lovering RC, Futai M, Takeda J, Brown D, Karet FE (Oct 2003). "Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes". Mol Cell. 12 (4): 801–3. doi:10.1016/S1097-2765(03)00397-6. PMID 14580332.
^ ^a ^b "Entrez Gene: ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2".
^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000147416 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000006273 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2145275-5] Bernasconi P, Rausch T, Struve I, Morgan L, Taiz L (Nov 1990). "An mRNA from human brain encodes an isoform of the B subunit of the vacuolar H(+)-ATPase". J Biol Chem. 265 (29): 17428–31. doi:10.1016/S0021-9258(18)38179-1. PMID 2145275.

[pmid14580332-6] Smith AN, Lovering RC, Futai M, Takeda J, Brown D, Karet FE (Oct 2003). "Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes". Mol Cell. 12 (4): 801–3. doi:10.1016/S1097-2765(03)00397-6. PMID 14580332.

[entrez-7] "Entrez Gene: ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2".

[pmid19067971-8] Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]