ATP6V1B2

Chr 8

ATPase H+ transporting V1 subunit B2

Also known as: ATP6B1B2, ATP6B2, DOOD, HO57, VATB, VPP3, Vma2, ZLS2

NCBI Gene: 526 ENSG00000147416 UniProt: P21281

ATP6V1B2 encodes a non-catalytic subunit of the V1 complex of vacuolar H+-ATPase, which acidifies intracellular compartments and, in some cells, the extracellular environment. Autosomal dominant mutations cause congenital deafness with onychodystrophy and Zimmermann-Laband syndrome 2. The gene is highly constrained against loss-of-function variants (pLI = 0.99), indicating that such variants are likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtZimmermann-Laband syndrome 2

UniProtDeafness, congenital, with onychodystrophy, autosomal dominant

Clinical highlights

Interpreting a novel variant

A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.29

LOEUF· LoF intol.

DN*

Mechanism· G2P

Some data sources returned errors (1)

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