ATP6V1B2 gene

ATPase H+ transporting V1 subunit B2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Zimmermann-Laband syndrome 2
  • Deafness, congenital, with onychodystrophy, autosomal dominant

From UniProt:

Zimmermann-Laband syndrome 2 (ZLS2): A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears. [MIM:616455]

Cytogenetic Location: 8p21.3, which is the short (p) arm of chromosome 8 at position 21.3

Molecular Location: base pairs 20,197,193 to 20,226,852 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8p21.3, which is the short (p) arm of chromosome 8 at position 21.3
  • ATP6B1B2
  • ATP6B2
  • DOOD
  • HO57
  • VATB
  • Vma2
  • VPP3
  • ZLS2