ATP6V1B2
Function
Non-catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091). In renal intercalated cells, can partially compensate the lack of ATP6V1B1 and mediate secretion of protons (H+) into the urine under base-line conditions but not in conditions of acid load (By similarity).
Involvement in disease
Zimmermann-Laband syndrome 2
ZLS2
A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS2 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Deafness, congenital, with onychodystrophy, autosomal dominant
DDOD
An autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth, selective tooth agenesis, and hands and feet abnormalities are present in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ATPase alpha/beta chains family.
Tissue Specificity
Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level).
Cellular localization
- Apical cell membrane
- Melanosome
- Cytoplasm
- Cytoplasmic vesicle
- Secretory vesicle
- Synaptic vesicle membrane
- Peripheral membrane protein
- Cytoplasmic vesicle
- Clathrin-coated vesicle membrane
- Peripheral membrane protein
- Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Alternative names
ATP6B2, VPP3, ATP6V1B2, V-ATPase subunit B 2, Endomembrane proton pump 58 kDa subunit, HO57, Vacuolar proton pump subunit B 2