ATPase H+ transporting V1 subunit B2
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedZimmermann-Laband syndrome 2
Autosomal dominant deafness-onychodystrophy syndrome
Zimmermann-Laband syndrome
autosomal dominant deafness - onychodystrophy syndrome
neurodegenerative disease
deafness-onychodystrophy syndrome
Alzheimer disease
Parkinson disease
lysosomal storage disease
multiple sclerosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
V-type proton ATPase subunit B, brain isoform
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 promotes acidification of the extracellular environment (PubMed:32001091). The V-ATPase complex also acts as an activator for mTORC1 on lysosomal membrane by promoting the guanine nucleotide exchange factor (GEF) of the Ragulator complex, thereby enabling mTORC1 recruitment (PubMed:22053050). 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)
ATP6V1B2 · P21281
Mean pLDDT
86.0/ 100
Confident
511 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
