Affinage

ATP6V1B2

V-type proton ATPase subunit B, brain isoform · UniProt P21281

Round 2 corrected
Length
511 aa
Mass
56.5 kDa
Annotated
2026-04-28
54 papers in source corpus 14 papers cited in narrative 14 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ATP6V1B2 encodes the brain-enriched B2 subunit of the V1 catalytic domain of the vacuolar H⁺-ATPase (V-ATPase), where it participates in non-catalytic nucleotide binding, ATP hydrolysis-driven proton pumping, and V1–V0 subcomplex assembly required for lysosomal acidification and autophagic degradation (PMID:2844751, PMID:25038082, PMID:39757940). Starvation-induced phosphorylation of ATP6V1B2 at Y68 by ABL1 promotes V1D subunit recruitment and V1–V0 assembly, enhancing lysosomal acidification and autophagy/mitophagy, whereas l-lactate-driven lactylation at K108/K109 restricts B2 conformational flexibility, causing V-ATPase disassembly, lysosomal alkalinization, and pyroptosis (PMID:39757940, PMID:41637881). Loss-of-function mutations (e.g. p.Arg506*) weaken the V1E–B2 subunit interaction, producing lysosomal dysfunction, neurodegeneration, progressive hearing loss, and seizure susceptibility, while gain-of-function variants constitutively upregulate V-ATPase activity, causing excess lysosomal acidification, defective autophagic flux, impaired ciliogenesis, and—in follicular lymphoma—autophagy-dependent survival with sustained mTOR activation (PMID:31257146, PMID:34746137, PMID:39210597, PMID:30720463). Heterozygous de novo ATP6V1B2 mutations cause Zimmermann-Laband syndrome and related neurodevelopmental disorders with hearing loss and epilepsy (PMID:25915598, PMID:37628590).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1988 Medium

    Identification of the V-ATPase B subunit as a soluble, non-membrane-spanning polypeptide homologous to F₁F₀-ATPase α/β subunits established that V-ATPase B functions in non-catalytic nucleotide binding rather than as a membrane pore component.

    Evidence Gene isolation, sequencing, and sequence comparison of Neurospora crassa vma-2 (B subunit ortholog)

    PMID:2844751

    Open questions at the time
    • Catalytic versus regulatory nucleotide-binding roles of B versus A subunits not yet resolved in mammalian V-ATPase
    • No structural data for the B subunit at this time
  2. 2014 High

    Demonstration that the V1B subunit is required for V-ATPase membrane assembly, proton transport, and ATPase activity established its essential role in vacuolar acidification and downstream processes including autophagy and stress resistance.

    Evidence Regulatable VMA2 mutant in C. albicans with proton transport and ATPase activity assays, vacuolar morphology, and nitrogen-starvation autophagy

    PMID:25038082

    Open questions at the time
    • Findings in fungal ortholog; mammalian-specific regulatory mechanisms unexplored
    • No post-translational regulatory input identified
  3. 2015 Medium

    Discovery that recurrent de novo ATP6V1B2 missense mutations cause Zimmermann-Laband syndrome linked human disease to predicted disruption of V-ATPase complex assembly.

    Evidence Exome sequencing of ZLS patients with structural modeling of variant impact on V-ATPase

    PMID:25915598

    Open questions at the time
    • Structural prediction only; functional consequence of the ZLS variant on V-ATPase activity not directly measured
    • Gain- versus loss-of-function not resolved
  4. 2019 High

    Two independent studies distinguished loss-of-function from gain-of-function mechanisms: the p.Arg506* variant weakens V1E–B2 interaction causing lysosomal dysfunction and cognitive impairment, while follicular lymphoma hotspot mutations constitutively activate autophagic flux and sustain mTOR, creating autophagy dependence.

    Evidence Knockin mice (Arg506*) with co-IP showing weakened V1E–B2 interaction, behavioral/fMRI readouts; engineered lymphoma lines and primary FL B cells with autophagy inhibition and leucine-starvation assays, yeast complementation

    PMID:30720463 PMID:31257146

    Open questions at the time
    • Structural basis for how specific variants produce opposite functional outcomes unknown
    • Whether mTOR activation is a direct consequence of enhanced V-ATPase activity or an indirect effect of altered amino acid sensing not resolved
  5. 2021 High

    The p.Arg506* variant was shown to cause progressive hearing loss through lysosomal dysfunction and autophagic flux blockade leading to spiral ganglion neuron apoptosis, while compensatory Atp6v1b1 upregulation in hair cells explained milder cochlear phenotypes.

    Evidence Knockin mouse ABR/DPOAE, immunostaining, RNAscope for Atp6v1b1, and BIP-V5 apoptosis inhibitor rescue

    PMID:34746137

    Open questions at the time
    • Whether B1 compensation occurs in human cochlear hair cells not tested
    • Long-term therapeutic window for apoptosis inhibition not defined
  6. 2023 Medium

    Heterozygous Arg506* knockin mice displayed seizure susceptibility and epileptic EEG activity, confirming that partial ATP6V1B2 loss of function is sufficient to cause neuronal hyperexcitability in vivo.

    Evidence EEG recording and pentylenetetrazol seizure threshold assay in heterozygous knockin mice

    PMID:37628590

    Open questions at the time
    • Cellular mechanism connecting lysosomal dysfunction to neuronal hyperexcitability not dissected
    • Single mutation tested; generalizability to other LOF variants unknown
  7. 2024 High

    Gain-of-function ATP6V1B2 variants were shown to hyperacidify lysosomes, disrupt lysosomal morphology, block autophagic flux, and impair ciliogenesis, classifying these disorders as lysosomal diseases caused by V-ATPase overactivity, and Drosophila Vha55 knockdown independently confirmed that B2 loss causes seizure-like behavior.

    Evidence Functional cell biology assays for lysosomal acidification, autophagy flux, and cilia biogenesis with multiple GOF variants; Drosophila Vha55 knockdown behavioral assays

    PMID:39075926 PMID:39210597

    Open questions at the time
    • Mechanism by which excess acidification impairs ciliogenesis not resolved
    • Whether GOF and LOF variants converge on a shared downstream pathogenic pathway unclear
  8. 2025 High

    ABL1 was identified as a direct kinase for ATP6V1B2 Y68 phosphorylation under starvation, providing the first post-translational regulatory switch that promotes V1D recruitment, V1–V0 assembly, and enhanced lysosomal acidification to support autophagy and mitophagy.

    Evidence Co-IP, in vitro phosphorylation, Y68 mutagenesis, proximity ligation assay, lysosomal pH and hydrolase assays, autophagy/mitophagy flux in ABL1-inhibited/knockdown cells

    PMID:39757940

    Open questions at the time
    • Whether Y68 phosphorylation is relevant to disease-associated variants not tested
    • Phosphatase that reverses Y68 phosphorylation not identified
  9. 2025 High

    AAV-mediated gene replacement of Atp6v1b2 in hair cell-specific knockout mice rescued lysosomal morphology, auditory function, and vestibular function for ≥24 weeks, establishing therapeutic proof-of-concept for ATP6V1B2-related hearing loss.

    Evidence Conditional KO mice (Atp6v1b2fl/fl;Atoh1Cre/+) with AAV-ie-Eh3 delivery into scala media, ABR, vestibular function, lysosomal imaging

    PMID:40068100

    Open questions at the time
    • Whether gene therapy can rescue spiral ganglion neuron degeneration (not only hair cells) untested
    • Durability beyond 24 weeks and translational dosing not defined
  10. 2026 High

    l-Lactate-driven lactylation of ATP6V1B2 at K108/K109 was identified as a second post-translational switch that restricts B2 flexibility, disassembles V1–V0, and triggers lysosomal alkalinization, membrane permeabilization, and GSDME-dependent pyroptosis, with in vivo relevance demonstrated by AAV-delivered lactylation-deficient mutant rescue in an asthma model.

    Evidence Quantitative lactylomics, molecular dynamics, V-ATPase assembly and lysosomal pH assays, LMP, primary human bronchial epithelial cells, HDM asthma model with AAV-K108R/K109R mutant

    PMID:41637881

    Open questions at the time
    • Whether lactylation and Y68 phosphorylation are coordinated or antagonistic not examined
    • Generalizability of lactylation-driven pyroptosis beyond airway epithelium unknown
  11. 2026 Medium

    ATP6V1B2 loss in hepatocytes impairs lysosomal acidification and autophagic degradation of FASN, leading to lipid accumulation, oxidative stress, and steatosis, extending the metabolic consequences of B2 deficiency beyond the nervous system.

    Evidence siRNA knockdown in liver cells with lysosomal pH, autophagic flux, FASN protein, lipid accumulation, and oxidative stress assays

    PMID:41876447

    Open questions at the time
    • In vivo hepatic phenotype not confirmed in animal model
    • Whether FASN is a selective substrate or one of many proteins accumulating due to general lysosomal impairment not clarified

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key open questions include: (1) atomic-resolution structure of disease variants within the assembled V-ATPase explaining gain- versus loss-of-function outcomes; (2) integration of ABL1-mediated Y68 phosphorylation and K108/K109 lactylation into a unified regulatory model; (3) whether cell-surface ATP6V1B2 in senescent cells has a non-canonical function beyond organellar proton pumping.
  • No high-resolution cryo-EM structure of disease-variant V-ATPase reported
  • Cross-talk between phosphorylation and lactylation at B2 not studied
  • Cell-surface ATP6V1B2 phenotype reported only in a preprint without mechanistic dissection

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140657 ATP-dependent activity 4 GO:0005215 transporter activity 3 GO:0016787 hydrolase activity 2
Localization
GO:0005764 lysosome 6 GO:0005773 vacuole 1
Pathway
R-HSA-9612973 Autophagy 5 R-HSA-1643685 Disease 4 R-HSA-1852241 Organelle biogenesis and maintenance 3 R-HSA-382551 Transport of small molecules 3 R-HSA-5357801 Programmed Cell Death 2
Partners
ABL1ATP6V1C1ATP6V1DATP6V1E1
Complex memberships
V-ATPase (V1 domain)V-ATPase (V1-V0 holoenzyme)

Evidence

Reading pass · 14 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2015 A recurrent de novo heterozygous missense mutation in ATP6V1B2 (encoding the B2 subunit of the vacuolar H+ ATPase) causes Zimmermann-Laband syndrome (ZLS). Structural analysis predicted a perturbing effect of the mutation on V-ATPase complex assembly. Exome sequencing, structural modeling Nature genetics Medium 25915598
1988 The Neurospora crassa vma-2 gene encodes the 57-kDa B subunit of the vacuolar ATPase (ortholog of ATP6V1B2). The polypeptide has no membrane-spanning domains, shows ~25% amino acid identity with both the vma-1 (A subunit) gene product and the alpha/beta subunits of F0F1 ATPases, suggesting it evolved from a common ancestor and likely fulfills a function analogous to the alpha subunit of F0F1 ATPases (non-catalytic nucleotide binding). Gene isolation, DNA sequencing, sequence analysis, genetic mapping The Journal of biological chemistry Medium 2844751
2019 Mutations in ATP6V1B2 found in follicular lymphoma activate autophagic flux and maintain mTOR in an active state, enabling survival under low leucine conditions. Engineered lymphoma cell lines and primary FL B cells with mutated ATP6V1B2 were addicted to autophagy for survival, demonstrating that recurrent hotspot mutations in ATP6V1B2 constitutively upregulate autophagic flux as an adaptive mechanism in lymphoma pathogenesis. Engineered lymphoma cell lines, primary FL B cells, yeast complementation (S. cerevisiae), autophagy inhibitor treatment, leucine starvation assays The Journal of clinical investigation High 30720463
2019 The ATP6V1B2 c.1516C>T (p.Arg506X) mutation causes cognitive defects in knockin mice via impaired hippocampal CA1 region function. Co-immunoprecipitation demonstrated a weaker interaction between the V1E and B2 subunits in Atp6v1b2 Arg506X/Arg506X mice, although overall V-ATPase assembly was not abolished, indicating the molecular mechanism involves weakened inter-subunit interactions rather than complete complex disassembly. Knockin mice (Atp6v1b2 c.1516C>T), behavioral tests, resting-state fMRI, immunofluorescence, Western blot, co-immunoprecipitation, zebrafish atp6v1b2 knockdown EBioMedicine High 31257146
2021 In Atp6v1b2 Arg506X knockin mice, lysosomal dysfunction and blockade of autophagic flux in spiral ganglion neurons leads to apoptosis and neurodegeneration, causing progressive hearing loss. Atp6v1b1 transcription was upregulated in hair cells as genetic compensation, explaining milder hearing impairment in hair cells. Intraperitoneal administration of apoptosis inhibitor BIP-V5 improved phenotypic and pathological outcomes. Transgenic knockin mice, ABR, DPOAE, immunostaining, Western blotting, RNAscope, apoptosis inhibitor treatment Frontiers in cell and developmental biology High 34746137
2024 Disease-associated gain-of-function variants in ATP6V1B2 (and ATP6V1C1) upregulate V-ATPase proton-pumping activity, resulting in increased lysosomal acidification, disrupted lysosomal morphology and localization, defective autophagic flux, accumulation of lysosomal substrates, and impaired cilium biogenesis. This classifies these disorders as lysosomal diseases caused by V-ATPase gain-of-function. Functional cell biology assays, lysosomal acidification measurements, autophagy flux assays, lysosomal morphology/localization imaging, cilia biogenesis assays HGG advances High 39210597
2025 In response to starvation, the nonreceptor tyrosine kinase ABL1 directly interacts with ATP6V1B2 and phosphorylates it at tyrosine 68 (Y68). This phosphorylation facilitates recruitment of the ATP6V1D subunit into the V1 subcomplex and potentiates assembly of the V1 subcomplex with the membrane-embedded V0 subcomplex to form functional V-ATPase, thereby enhancing lysosomal acidification and supporting autophagic/mitophagic degradation. Co-immunoprecipitation, in vitro phosphorylation assay, site-directed mutagenesis (Y68), proximity ligation assay, lysosomal pH measurement, lysosomal hydrolase activity assay, autophagy/mitophagy flux assays, ABL1 inhibition/knockdown Autophagy High 39757940
2014 In Candida albicans (ortholog VMA2/V1B subunit), the V1B subunit is required for V-ATPase assembly at the vacuolar membrane, proton transport activity, and ATPase-specific activity. Repression of VMA2 caused vacuolar alkalinization, abnormal vacuolar morphology, impaired filamentation and virulence, defective autophagy under nitrogen starvation, and increased osmotic stress susceptibility. Tetracycline-regulatable VMA2 mutant, proton transport assay, ATPase activity assay, vacuolar morphology imaging, filamentation assays, C. elegans infection model Eukaryotic cell High 25038082
2023 Atp6v1b2 Arg506* heterozygous knockin mice display locomotor hyperactivity, reduced anxiety, interictal epileptic activity on EEG, and reduced seizure threshold to pentylenetetrazol, confirming that the ATP6V1B2 p.Arg506* variant causes seizure susceptibility in vivo. IMPC phenotyping pipeline, EEG recording, pentylenetetrazol seizure threshold assay, behavioral tests Genes Medium 37628590
2024 Knockdown of Vha55 (the Drosophila ortholog of ATP6V1B2) in flies causes seizure-like behaviors and climbing defects, establishing a causal relationship between ATP6V1B2 loss-of-function and epilepsy phenotypes. Drosophila Vha55 knockdown model, seizure-like behavior assay, climbing assay, NMD analysis Clinical genetics Medium 39075926
2025 AAV-mediated delivery of wild-type Atp6v1b2 into the scala media of hair cell-specific Atp6v1b2 knockout mice (Atp6v1b2fl/fl;Atoh1Cre/+) prevented hair cell degeneration, restored lysosomal morphology, and rescued auditory and vestibular function for at least 24 weeks, establishing that Atp6v1b2 is critical for lysosomal function in hair cells and that its loss drives hair cell degeneration and hearing loss. Hair cell-specific conditional knockout mice, AAV-ie-Eh3 gene delivery, ABR, vestibular function tests, lysosomal morphology imaging Advanced science High 40068100
2026 l-Lactate-driven lactylation of ATP6V1B2 at K108/K109 restricts its conformational flexibility, causing disassembly of the V1-V0 complex and loss of proton pump activity, leading to lysosomal alkalinization and membrane permeabilization. This triggers cathepsin B leakage, mitochondrial ROS, and Caspase-8/3/GSDME-dependent pyroptosis. AAV delivery of a lactylation-deficient ATP6V1B2 (K108R/K109R) mutant attenuated airway inflammation in an asthma model. Quantitative lactylomics, molecular dynamics simulations, biochemical assays, V-ATPase assembly assay, lysosomal pH measurement, LMP assay, primary HBEs, HDM asthma model, AAV-delivered 2KR mutant Redox biology High 41637881
2026 ATP6V1B2 promotes lysosomal degradation of fatty acid synthase (FASN) by maintaining the acidic environment of lysosomes; loss of ATP6V1B2 in hepatocytes impairs lysosomal acidification and autophagic activity, leading to FASN accumulation and increased lipid deposition, oxidative stress, and hepatic steatosis. ATP6V1B2 siRNA knockdown in liver cells, lipid accumulation assays, oxidative stress assays, autophagic flux assays, lysosomal pH measurement, FASN protein level analysis Cell death discovery Medium 41876447
2025 In response to DNA damage, a subset of senescent cells upregulates ATP6V1B2 (V1B2) on the cell surface (csV1B2). This surface localization is associated with altered lysosomal activity and changes in intracellular pH. Cells expressing csV1B2 show increased resistance to ABT-737-induced apoptosis and a transcriptional signature of DNA repair and apoptosis resistance. Flow cytometry, live-cell imaging, transcriptional profiling, in vitro apoptosis resistance assay, analysis of naturally occurring senescent cells in ageing and fibrotic lungs bioRxivpreprint Low bio_10.1101_2025.11.30.691415

Source papers

Stage 0 corpus · 54 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. Cell 1718 22658674
2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America 1479 12477932
2015 The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell 1118 26186194
2017 Architecture of the human interactome defines protein communities and disease networks. Nature 1085 28514442
2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell 1015 26496610
2014 A proteome-scale map of the human interactome network. Cell 977 25416956
2002 The vacuolar (H+)-ATPases--nature's most versatile proton pumps. Nature reviews. Molecular cell biology 961 11836511
2018 VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Cell discovery 829 29507755
2003 Complete sequencing and characterization of 21,243 full-length human cDNAs. Nature genetics 754 14702039
2021 Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Cell 705 33961781
2012 A census of human soluble protein complexes. Cell 689 22939629
2015 Metabolism. Lysosomal amino acid transporter SLC38A9 signals arginine sufficiency to mTORC1. Science (New York, N.Y.) 678 25567906
2011 Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Briefings in bioinformatics 656 21873635
2008 Large-scale proteomics and phosphoproteomics of urinary exosomes. Journal of the American Society of Nephrology : JASN 607 19056867
2020 Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms. Science (New York, N.Y.) 564 33060197
2015 SLC38A9 is a component of the lysosomal amino acid sensing machinery that controls mTORC1. Nature 548 25561175
1997 Structure, function and regulation of the vacuolar (H+)-ATPase. Annual review of cell and developmental biology 488 9442887
2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome research 438 15489334
2022 OpenCell: Endogenous tagging for the cartography of human cellular organization. Science (New York, N.Y.) 432 35271311
2015 Panorama of ancient metazoan macromolecular complexes. Nature 407 26344197
1999 Vacuolar and plasma membrane proton-adenosinetriphosphatases. Physiological reviews 348 10221984
2021 A proximity-dependent biotinylation map of a human cell. Nature 339 34079125
2007 Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation. Cell 307 17662945
2015 Mutations in early follicular lymphoma progenitors are associated with suppressed antigen presentation. Proceedings of the National Academy of Sciences of the United States of America 298 25713363
2020 Phosphorylated tau interactome in the human Alzheimer's disease brain. Brain : a journal of neurology 290 32812023
2012 A high-throughput approach for measuring temporal changes in the interactome. Nature methods 273 22863883
2022 Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration. Cell 256 35063084
1999 Structure and properties of the vacuolar (H+)-ATPases. The Journal of biological chemistry 252 10224039
2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). Journal of proteome research 237 19199708
2014 Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. Journal of proteomics 215 25281560
2015 Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nature genetics 176 25915598
1988 Isolation of genes encoding the Neurospora vacuolar ATPase. Analysis of vma-2 encoding the 57-kDa polypeptide and comparison to vma-1. The Journal of biological chemistry 150 2844751
1995 Diversity among the gram-positive acetyltransferases inactivating streptogramin A and structurally related compounds and characterization of a new staphylococcal determinant, vatB. Antimicrobial agents and chemotherapy 78 8540711
2019 A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability. EBioMedicine 34 31257146
2019 Follicular lymphoma-associated mutations in vacuolar ATPase ATP6V1B2 activate autophagic flux and mTOR. The Journal of clinical investigation 29 30720463
2017 Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation. Clinical case reports 27 28396750
2020 DOORS syndrome and a recurrent truncating ATP6V1B2 variant. Genetics in medicine : official journal of the American College of Medical Genetics 24 32873933
2014 The contribution of Candida albicans vacuolar ATPase subunit V₁B, encoded by VMA2, to stress response, autophagy, and virulence is independent of environmental pH. Eukaryotic cell 23 25038082
2019 EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. European journal of medical genetics 16 31655144
2020 ATP6V1B2-related epileptic encephalopathy. Epileptic disorders : international epilepsy journal with videotape 13 32597767
2021 Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux. Frontiers in cell and developmental biology 12 34746137
2020 Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene. Frontiers in neurology 12 32849222
2024 Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. HGG advances 10 39210597
2016 Association of ATP6V1B2 rs1106634 with lifetime risk of depression and hippocampal neurocognitive deficits: possible novel mechanisms in the etiopathology of depression. Translational psychiatry 10 27824360
2022 A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype. American journal of medical genetics. Part A 8 36135319
2006 ZMVHA-B1, the gene for subunit B of vacuolar H+-ATPase from the eelgrass Zostera marina L. Is able to replace vma2 in a yeast null mutant. Journal of bioscience and bioengineering 6 17189165
2025 Single Administration of AAV-mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2-Induced Lysosomal Dysfunction in Hair Cells. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 5 40068100
2023 The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice. Genes 5 37628590
2025 Nonreceptor tyrosine kinase ABL1 regulates lysosomal acidification by phosphorylating the ATP6V1B2 subunit of the vacuolar-type H+-ATPase. Autophagy 4 39757940
2020 Establishment of human induced pluripotent stem cell line (CPGHi002-A) from a 10-month-old female patient with DDOD syndrome carrying a heterozygous c.1516 C > T mutation in ATP6V1B2. Stem cell research 4 32961450
2021 Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene. Stem cell research 1 33714068
2026 Lactate-driven ATP6V1B2 lactylation triggers asthmatic inflammation by linking lysosomal dysfunction to mitochondrial ROS-dependent pyroptosis. Redox biology 0 41637881
2026 ATP6V1B2 alleviates hepatic steatosis by promoting lysosomal acidification in hepatocytes. Cell death discovery 0 41876447
2024 Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model. Clinical genetics 0 39075926