Ask about this productRelated genes to: ATP6V1B2 antibody
- Gene:
- ATP6V1B2 NIH gene
- Name:
- ATPase H+ transporting V1 subunit B2
- Previous symbol:
- VPP3, ATP6B2
- Synonyms:
- VATB, Vma2, HO57
- Chromosome:
- 8p21.3
- Locus Type:
- gene with protein product
- Date approved:
- 1990-07-03
- Date modifiied:
- 2016-02-11
Related products to: ATP6V1B2 antibody
Related articles to: ATP6V1B2 antibody
- Depression can be treated with traditional pharmaceuticals targeting monoaminergic function, non-traditional drug classes and neuromodulatory interventions. To identify mechanisms of action shared across clinically-effective antidepressant treatment categories, we performed two systematic meta-analyses of public transcriptional profiling data from adult laboratory rodents (rats, mice). The outcome variable was gene expression, measured by microarray or RNA-Seq from bulk-dissected tissue from two depression-related brain regions (hippocampus, cortex). Relevant datasets were identified in the Gemma database of curated, reprocessed transcriptional profiling data using predefined search terms and inclusion/exclusion criteria ( 6-24-2024, 7-10-2024). Differential expression results were extracted for all genes, minimizing bias. For each gene, a random effects meta-analysis model was fit to antidepressant vs. control effect sizes (Log2 Fold Changes) from each study for each brain region, with follow-up analyses exploring sources of effect heterogeneity. For the hippocampus, 15 relevant studies were identified, containing 22 antidepressant vs. control group comparisons (collective =313 samples), with approximately half representing traditional versus non-traditional antidepressants. Of 16,439 analyzed genes, 58 were consistently differentially expressed (False Discovery Rate (FDR)<0.05) following treatment. Antidepressant effects were enriched in the dentate gyrus and in gene sets related to stress regulation, brain growth and plasticity, vasculature and glia, and immune function. Comparisons with single nucleus RNA-Seq confirmed effects on specific hippocampal cell types, including potential rejuvenation of dentate granule neurons. For the cortex, 13 studies were identified, containing 16 antidepressant vs. control group comparisons (collective =233 samples). Of 15,583 analyzed genes, only one was consistently differentially expressed (FDR<0.05: ), but overall expression patterns moderately resembled the hippocampus. These genes and pathways showing consistent differential expression across treatment categories may be promising targets for novel therapies. Future work should explore relevance to human clinical populations and potential heterogeneity introduced by sex and subregion. - Source: PubMed
Publication date: 2026/05/06
Geoghegan Eva MHagenauer Megan HHernandez ErinEspinoza SophiaFlandreau ElizabethNguyen Phi TSantiago Adrienne NBhuiyan Mubashshir Ra'eedMensch SophieWatson StanleyAkil HudaHen René - - Source: PubMed
Publication date: 2026/04/17
Feng ZiFangLi JieYang YunZhongChen MingLuWu XueMeiZhou ChengYing - Indigenous poultry genetic resources are crucial for breeding and food security. In Xinjiang, China, the Ili gamecock and Yemili chicken represent two indigenous breeds with distinct and valuable traits. The Ili gamecock is prized for its large body size and aggressive behavior, whereas the Yemili chicken shows remarkable adaptation to the cold environment of the Tacheng area, with strong disease resistance, and foraging ability suited to free-range grazing. As understanding their genetic basis is key to their conservation and sustainable use, we conducted whole-genome sequencing of 22 individuals from both breeds and integrated the data with 83 publicly available genomes to construct a comprehensive dataset of 12 global chicken populations. After identifying over 11.3 million high-quality SNPs, we assessed genetic diversity and population structure. Analyses revealed that the Ili gamecock is closely related to the Turpan gamecock, forming a distinct cluster. Selection signature analyses based on fixation index (FST) and nucleotide diversity ratio (π ratio) identified genomic regions under positive selection associated with aggressiveness and muscularity in gamecocks (e.g., NELL1, SOX5, SEMA3A, KCNMA1) and with stress response, intestinal integrity, and energy homeostasis in Yemili chickens (e.g.,MAPK8IP3, HBEGF, PARD3, ATP6V1B2, ATP5PD). This study provides a comprehensive genomic landscape of these two emerging Xinjiang breeds, elucidates their unique evolutionary histories, and offers valuable genetic resources for future conservation and breeding programs. - Source: PubMed
Publication date: 2026/03/21
Yang HaichenLiang QianqianSu PengAndersson GöranBongcam-Rudloff ErikRouzi MahabaJiang LinHan JilongYang Min - Pathogenic variants in ATP6V1B2, which encodes a critical subunit of vacuolar-type H+-ATPases (V-ATPases), disrupt lysosomal acidification via haploinsufficiency and clinically manifest as intellectual disability and seizure disorders. Despite significant morbidity, mechanism-based therapies remain an unmet need. Through integrated clinical analysis of a Chinese cohort and systematic literature review, we delineated genotype-phenotype correlations in ATP6V1B2-related syndromes. Isogenic HEK293T models (ATP6V1B2 and ATP6V1B2) were generated using CRISPR/Cas9 for dynamic lysosomal pH monitoring via ratiometric RpH-LAMP1-3×flag imaging to evaluate pathophysiological mechanisms. Parallel investigations in Atp6v1b2 mice incorporated continuous video-EEG monitoring, behavioral assessments, western blot analyses, and transmission electron microscopy to evaluate therapeutic responses. Drug concentrations in plasma and brain homogenates were quantified by liquid chromatography-tandem mass spectrometry (LC-MS/MS). Clinical analysis revealed central nervous system manifestations (epilepsy, intellectual disability, developmental delay) as primary morbidity determinants. Cellular studies demonstrated significant increase of lysosomal pH in mutant cells compared to wild-type control. Remarkably, treatment with the cAMP analog CPT-cAMP restored lysosomal acidification in a concentration-dependent manner. In vivo studies confirmed spontaneous seizure activity in mutant mice and CPT-cAMP's penetration of the BBB was confirmed by LC-MS/MS. Intraperitoneal CPT-cAMP administration (20 mg/kg) exerted triple therapeutic effects: (1) significant reduction in seizure frequency, (2) improved cognitive performance in behavioral paradigms, and (3) restoration of autophagic flux through resolution of autophagosome accumulation. These findings establish proof-of-concept for cAMP-mediated lysosomal pH modulation as a viable therapeutic strategy. Our results position CPT-cAMP as a promising candidate for addressing both neurological and cognitive manifestations in ATP6V1B2-related disorders. - Source: PubMed
Publication date: 2026/03/27
Zheng LuZhao WeihaoYang GuangQiu ShiweiLi YahongGao LinWei GegeMa YingXie JiangpingGao XueChen LinyanLi XiaogeLin RongfengXiong WeiYuan YongyiDai Pu - Metabolic dysfunction-associated steatotic liver disease (MASLD) is a common metabolic disorder characterized by the abnormal accumulation of fat in the liver. ATP6V1B2, an essential subunit of the vacuolar ATPase (V-ATPase) complex, plays a pivotal role in its function and assembly. Despite its importance, the regulatory role of ATP6V1B2 and its molecular mechanism in MASLD progression remain poorly understood. In this study, we observed a significant reduction in ATP6V1B2 expression in the serum of MASLD patients. Experimental results demonstrated that inhibiting ATP6V1B2 expression in liver cells led to increased lipid accumulation, aggravated oxidative stress, upregulation of fatty acid synthase (FASN), and impaired autophagic activity. Further investigation revealed that ATP6V1B2 promotes the lysosomal degradation of FASN by maintaining the acidic environment of lysosomes, thereby playing a crucial role in lipid metabolism regulation. These findings uncover the critical mechanism by which ATP6V1B2 contributes to MASLD development and suggest that restoring its function could offer novel therapeutic strategies for treating this condition. - Source: PubMed
Publication date: 2026/03/24
Xu RuiziYang FujiZhang ZhuanCheng FangLi ShihuiYan YongminWang YananZhou Jing