GABBR2 (Phosphospecific)
- Known as:
- GABBR2 (Phosphospecific)
- Catalog number:
- NB100-61101
- Product Quantity:
- 0.1 ml
- Category:
- -
- Supplier:
- ACR
- Gene target:
- GABBR2 (Phosphospecific)
Related genes to: GABBR2 (Phosphospecific)
- Gene:
- GABBR2 NIH gene
- Name:
- gamma-aminobutyric acid type B receptor subunit 2
- Previous symbol:
- GPR51
- Synonyms:
- HG20, GABABR2, GPRC3B
- Chromosome:
- 9q22.33
- Locus Type:
- gene with protein product
- Date approved:
- 1999-04-23
- Date modifiied:
- 2016-10-05
Related products to: GABBR2 (Phosphospecific)
Related articles to: GABBR2 (Phosphospecific)
- Certain events that occur in early life, such as changes in nutrition, can induce structural and functional modifications in brain development, leading to behavioral programing in the offspring. These effects depend on the timing, intensity, and duration of exposure, and may contribute to chronic disorders in adulthood. Artificial non-nutritive sweeteners (NNS), such as saccharin, have recently been proposed as potential developmental disruptors. Saccharin consumption during pregnancy is discouraged, as it can cross the placenta and accumulate in the fetus. - Source: PubMed
Publication date: 2026/04/30
Pacheco-Sánchez BeatrizLópez-Merchán RaquelRubio PabloGarcía-Martos PilarSuárez JuanSanjuan CarlosRubio LeticiaMartín-de-Las-Heras StellaRodríguez de Fonseca FernandoAlén Franciscode Ceglia MarialuisaRivera Patricia - Context-induced relapse is a significant factor limiting recovery from alcohol use disorder (AUD). However, the molecular processes in the hippocampus, critical for contextual memory, impacted by chronic alcohol use, remain poorly understood. We used a non-human primate model to test the hypothesis that chronic alcohol use impacts hippocampal molecular pathways that may serve as therapeutic targets for memory processing in chronic alcohol use. We conducted RNAseq profiling on hippocampal samples from adult male rhesus monkeys with chronic alcohol use (n = 7) and controls (n = 5). We identified 2,575 differentially expressed genes in subjects with chronic alcohol use, including genes implicated in genome-wide association studies of alcohol dependence, such as GLP2R and GABBR2. Downregulated pathways included chemical synaptic transmission, trans-synaptic signaling, and neuron development, and upregulated pathways involved mitochondrial function. Targeted pathway analysis highlighted downregulation of synaptic signaling and upregulation of mitochondrial processes. Leading-edge gene analysis revealed downregulated genes involved in synaptic signaling and upregulated genes involved in mitochondrial processes. Drug repurposing analysis identified several potential therapeutic targets, including epidermal growth factor receptor inhibitors and L-type calcium channel blockers. Our results provide critical insights into molecular pathways underlying hippocampal pathology in chronic alcohol use and offer potential novel therapeutic targets. - Source: PubMed
Publication date: 2026/05/06
Pareek TanyaVergis John MZhang XiaoluPlatt Donna MGrant Kathleen AMcCullumsmith RobertGisabella BarbaraO'Donovan Sinead MPantazopoulos Harry - Autism spectrum disorder (ASD) shows a consistent sex bias, yet how sex shapes de novo variant (DNV) risk across coding and noncoding sequence remains unclear. I analyzed DNVs in > 41,000 parent–child sequenced trios from three ASD family-based cohorts and compared DNV characteristics and enrichment patterns in males and females. Notably, these trios included individuals with ASD as well as those without ASD. I developed a new sex-aware DNV caller (HAT-FLEX) and thoroughly evaluated each candidate DNV using an additional tool introduced in this study, SNOW, to generate a high-confidence callset. - Source: PubMed
Publication date: 2026/04/24
Turner Tychele N - Thoracic aortic dissection (TAD) is a highly lethal vascular condition closely associated with endothelial cell (EC) dysfunction. γ-Aminobutyric acid (GABA) can be synthesized in ECs and modulate cell functions; however, its underlying roles in TADs are unclear. Untargeted metabolomics revealed that GABA levels are decreased in the aortic intima of TAD patients and that GABA is a hub metabolite involved in TAD pathogenesis. To investigate the role of endothelial GABA in TAD progression, mice with EC-specific GAD1 deletion or overexpression were generated via AAV infection, and a TAD model was induced. Both endogenous and exogenous GABA attenuate the development and incidence of TAD by reducing endothelial dysfunction and inflammatory infiltration. Mechanistically, GABA attenuated oxidative stress-induced endothelial dysfunction by inhibiting MAPK/c-FOS signaling pathway activation via GABBR2-mediated mitochondrial homeostasis. Moreover, EC-derived GABA protected vascular SMCs from inflammation-induced disturbances in homeostasis by modulating Notch3 protein expression. Plasma GABA levels are lower in TAD patients than in healthy controls, as determined by ELISA, and correlation analysis revealed that decreased plasma GABA levels are associated with an increased risk of aortic dissection. Diagnostic models for early TAD diagnosis based on plasma GABA levels were constructed and found to be highly effective. These findings demonstrated the substantial benefits of EC-derived GABA for vascular homeostasis by protecting ECs and SMCs from dysfunction and provided new insights for TAD intervention and prevention. - Source: PubMed
Publication date: 2026/04/24
Shao LianboYu YouHuang HaoyueChen YihuanTeng XiaomeiShen HanDing YinglongZhou YihongWang TingyuShen Zhenya - GABA receptors, the G protein-coupled receptors for the neurotransmitter GABA, are essential for regulating neuronal excitability in the brain. Monoallelic de novo missense variants in GABBR1 and GABBR2, which encode the receptor subunits, have been associated with neurodevelopmental disorders. Here, we investigated the functional impact of seven de novo missense variants in GABBR1 and GABBR2 identified in individuals with autism spectrum disorder, intellectual disability, and/or attention deficit/hyperactivity disorder. In vitro functional characterization of these variants revealed a range of gain- and loss-of-function alterations: (i) increased constitutive activity, leading to a corresponding decrease in GABA efficacy; (ii) a significant reduction in GABA potency at the receptor; and (iii) reduced surface expression, resulting in decreased GABA efficacy. While computational predictions indicated pathogenicity for all variants, our study emphasizes the importance of functional studies in clarifying the nature and scope of pharmacological changes-an essential step toward advancing targeted therapies in precision medicine. - Source: PubMed
Publication date: 2026/03/09
Stawarski MichalBielopolski NoaRoitman IlanaFridman KarenWald-Altman ShaneEitel MeganHui BenedictVulto-van Silfhout AnnekeStegmann Alexander P AChirita-Emandi AdelaEason JacquelineBradshaw KirstyDarnell LewisKostrzewa GrażynaPloski RafalMeurs RomaneBatté AmandineAntonarakis Stylianos EGassmann MartinBettler Bernhard