Ask about this productRelated genes to: PPP2R2B antibody
- Gene:
- PPP2R2B NIH gene
- Name:
- protein phosphatase 2 regulatory subunit Bbeta
- Previous symbol:
- SCA12
- Synonyms:
- PR55-BETA, PR52B, B55beta
- Chromosome:
- 5q32
- Locus Type:
- gene with protein product
- Date approved:
- 1993-01-25
- Date modifiied:
- 2017-04-05
Related products to: PPP2R2B antibody
Related articles to: PPP2R2B antibody
- Short tandem repeat expansions are associated with over 50 diseases, many with primary neurological presentations. Despite the prevalence of short tandem repeat expansion disorders, genetically diagnosing these conditions is complicated by a lack of efficient and comprehensive diagnostic screening approaches. We integrated a new short tandem repeat genotyping tool, STRipy, into the analytical workflow for short-read sequencing data generated by the comprehensive neurological disease gene panel used in the Diagnostic Genomics Department, PathWest Laboratory Medicine. We tested STRipy on Versions 6 and 7 of the panel. Version 6 already included probes covering five short tandem repeat expansion loci in the following genes: , , , and . Additional probes targeting 13 neurological disease short tandem repeat expansion loci were designed and included in Version 7. All expansions detected by STRipy were validated and sized using PCR-based diagnostic techniques. Four hundred and eighteen patients with ataxia were tested on Version 6 of the panel, and 61 (14.6%) had reportable pathogenic variants, including 11 patients with pathogenic repeat expansions detected by STRipy. Sixty-seven ataxia patients were tested on Version 7 of the panel, and 15 (22.4%) had reportable pathogenic variants, including three repeat expansions detected by STRipy. Therefore, STRipy contributed 18.0% and 20.0% of the solved cases from Version 6 and 7 of the ataxia subpanels, respectively. STRipy accurately identified and sized loci with shorter pathogenic repeat thresholds where the expansion was smaller than the read length. In addition to increased diagnostic yield, implementation of STRipy into diagnostic analysis pipelines has streamlined clinical diagnosis of short tandem repeat expansion disorders. - Source: PubMed
Publication date: 2026/03/16
Scriba Carolin KFolland ChiaraBlack MichaelBaker JessicaAbromeit DanielSaw SamanthaChiew Mei-TingGooding RebeccaLaing Nigel GDavis Mark RRavenscroft Gianina - ObjectiveTo explore the potential involvement of PANoptosis-related genes in gastric cancer susceptibility through multiomics analyses.MethodsSummary-data-based Mendelian randomization was performed by integrating blood-derived methylation, gene expression, and protein quantitative trait loci data with genome-wide association study results. The findings were further evaluated in The Cancer Genome Atlas cohort, followed by protein-protein interaction analysis, drug prediction, and molecular docking.ResultsSummary-data-based Mendelian randomization and colocalization analyses identified several traits suggestively associated with gastric cancer risk. Genetically predicted higher expression of apoptosis and caspase activation inhibitor () and hepatocyte growth factor () as well as higher HGF protein levels were associated with increased risk, whereas higher levels of protein phosphatase 2 regulatory subunit B beta (PPP2R2B) appeared to be protective. Multiomics integration suggested epigenetic regulation of and . The Cancer Genome Atlas analysis corroborated the dysregulation of these candidates, with high expression associated with poorer survival. Protein-protein interaction and drug prediction analyses highlighted functional networks and potential therapeutics, supported by molecular docking demonstrating strong HGFbinding affinities. However, these associations did not reach statistical significance in the independent validation cohort, possibly due to limited statistical power.ConclusionsThis study identified , , and as potential candidate genes for gastric cancer. These findings require further validation in larger cohorts. - Source: PubMed
Publication date: 2026/03/16
Wang YunliangXia YujianWeng LinWang JinMeng WenziZhu JiahuiZhao XinZhu Xinguo - This study aimed to investigate the clinical features of spinocerebellar ataxia 12 (SCA12). - Source: PubMed
Publication date: 2026/02/24
Wang XuanZhou BingLingGuo ZhangBaoShao Wei - Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Conventional genetic diagnostics are low-throughput and may miss intronic, structural, or phenocopy variants, leading to delayed or missed diagnoses. In this study, we evaluate the utility of a custom next-generation sequencing (NGS) panel targeting the full-length gene and 10 additional copper metabolism-related genes in patients with clinically suspected WD. - Source: PubMed
Publication date: 2026/03/03
Lin JieWang You-LiangQu YongqiangDong SenweiFang YaofengChen RukaiDing YingLin WeihongChen JianCai NaiqingWang NingChen Wan-JinLin YiWang Zhiqiang - Due to the overlapping clinical features of neurodegenerative dementia (NDD)-including Alzheimer's disease (AD), frontotemporal dementia (FTD), dementia with Lewy bodies (DLB), and progressive supranuclear palsy (PSP), accurate diagnosis remains challenging in early stages. Multiple dementias can be caused by short tandem repeat (STR) expansions. However, systematic investigation of known pathogenic STRs in large dementia cohorts remains lacking. - Source: PubMed
Publication date: 2026/02/26
Zhu YuanXiao XuewenLiu YiliangWang ZhengLuo TengfeiXu TianyanYang QijieHao XiaoliZhang CongZhang SizheLuo ShilinZhou YafangLiao XinxinTian YunWeng LingFang LiangjuanTang BeishaJiao BinLi JinchenShen Lu