Ask about this productRelated genes to: PTK2B antibody
- Gene:
- PTK2B NIH gene
- Name:
- protein tyrosine kinase 2 beta
- Previous symbol:
- FAK2
- Synonyms:
- CAKB, PYK2, RAFTK, PTK, CADTK
- Chromosome:
- 8p21.2
- Locus Type:
- gene with protein product
- Date approved:
- 1998-06-22
- Date modifiied:
- 2017-12-06
Related products to: PTK2B antibody
Related articles to: PTK2B antibody
- Chronic diseases impose a global health burden, contributing to high mortality and economic costs. Even with the recent surge in molecular data, these conditions remain largely incurable due to their biological complexity, data fragmentation, and analysis challenges, hindering early diagnosis, mechanistic understanding, and therapy. To address this, we developed PathoAnalyzer-I, an platform that combines bioinformatics and machine learning to decipher chronic diseases. The tool requires no programming skills and provides a user-friendly interface for pathological analysis within a single framework. PathoAnalyzer-I uses a dataset of molecular data for 531 chronic diseases, from databases including the GWAS Catalog, PubChem, and STRING-db, enriched with machine learning-based predictions. Its dual-prediction system enhances molecular insights: one model imputes missing risk alleles with 77.6% accuracy, while a second predicts novel SNP-disease associations with 89.3% accuracy, providing avenues for future research. Applied to Alzheimer's disease, the platform identified diagnostic biomarkers (e.g. rs6733839T), core genes in disease mechanisms (e.g. , , , , ), major pathological mechanisms like amyloid processing, synaptic dysfunction, and cellular vulnerability, as well as therapeutic molecules including Beta-Lapachone and preventive compounds such as curcumin. With its features, PathoAnalyzer-I enables scientists, regardless of their resources, to conduct in-depth studies of chronic diseases. - Source: PubMed
Publication date: 2026/05/08
Aguerd AliBennis FaizaChegdani Fatima - Normal vascular structure and function are crucial for the homeostasis of the central nervous system (CNS), yet the regulation of CNS vasculature remains incompletely understood. Here we show that CD98 heavy chain (CD98hc), also known as SLC3A2 or 4F2hc, is essential for CNS angiogenesis and blood-brain barrier (BBB) integrity. CD98hc is selectively enriched in the CNS endothelium versus the peripheral endothelium in mice and humans. Ablation of endothelial CD98hc in mouse embryos leads to aberrant CNS angiogenesis, impaired BBB formation and cerebral hemorrhage, without affecting the peripheral vasculature. In adults, endothelial CD98hc deficiency does not impact homeostatic CNS angiogenesis but disrupts the BBB and causes neurological deficits. The mechanism involves a CNS-specific reduction in the systemic integrin-FAK pathway in endothelial cells, affecting subsequent VEGFR2 and Wnt-β-catenin pathways. Importantly, FAK activation fully rectifies the CNS vascular phenotype in CD98hc-deficient mice. These findings open promising avenues for CNS-specific vascular regulation and targeted therapy of cerebrovascular diseases. - Source: PubMed
Publication date: 2026/05/12
Hu XiaoyanYu MinYang ShilunFang ChengWei PengjuZhang XunMa YinzhongFeng ZiyingChen YukunYan JingyuWang YingQiu LinhuiSong DengpanGuo FuyouChang Junlei - Alzheimer disease (AD) risk differs across ancestral populations, yet most genetic studies have focused on non-Hispanic White (NHW) cohorts. We conducted a multi-population transcriptome-wide association study (TWAS) using whole-blood RNA sequencing (RNA-seq) and genotype data from NHW (n = 235), African American (AA; n = 224), and Hispanic (HISP; n = 292) Multi-Ancestry Genomics, Epigenomics, and Transcriptomics of Alzheimer's (MAGENTA) participants. Using sum of shared single effects (SuShiE) for multi-population cis-eQTL fine-mapping, we identified credible sets for 8,748 genes, improving fine-mapping precision relative to analyses using fewer populations. cis-eQTL effects were largely shared across populations, with a subset showing population-specific regulation. We performed population-stratified TWAS of AD and inverse-variance-weighted meta-analysis, followed by gene-level TWAS fine-mapping (MA-FOCUS), prioritizing nine genes (false discovery rate [FDR] <0.05, posterior inclusion probability [PIP] >0.8), including established AD loci (BIN1, PTK2B, DMPK) with broadly consistent effects across populations. At BIN1, fine-mapped cis-eQTL variants used in the TWAS prediction model highlighted rs11682128, which is only modestly correlated with the genome-wide association study (GWAS) index SNP rs6733839 (r ≈ 0.34), demonstrating how integrating eQTL fine-mapping with TWAS can refine signals beyond sentinel GWAS variants. We also identified an association between COG4 expression and AD in NHW, implicating Golgi-related pathways. Using independent SuShiE-derived models from TOPMed MESA (PBMC), several signals replicated directionally across ancestries, with the strongest statistical support in NHW. Overall, multi-population eQTL fine-mapping improves model interpretability and helps resolve shared and population-specific regulatory mechanisms relevant to AD. - Source: PubMed
Publication date: 2026/04/30
Sun XinyuMews MakaelaWheeler Nicholas RBenchek PenelopeGu TianjieGomez LissetteRay NicholasReitz ChristianeNaj Adam CBelow Jennifer ElizabethTosto GiuseppeCornejo-Olivas MarioByrd Goldie SFeliciano-Astacio Briseida ECelis KatrinaRajabli FaridKunkle Brian WPericak-Vance Margaret AHaines Jonathan LGriswold Anthony JBush William S - Macrophages are pivotal in metabolic dysfunction-associated steatohepatitis (MASH) progression, yet their specific markers remain elusive. To address this, we employed an integrated bioinformatics strategy, combining single-cell and bulk transcriptomic data from human MASH livers, to identify macrophage-related differentially expressed genes (Mφ-DEGs). We pinpointed five core Mφ-DEGs- FRMD4B, PTK2B, CPM, SPTLC2, and EPB41L2-that were predominantly expressed in macrophages, with enrichment within pro-fibrotic M2 subsets. A diagnostic model constructed from these genes demonstrated high accuracy (area under the curve = 0.9865) and was robustly validated in an independent cohort. In human and murine MASH samples, FRMD4B and PTK2B were consistently downregulated, whereas CPM, SPTLC2, and EPB41L2 were upregulated. Protein-level validation by immunohistochemistry and immunofluorescence confirmed these expression patterns in human and mouse livers, and in polarized THP-1-derived macrophages. Mendelian randomization analysis identified CPM as a significant causal protective factor, suggesting its upregulation may represent a compensatory response. These genes correlated with altered immune cell infiltration (e.g., T follicular helper and regulatory cells) and were enriched in key MASH pathways, including fatty acid metabolism, sphingolipid signaling, and transforming growth factor beta/PI3K-Akt. Our findings were further corroborated through a multi-level validation framework encompassing clinical samples, a murine MASH model, and in vitro macrophage cultures. This study defines a robust macrophage-specific gene signature for MASH diagnosis and provides genetic evidence for a causal, protective role of CPM. The pronounced enrichment of these genes in M2 macrophages underscores their critical contribution to immunometabolic dysregulation, offering novel insights into MASH pathogenesis and potential diagnostic and therapeutic targets. - Source: PubMed
Publication date: 2026/04/28
Wang TingtingZhu XiayanZhang YiyingSu LihuangPan Tongtong - This study investigated molecular drivers of AD-associated peripheral immune dysregulation to identify pathogenic genes and therapeutic targets for precision diagnosis and intervention. - Source: PubMed
Publication date: 2026/04/13
Lv ShiKuang Jin-YiWang Tian-WeiZhang Li-PingLiu JianWang Wen-diYang Ming-FengNi Qing-BinSun Bao-LiangSun Jing-Yi