EPB41L2 _ 4.1G (aa 593 to 604)
- Known as:
- EPB41L2 _ 4.1G (aa 593 604)
- Catalog number:
- Y213812
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- EPB41L2 _ 4.1G ( 593 604)
Related genes to: EPB41L2 _ 4.1G (aa 593 to 604)
- Gene:
- ARRDC4 NIH gene
- Name:
- arrestin domain containing 4
- Previous symbol:
- -
- Synonyms:
- FLJ36045
- Chromosome:
- 15q26.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-02-11
- Date modifiied:
- 2017-07-14
- Gene:
- ASF1B NIH gene
- Name:
- anti-silencing function 1B histone chaperone
- Previous symbol:
- -
- Synonyms:
- FLJ10604
- Chromosome:
- 19p13.12
- Locus Type:
- gene with protein product
- Date approved:
- 2003-05-01
- Date modifiied:
- 2015-09-11
- Gene:
- CCDC116 NIH gene
- Name:
- coiled-coil domain containing 116
- Previous symbol:
- -
- Synonyms:
- FLJ36046
- Chromosome:
- 22q11.21
- Locus Type:
- gene with protein product
- Date approved:
- 2006-06-27
- Date modifiied:
- 2014-12-03
- Gene:
- CWC22 NIH gene
- Name:
- CWC22 spliceosome associated protein homolog
- Previous symbol:
- -
- Synonyms:
- KIAA1604, EIF4GL, fSAPb, NCM
- Chromosome:
- 2q31.3
- Locus Type:
- gene with protein product
- Date approved:
- 2008-11-27
- Date modifiied:
- 2016-08-08
- Gene:
- ECE2 NIH gene
- Name:
- endothelin converting enzyme 2
- Previous symbol:
- -
- Synonyms:
- KIAA0604, MGC2408
- Chromosome:
- 3q27.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-09-03
- Date modifiied:
- 2017-07-05
Related products to: EPB41L2 _ 4.1G (aa 593 to 604)
(Z)_3_(9_octadecenyloxy)propane_1,2_diol (Z)_3_(9_octadecenylox1,1_Dimethylhydrazine hydrochloride asym_Dimethylhydrazin1,2,3,4,6_Penta_O_Acetyl_a_D_Glucopyra 1,2,3,4,6_Penta_O_Acet1-Triacontanol C30H62O CAS: 593-50-0 1-Triacontanol CAS: 593-50-0 Formula: C30H62O 17a_Hydroxyprogesterone 17a_Hydroxyprogestero17beta_hydroxy_1alpha_methylandrost_4_ 17beta_hydroxy_1alpha_17_alpha_lphahydroxyprogesterone 17_alpha_lphahydroxypr1_Bromo_1_chloroethane 1_Bromo_1_chloroethan1_fluorotetradecane 1_fluorotetradecane1_Triacontanol Triacontanol ; Myricylal2-Aminoacridone *CAS 27918-14-5*2-Aminoacridone *CAS 27918-14-5*2_Aminoacridone2_Aminoacridone Related articles to: EPB41L2 _ 4.1G (aa 593 to 604)
- Macrophages are pivotal in the progression of metabolic dysfunction-associated steatohepatitis (MASH), yet their specific markers remain elusive. Herein, 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 and enriched within profibrotic 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 that 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 multilevel validation framework encompassing clinical samples, a murine MASH model, and in vitro macrophage cultures. This study characterized a robust macrophage-specific gene signature for MASH diagnosis and offered genetic evidence regarding the 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 - Osteoarthritis (OA) involves a complex pathogenesis encompassing inflammation, metabolic dysregulation, and aberrant intercellular communication. Despite their crucial role as mediators of intercellular signaling, exosomes remain largely underexplored in OA. This study aims to investigate exosome-related genes (ERGs) and their roles in OA pathogenesis. Four OA-related gene expression datasets retrieved from GEO were harmonized using the ComBat algorithm to mitigate batch effects. Differentially expressed genes (DEGs) were identified through differential expression analysis and weighted gene co-expression network analysis (WGCNA). ERGs were screened utilizing the ExoCarta and Vesiclepedia databases. Core ERGs were prioritized using LASSO, random forest, and XGBoost algorithms. Predictive models were constructed and subsequently evaluated using SHAP analysis to ascertain feature importance. Additionally, pathway enrichment, immune infiltration, and molecular subtype identification were performed, followed by validation of core ERG expression via RT-qPCR in clinical samples. Integration of the four GEO datasets yielded 231 DEGs significantly enriched within OA-associated pathways (e.g., inflammation, immune cell migration, extracellular matrix remodeling). From a pool of 79 candidate ERGs, 10 core ERGs (EPB41L2, ISLR, HLA-DRB1, HLA-DRA, PGLYRP1, PTEN, TKT, CTNNB1, THSD4, ATP9A) were identified. Random forest models achieved impressive AUCs of 0.991, 1.0, and 0.935 in the training, validation, and external validation sets, respectively, demonstrating substantial clinical net benefit. SHAP analysis underscored CTNNB1 and PGLYRP1 as pivotal predictors. Core ERGs were intricately linked to immune regulation (e.g., M1 macrophage infiltration) and metabolic perturbations (e.g., fatty acid metabolism). Distinct molecular subtypes of OA were delineated based on ERG profiles, thereby revealing the inherent disease heterogeneity. RT-qPCR further corroborated the differential expression of core ERGs in clinical samples. This study comprehensively integrates exosome-related genomic data with advanced machine learning techniques to identify and validate 10 core ERGs associated with OA, thereby elucidating their pivotal roles in immunometabolic regulation. These seminal findings illuminate the intricate molecular heterogeneity of OA, concurrently offering promising novel biomarkers and therapeutic targets for early diagnosis and precision treatment. - Source: PubMed
Publication date: 2025/12/21
You ChuanfeiDai FurenDai BingzhuWu WeijunFang LeJia WeiminHan XuSu ZhiLi Jian - Pain is a common and complex non-motor symptom in people with Parkinson's disease (PWP). Little is known about the genetic drivers of pain in PWP, and progress in its study has been challenging. Here, we conducted two genome-wide association studies (GWAS) to identify genetic variants associated with pain experienced during the earliest stages of Parkinson's disease. The study population consisted of 4,159 PWP of European ancestry who were mapped to five previously-described, longitudinal pain trajectories. In the first GWAS, the extreme pain trajectories (highest burden versus no significant pain over time) were compared, and in the second GWAS, a multinomial approach was undertaken. While no variant reached genome-wide significance, we identified promising associations, such as rs117108018 (OR=8.96, p=2.5 × 10), a brain/nerve eQTL for L3MBTL3 and EPB41L2, and rs61881484 (p=2 × 10), which intersects a transcription factor peak targeting CREB1, critical in sensory neuron synaptic plasticity and neuropathic pain regulation. Gene-based tests implicated CTNNB1 (p=3.2 × 10), KLK7 (p=7 × 10), and SLITRK3 (p=3.2 × 10), which have been associated with neurodevelopment. At the pathway-level, there was an enrichment for genes involved in neurotransmitter regulation and opioid dependence. This study implicates neuropathic pain mechanisms as prominent drivers of elevated pain in PWP, suggests potential therapeutic genetic targets for further research. - Source: PubMed
Publication date: 2025/02/20
Liu ShiyingGunzler Douglas DGunzler Steven ACrawford Dana CBriggs Farren B S - During mammalian spermatogenesis, the cytoskeleton system plays a significant role in morphological changes. Male infertility such as non-obstructive azoospermia (NOA) might be explained by studies of the cytoskeletal system during spermatogenesis. - Source: PubMed
Publication date: 2025/01/25
Hashemi Karoii DanialAzizi HosseinDarvari MaryamQorbanee AliHawezy Dawan Jamal - In this study, we aimed to delineate cellular heterogeneity in Alzheimer's disease (AD) and identify genetic markers contributing to its pathogenesis using integrative analysis of single-nucleus RNA sequencing (sn-RNA-Seq) and Mendelian randomization (MR). The dorsolateral prefrontal cortex sn-RNA-Seq dataset (GSE243292) was sourced from the Gene Expression Omnibus (GEO) database. Data preprocessing was conducted using the Seurat R software package, employing principal component analysis (PCA) and uniform manifold approximation and projection (UMAP) for cell clustering and annotation. MR analysis was used to identify instrumental variables from expression quantitative trait loci (eQTL) and GWAS data by applying inverse variance weighting (IVW), weighted median (WM) and MR-Egger methods. This was complemented by leave-one-out sensitivity analysis to validate the causal relationship on AD risk genes. We identified 23 distinct cell clusters, which were annotated into eight subgroups, including oligodendrocytes, oligodendrocyte precursors, astrocytes, macrophage cells, endothelial cells, glutamatergic neurons, neural stem cells, and neurons. Notably, the number of macrophages significantly increased in the AD group. Using genome-wide association study (GWAS) summaries and eQTL data, MR analysis identified causal relationships for 7 genes with significant impacts on AD risk. Among these genes, CACNA2D3, INPP5D, RBM47, and TBXAS1 were associated with a decreased risk of AD, whereas EPB41L2, MYO1F, and SSH2 were associated with an increased risk. A leave-one-out sensitivity analysis confirmed the robustness of these findings. Expression analysis revealed that these genes were variably expressed across different cell subgroups. Except for the CACNA2D3 gene, the other 6 genes showed increased expression levels in the macrophages, particularly EPB41L2 and SSH2. Our findings highlight the potential of specific genetic markers identified through integrative analysis of sn-RNA-Seq and MR in guiding the diagnosis and therapeutic strategies for Alzheimer's disease. - Source: PubMed
Huang ChaoZhou RuihaoHuang XingyaDai FanshuZhang Biao