Ask about this productRelated genes to: RABL2B antibody
- Gene:
- RABL2B NIH gene
- Name:
- RAB, member of RAS oncogene family like 2B
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 22q13.33
- Locus Type:
- gene with protein product
- Date approved:
- 1998-09-29
- Date modifiied:
- 2017-02-21
Related products to: RABL2B antibody
Related articles to: RABL2B antibody
- Thyroid cancer (TC) is an endocrine malignancy characterized by metabolic abnormalities, with its incidence continually on the rise. Understanding the pathogenesis of this cancer would help develop better diagnostic and therapeutic methods. We aimed to integrate single-cell transcriptomics, bulk transcriptomics, and GWAS data to identify causal associations with thyroid cancer at the gene level. We intended to utilize single-cell atlases to identify malignant cells and their characteristics, and employed SMR to search for genetic loci causally associated with thyroid cancer. We validated the expression differences of the genes at the single-cell level and bulk level, as well as through immunohistochemistry experimental results. We investigated the tumor immune microenvironment of patients, attempting to find immune subgroups with differential proportions. Based on these subgroups, we conducted multi-machine learning modeling to predict the likelihood of disease and developed a corresponding interactive web application. HMGA2, SDCCAG8, DLG5, MT1E, RABL2B, RERE, and NDUFA12 all demonstrated to varying degrees their roles in promoting or inhibiting the occurrence and development of thyroid cancer, with HMGA2 showing consistency across all analyses. We also identified some immune subtypes significantly associated with TC and chose markers of T_cell_C8_STMN1 to construct patient diagnostic models. Through various combinations of machine learning feature selection and model construction, we ultimately built 178 diagnostic models, with the combination of glmBoost+RF having the best diagnostic performance (Average AUPR: 0.9915). The predictive web pages ( https://zclab-cnp.shinyapps.io/TC-WEB/ ) can provide convenience and reference for clinical personnel. - Source: PubMed
Publication date: 2025/11/17
Zhang CongWang YuXie Biao - Premalignant lesions within the bronchial epithelium signify the initial phases of squamous cell lung carcinoma, posing challenges for detection via conventional methods. Instead of focusing solely on gene expression, in this study, we explore transcriptomic alterations linked to lesion progression, with an emphasis on protein-coding transcripts. We reanalyzed a publicly available RNA-Seq dataset on airway epithelial cells from 82 smokers with and without premalignant lesions. Transcript and gene abundance were quantified using kallisto, while differential expression and transcript usage analysis was performed utilizing sleuth and RATs packages. Functional characterization involved overrepresentation analysis via clusterProfiler, weighted coexpression network analysis (WGCNA), and network analysis via Enrichr-KG. We detected 5906 differentially expressed transcripts and 4626 genes, exhibiting significant enrichment within pathways associated with oxidative phosphorylation and mitochondrial function. Remarkably, transcript-level WGCNA revealed a single module correlated with dysplasia status, notably enriched in cilium-related biological processes. Notable hub transcripts included RABL2B (ENST00000395590), DNAH1 (ENST00000420323), EFHC1 (ENST00000635996), and VWA3A (ENST00000563389) along with transcription factors such as FOXJ1 and ZNF474 as potential regulators. Our findings underscore the value of transcript-level analysis in uncovering novel insights into premalignant bronchial lesion biology, including identification of potential biomarkers associated with early lung carcinogenesis. - Source: PubMed
Publication date: 2024/06/18
Pyatnitskiy Mikhail APoverennaya Ekaterina V - Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of developmental, medical, cognitive and behavioral abnormalities. Previous literature has begun to elucidate genotype-phenotype associations that may contribute to the wide spectrum of features. Here, we report results of genotype-phenotype associations in a cohort of 170 individuals with PMS. Genotypes were defined as Class I deletions (including SHANK3 only or SHANK3 with ARSA and/or ACR and RABL2B), Class II deletions (all other deletions) or sequence variants. Phenotype data were derived prospectively from direct evaluation, caregiver interview and questionnaires, and medical history. Analyses revealed individuals with Class I deletions or sequence variants had fewer delayed developmental milestones and higher cognitive ability compared to those with Class II deletions but had more skill regressions. Individuals with Class II deletions were more likely to have a variety of medical features, including renal abnormalities, spine abnormalities, and ataxic gait. Those with Class I deletions or sequence variants were more likely to have psychiatric diagnoses including bipolar disorder, depression, and schizophrenia. Autism spectrum disorder diagnoses did not differ between groups. This study represents the largest and most rigorous genotype-phenotype analysis in PMS to date and provides important information for considering clinical functioning, trajectories and comorbidities as a function of specific genetic alteration. - Source: PubMed
Levy TessFoss-Feig Jennifer HBetancur CatalinaSiper Paige MTrelles-Thorne Maria Del PilarHalpern DanielleFrank YitzchakLozano ReymundoLayton ChristinaBritvan BariBernstein Jonathan ABuxbaum Joseph DBerry-Kravis ElizabethPowell Craig MSrivastava SiddharthSahin MustafaSoorya LathaThurm AudreyKolevzon Alexander - RAB proteins (RABs) represent the largest subfamily of Ras-like small GTPases that regulate a wide variety of endosomal membrane transport pathways. Their aberrant expression has been demonstrated in various malignancies and implicated in pathogenesis. Using The Cancer Genome Atlas (TCGA) database, we analyzed the differential expression and clinicopathological association of genes in pancreatic ductal adenocarcinoma (PDAC). Of the 62 genes analyzed, five and ) exhibited statistically significant upregulation, while five ( and ) were downregulated in PDAC as compared to the normal pancreas. Racially disparate expression was also reported for and . However, no clear trend of altered expression was observed with increasing stage and grade, age, and gender of the patients. PDAC from occasional drinkers had significantly higher expression of compared to daily or weekly drinkers, whereas expression was significantly higher in social drinkers, compared to occasional ones. The expression of was significantly reduced in PDAC from diabetic patients, whereas was significantly lower in pancreatitis patients. More importantly, a significant association of high expression of and , and low expression of and was observed with poorer survival of PC patients. Together, our study suggests potential diagnostic and prognostic significance of RABs in PDAC, warranting further investigations to define their functional and mechanistic significance. - Source: PubMed
Publication date: 2020/08/04
Anand ShashiKhan Mohammad AslamKhushman Moh'dDasgupta SantanuSingh SeemaSingh Ajay Pratap - Alzheimer's disease (AD) is a chronic neurodegenerative disorder. It is the most common type of dementia that has remained as an incurable disease in the world, which destroys the brain cells irreversibly. In this study, a systems biology approach was adopted to discover novel micro-RNA and gene-based biomarkers of the diagnosis of Alzheimer's disease. The gene expression data from three AD stages (Normal, Mild Cognitive Impairment, and Alzheimer) were used to reconstruct co-expression networks. After preprocessing and normalization, Weighted Gene Co-Expression Network Analysis (WGCNA) was used on a total of 329 samples, including 145 samples of Alzheimer stage, 80 samples of Mild Cognitive Impairment (MCI) stage, and 104 samples of the Normal stage. Next, three gene-miRNA bipartite networks were reconstructed by comparing the changes in module groups. Then, the functional enrichment analyses of extracted genes of three bipartite networks and miRNAs were done, respectively. Finally, a detailed analysis of the authentic studies was performed to discuss the obtained biomarkers. The outcomes addressed proposed novel genes, including MBOAT1, ARMC7, RABL2B, HNRNPUL1, LAMTOR1, PLAGL2, CREBRF, LCOR, and MRI1and novel miRNAs comprising miR-615-3p, miR-4722-5p, miR-4768-3p, miR-1827, miR-940 and miR-30b-3p which were related to AD. These biomarkers were proposed to be related to AD for the first time and should be examined in future clinical studies. - Source: PubMed
Publication date: 2020/07/22
Soleimani Zakeri Negar SadatPashazadeh SaeidMotieGhader Habib