Ask about this productRelated genes to: RHEBL1 antibody
- Gene:
- RHEBL1 NIH gene
- Name:
- RHEB like 1
- Previous symbol:
- -
- Synonyms:
- MGC34869, FLJ25797, RHEB2
- Chromosome:
- 12q13.12
- Locus Type:
- gene with protein product
- Date approved:
- 2003-05-22
- Date modifiied:
- 2017-08-07
Related products to: RHEBL1 antibody
Related articles to: RHEBL1 antibody
- Reading disorder (RD), characterized by difficulties in reading, is the most common learning disability and frequently co-occurs with attention-deficit/hyperactivity disorder (ADHD), suggesting shared genetic underpinnings. To investigate their genetic overlap, we leveraged summary statistics from large-scale genome-wide association studies (GWASs) of reading assessment scores and ADHD diagnosis using genomic structural equation modeling. We modeled a common genetic factor capturing shared genetic influences between reading-related traits and ADHD. GWAS of this common factor revealed a pleiotropic locus on chromosome 12 (rs7969091, = -0.035, = 3.86 × 10). Transcriptome-wide structural equation modeling analysis identified associations with tissue-specific expression of RHEBL1 and LMBR1L within the same locus as GWAS hit. Genetic correlation analyses showed significant correlations of the common factor with six psychiatric disorders (r = -0.47 to 0.24) and six behavioral traits (r = 0.31 to 0.74). Our findings provide novel insights into the shared genetic underpinnings of RD and ADHD. - Source: PubMed
Publication date: 2026/07/02
Wang ShiyingBosson-Heenan JoanGrotzinger AndrewFrijters Jan CGruen Jeffrey R - Early temperament, such as socio-emotional development and activity level, varies widely, yet its underlying biological associations are not understood. We identified genetic variation associated with infant and toddler temperament using genome-wide association meta-analyses. We studied parent-rated emotionality, activity, shyness and sociability (n = 43,963-72,663) in the second and third postnatal years and a cross-age average. Cross-age single nucleotide polymorphism heritabilities for emotionality, activity, shyness and sociability were 6.79% (95% confidence interval (CI), (4.71%, 8.87%)), 9.55% (95% CI, (7.04%, 12.06%)), 15.26% (95% CI, (12.24%, 18.28%)) and 3.42% (95% CI, (1.30%, 5.54%)), respectively. Ten genome-wide significant loci were discovered. Two loci colocalized with expression quantitative trait loci in the adult cortex: RHEBL1 (posterior probability, 0.93; associated with activity) and MR1 (posterior probability, 0.99; with emotionality). Genetic correlations were observed between early temperament and later outcomes, such as emotionality and adult neuroticism, activity and attention deficit/hyperactivity disorder (ADHD), sociability and autism, and shyness and adult extraversion. Multi-ancestry (n = 56,083-78,894) and European-ancestry analyses gave similar results. Infant and toddler temperament is associated with genetic variation and shows genetic continuity with later outcomes. - Source: PubMed
Publication date: 2026/07/01
Hollowell AnjaGui AnnaWigdor EmilieMorgan Morgan JHannigan Laurie JCorfield Elizabeth CPool RenéBruins SusanneAsk HelgaMiddeldorp Christel MPourcain Beate StBartels MeikeBoomsma Dorret IHartman Catharina ANoda AoiTakahashi IppeiIshikuro MamiObara TakuKuriyama ShinichiMufford Mary SLake Marilyn TStein Dan JZar Heather JHoffman NadiaRobinson Elise BBørglum Anders DZhang XinheWarrier Varun Arichi TomokiJohnson Mark HDudbridge FrankSanders Stephan JHavdahl AlexandraRonald Angelica - RHEBL1 (RHEB2), a member of the Ras superfamily, has established roles in tumor-promoting signaling pathways including mTOR activation and NF-κB transcription; however, its specific role in oral squamous cell carcinoma (OSCC) and its regulation by the stem cell transcription factors Oct4 and Sox2 have not been previously characterized. This study aimed to elucidate the function and mechanism of RHEBL1 in OSCC development and analyze the regulatory influence of Oct4 and Sox2 on RHEBL1 expression. Immunohistochemistry and immunofluorescence assessed RHEBL1, Oct4, and Sox2 expression in normal and precancerous tissues. RHEBL1-overexpressing and knockout cell lines were created for in vitro assessment of proliferation and self-renewal; mice models were used to evaluate tumor formation in vivo. Bioinformatics analyses predicted Oct4 and Sox2 binding sites within the RHEBL1 promoter, validated by dual-luciferase reporter assays and ChIP-PCR. RHEBL1 showed high expression in OSCC and adjacent tissues, with linear arrangement of positive cells in the basal layer. High levels of RHEBL1, Oct4, and Sox2 were observed at the tumor invasion front and the basal layer of adjacent oral epithelia. RHEBL1 overexpression enhanced sphere formation and induced subcutaneous tumor-like lesions in immunodeficient mice, characterized histologically by invasive growth patterns and vascular structures, whereas control cells showed no such phenomenon. Furthermore, RHEBL1 knockout significantly reduced in vitro sphere formation and in vivo tumorigenicity. Oct4-Sox2 complexes bound two sites in the RHEBL1 promoter; mutations in these sites reduced transcriptional activation. Thus, this study demonstrated that Oct4 and Sox2 promote OSCC initiation and proliferation by regulating RHEBL1 expression. Clinical trial number: not applicable. - Source: PubMed
Publication date: 2026/06/23
Qiu FengChen YaqiuLi PeiboChen ZhuoLam Alfred King-YinLiang YuweiSun XiaojingJiang QianQiao Bin - RHEBL1 is the Rheb branch of the GTPase proteins that are members of the Ras superfamily. However, it remains unclear how it is relevant to the tumour immune microenvironment. This research evaluates the expression of RHEBL1 employing data from the Cancer Genome Atlas (TCGA) and Genotypic Tissue Expression (GTEx) databases. TCGA cohort was employed to identify the clinical characteristics and prognostic effect of RHEBL1. R Package clusterProfiler was employed to execute Gene Set enrichment analysis (GSEA) on RHEBL1. The association between RHEBL1 and immune cell infiltration (ICI) score was analyzed by employing TCGA samples copied from the public platform and TIMER2 database. Correlation analysis of IC50 values of 192 anti-cancer medicine copied from the Genomics of Drug Sensitivity in Cancer (GDSC) database. In the end, real-time fluorescence quantitative polymerase chain reaction (RT-qPCR) was employed to assessing RHEBL1 expression level in tumours and paracancerous tissues of colon cancer patients. It was found that the overall survival (OS), disease-specific survival (DSS), disease-free interval (DFI), and progression free interval (PFI) progression of colon adenocarcinoma (COAD) are highly related with high expression of RHEBL1 (p < 0.05). In addition, pathways related to immune regulation were closely involved in RHEBL1 expression. Furthermore, the levels of tumour-associated macrophage (TAM) and CD8 + T-cell infiltration were positively correlated with the expression of RHEBL1 in TCGA Pan-cancer samples. Patients with high RHEBL1 expression may be more sensitive to treatment with 5-FU, ABT737, Afuresertib, AGI-5198, AGI-6780, and Alisertib (p < 0.05) and could benefit from these chemotherapeutic agents. In vitro experimental results showed that RHEBL1 was significantly increased in COAD (p < 0.05). These findings indicate that RHEBL1 is an oncogene for multiple tumours and an important factor affecting tumour prognosis. Pan-cancer samples suggested that high RHEBL1 expression facilitates TAM infiltration and is correlated with tumour immunosuppressive status (TCGA). High expression of RHEBL1 may benefit from the therapy of 5-FU, ABT737, Afuresertib, AGI-5198, AGI-6780, and Alisertib. - Source: PubMed
Publication date: 2025/05/14
Chen YueFeng XiaoYin XindongYi NanZhao YaWang QianXing WenyaMa ChaoqunChen Dexuan - Glucocorticoid therapy has a beneficial effect in several diseases, but chronic treatment has adverse effects, including muscle atrophy, which refers to the gradual decrease in muscle mass, size and strength. It is important to know how the muscle atrophy occurs, but the underlying mechanism is not yet fully understood. This study shows that dexamethasone decreases levels of the transcriptional co-activator with PDZ binding motif (TAZ), which facilitates dexamethasone-induced muscle atrophy. - Source: PubMed
Kim Kyung MinOh Ho TaekDo YoujinYoo Gi DonHeo WoongPark JeekeonYang HyejinYoon Suh JinByun Mi RanHwang Eun SookHong Jeong-Ho