Ask about this productRelated genes to: THOC6 Blocking Peptide
- Gene:
- THOC6 NIH gene
- Name:
- THO complex 6
- Previous symbol:
- WDR58
- Synonyms:
- MGC2655, fSAP35
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-04-07
- Date modifiied:
- 2015-03-30
Related products to: THOC6 Blocking Peptide
Related articles to: THOC6 Blocking Peptide
- The THOC6 protein is an essential part of the THO complex. Biallelic loss-of-function variants in the THOC6 gene are linked to Beaulieu-Boycott-Innes syndrome (BBIS; OMIM #613680). Although research predominantly focuses on THOC6's involvement in neurodevelopmental disorders, approximately 80% of BBIS patients present with cardiac anomalies, including structural heart disease, cardiomyopathy, and arrhythmia. Despite this, the connection between THOC6 expression and cardiac development remains underexplored. This study firstly investigates THOC6's role in heart development. - Source: PubMed
Publication date: 2026/04/11
Yuan WeihuaJiang ZiyiLi FengxiaChen HongyuZhang XichengFan Xiangming - Lung adenocarcinoma (LUAD) remains a leading cause of cancer-related mortality worldwide. Although the transcription-export (TREX) complex plays a central role in RNA maturation and nuclear export, the clinical and biological relevance of individual THO Complex Subunit (including THOC1, THOC2, THOC3, THOC5, THOC6, and THOC7) in LUAD is not well defined. We performed integrative analyses combining bulk transcriptomics from TCGA/GTEx and independent GEO cohorts, survival modeling, DNA methylation profiling, protein-level annotation from public resources, protein-protein interaction network analysis, immune infiltration estimation (TIMER), and single-cell RNA sequencing (scRNA-seq) to evaluate the relevance of THOC3 and THOC7 in LUAD. Across TCGA and external GEO validation datasets, THOC3 and THOC7 were consistently upregulated in LUAD and associated with poorer overall and disease-free survival, whereas other THO complex members showed weaker or inconsistent associations. Given these comparatively consistent and reproducible signals, we therefore prioritized THOC3 and THOC7 for downstream multi-layer analyses. Epigenetic profiling and interaction network analyses placed both genes within conserved RNA processing and export programs linked to genome maintenance pathways. Single-cell transcriptomic analysis provided additional resolution, demonstrating predominant enrichment of THOC3 and THOC7 in malignant epithelial clusters, with THOC3 aligning with transcriptional programs associated with DNA replication and repair, and THOC7 with proliferative and checkpoint-related states. Notably, expression of both genes was also detectable in myeloid and neutrophil subsets, and THOC7 expression remained elevated in recurrent LUAD samples, indicating association with aggressive and treatment-resistant disease states. Collectively, by integrating bulk, single-cell, epigenetic, and immune profiling across multiple independent cohorts, this study identifies THOC3 and THOC7 as reproducible molecular correlates of aggressive LUAD phenotypes. These highlight dysregulated RNA export programs as potential biomarkers of poor prognosis and motivate future functional studies to assess RNA export dependencies in LUAD. - Source: PubMed
Publication date: 2026/03/09
Kumar SachinWu Chung-CheSolomon Dahlak DanielYen Meng-ChiYeh I-JengKo Ching-ChungXuan Do Thi MinhChang Kai-FuLin Hui-RuLin Hung-YunShih Chia-LungChen Jian-BinLee Wei-YiWang Chih-YangLee Yung-KuoNguyen Ngoc Uyen Nhi - Beaulieu-Boycott-Innes syndrome (BBIS) is a rare autosomal recessive neurodevelopmental disorder caused by THOC6 gene mutations. While BBIS typically presents with intellectual disability, dysmorphic features, and congenital anomalies, its association with ambiguous genitalia and disorders of sexual development has not been previously reported. Expanding the phenotypic spectrum is crucial for early diagnosis and management. - Source: PubMed
Humeedat MousaJabareen MaaweyaMaraqa BaraaSarahneh HuseinManasra Nedal - The genomic information is insulated in the nucleus of all eukaryotic cells. Error-free transcription needs to be followed by an efficient export of the messenger RNAs (mRNA) to facilitate the regulated synthesis of proteins for carrying out cellular functions. The functionally conserved Transcription-Export (TREX) complex is a key player in mediating mRNA export from the nucleus to the cytoplasm, along with RNA processing steps including 3'-end processing, 5' capping, transcriptional regulation, R-loop resolution, and splicing. TREX, a multifunctional complex, has important roles in stress response, mitotic progression, embryonic stem cell self-renewal and differentiation, and maintaining genome stability. Most of these processes are essential for the appropriate development and function of the brain. Consistent with this notion, partial loss of function variants in the TREX components THOC2, THOC6, and DDX39B were implicated in neurodevelopmental disorders. Furthermore, a growing body of evidence also highlighted the involvement of defective nucleocytoplasmic RNA transport in the development of neurodegenerative diseases. Overall, the TREX complex is emerging as a crucial player in neurological diseases, making it a critical target for both diagnosis and therapeutic intervention. - Source: PubMed
Publication date: 2025/07/11
Bhattacharjee RudrarupAgarwala ShreyaMazurkiewicz DanielleGecz JozefKumar Raman - The delicate balance between bone formation by osteoblasts and bone resorption by osteoclasts maintains bone homeostasis. Nuclear receptors (NRs) are now understood to be crucial in bone physiology and pathology. However, the function of the Farnesoid X receptor (FXR), a member of the NR family, in regulating bone homeostasis remains incompletely understood. In this study, in vitro and in vivo models revealed delayed bone development and an osteoporosis phenotype in mice lacking FXR in bone marrow mesenchymal stem cells (BMSCs) and osteoblasts due to impaired osteoblast differentiation. Mechanistically, FXR could stabilize RUNX2 by inhibiting Thoc6-mediated ubiquitination, thereby promoting osteogenic activity in BMSCs. Moreover, activated FXR could directly bind to the Thoc6 promoter, suppressing its expression. The interaction between RUNX2 and Thoc6 was mediated by the Runt domain of RUNX2 and the WD repeat of Thoc6. Additionally, Obeticholic acid (OCA), an orally available FXR agonist, could ameliorate bone loss in an ovariectomy (OVX)-induced osteoporotic mouse model. Taken together, our findings suggest that FXR plays pivotal roles in osteoblast differentiation by regulating RUNX2 stability and that targeting FXR may be a promising therapeutic approach for osteoporosis. - Source: PubMed
Publication date: 2025/01/30
Dong QiFu HaoyuanLi WenxiaoJi XinyuYin YingchaoZhang YiranZhu YanboLi GuoqiangJia HuiyangZhang HengWang HaofeiHu JinglueWang GanggangWu ZhihaoZhang YingzeXu SujuanHou Zhiyong