Ask about this productRelated genes to: Bnc1 antibody
- Gene:
- BNC1 NIH gene
- Name:
- basonuclin 1
- Previous symbol:
- BNC
- Synonyms:
- HsT19447
- Chromosome:
- 15q25.2
- Locus Type:
- gene with protein product
- Date approved:
- 1997-09-12
- Date modifiied:
- 2016-10-05
Related products to: Bnc1 antibody
Related articles to: Bnc1 antibody
- Premature ovarian insufficiency (POI) is a major cause of female infertility, and accumulating evidence indicates that genetic variants contribute to its pathogenesis. To further explore the genetic basis of POI, we performed a whole-exome sequencing among 121 women with POI and identified three rare heterozygous BNC1 gene variants, which include two missense variants, p.(Leu532Pro) and p.(Ser938Asn), and one truncating variant, p.(Arg15Profs*19). Basonuclin 1 (BNC1), a zinc finger transcription factor, has previously been associated with familial forms of POI, suggesting its important role in ovarian development and transcriptional regulation. Herein, we constructed wild-type (WT) and three mutant plasmids of BNC1 and performed RNA sequencing (RNA-seq) to characterize their functional consequences. Each BNC1 variant induced a distinct set of differentially expressed genes compared with the WT. Gene ontology enrichment analysis revealed that the p.(Leu532Pro) was associated with dysregulation of immune-related processes, p.(Ser938Asn) affected antiviral and innate immune responses, and truncating p.(Arg15Profs*19) altered reproductive and developmental pathways. Quantitative real-time polymerase chain reaction confirmed the differential expression of representative genes identified by RNA-seq. This study provides functional evidence that BNC1 variants contribute to POI through variant-specific molecular mechanisms, thereby providing further evidence to support BNC1 as a recurrent candidate gene in POI. - Source: PubMed
Publication date: 2026/03/13
Zheng ZhiChu ChunfangZhao MinyingSun YujunChen ShuyaLi YuxiaoHe LinXin MingweiLi Lin - Glioma, the most frequent primary intracranial tumor, is characterized by infiltrative growth in the central nervous system, pronounced invasiveness, high malignancy, and poor clinical prognosis. The existing treatment methods include surgery, radiotherapy and chemotherapy, but the efficacy is still limited. Analysis of The Cancer Genome Atlas (TCGA) dataset reveals marked downregulation of acid-sensing ion channel 2 (ASIC2) expression in glioma tissues, which significantly correlates with reduced patient survival. Moreover, ASIC2 expression is inversely associated with the extent of immune cell infiltration and glioma stem cell markers. Functional experiments demonstrate that both knockdown and overexpression of ASIC2 critically regulate glioma cell proliferation, invasion, and metastatic potential through mechanisms mediated by matrix metalloproteinase 2 (MMP2), calcineurin, and nuclear factor of activated T cells 1 (NFAT1) signaling pathways. These findings delineate a pivotal role for ASIC2 in governing glioma malignant behavior and establish its relevance as a potential molecular target for therapeutic intervention. - Source: PubMed
Publication date: 2026/01/28
Tian WenxiuWang YuWang ZhenmingPeng FujunSun JiayiQi HuiminZhang ZhaoruiWang PingQiao SenWang HongmeiDong Junhong - While variants in hundreds of genes have been linked to premature ovarian insufficiency (POI), monogenic disorders account for fewer than half of idiopathic POI cases in adolescents with 46,XX karyotype. This highlights the need for the further genetic investigation across diverse populations. - Source: PubMed
Publication date: 2025/11/27
Tsabai PolinaKumykova ZairaAverkova VictoriaPavlova NadezhdaMaslennikov DmitryBolshakova AnnaBatyrova ZalinaKolpakova TamaraBystritskiy AndreyKaretnikova NataliaEkimov AlexeyGoltsov AndreyKuznetsova MariaTurchinets AnnaMukosey IrinaKochetkova TaisiyaSadelov IgorShubina JekaterinaUvarova ElenaYureneva SvetlanaTrofimov DmitrySukhikh Gennady - The tumor microenvironment plays a critical role in the progression and metastasis of lung adenocarcinoma (LUAD), characterized by its immunosuppressive nature. Identifying the mechanisms that contribute to the remodeling of this environment is essential for developing therapeutic strategies. Heat shock factor 2-binding protein (HSF2BP) is implicated in tumor proliferation and immune evasion, but the mechanisms by which HSF2BP exerts these effects remain poorly understood. This study investigates the role of HSF2BP in modulating Basonuclin 1 (BNC1) expression and subsequent immune responses in LUAD. Matched tumor and adjacent normal tissue samples from 30 LUAD patients were collected between January 2023 and June 2024. Using lentiviral transduction, HSF2BP and BNC1 were overexpressed or knocked down in LUAD cell lines. Gene and protein expression were quantified by real-time quantitative polymerase chain reaction (RT-qPCR) and Western blotting. We analyzed the immunological profile of LUAD tumors and assessed the interaction between HSF2BP and the BNC1/Transforming Growth Factor Beta (TGF-β)/SMAD3 signaling pathway through in vitro and in vivo experiments. Immune profiling included flow cytometry for Natural Killer (NK) cells and ELISA for cytokine analysis (IL-2, IL-4, IL-10, INF-γ, and TNF-α). In vivo studies involved subcutaneous tumorigenesis in BALB/c nude mice. Immunohistochemistry and co-immunoprecipitation were used to validate protein interactions and to assess remodeling of the tumor immune microenvironment. HSF2BP expression was markedly higher in LUAD tissues in matched adjacent normal tissues, whereas BNC1 expression was significantly reduced. Overexpression of HSF2BP in LUAD cells (H1299) enhanced proliferation, reduced the proportion of NK cells, decreased levels of IFN-γ, IL-2, and TNF-α, and increased levels of IL-4 and IL-10. Conversely, knockdown of HSF2BP in A549 cells reduced proliferation and restored the proportion of NK cells and levels of pro-inflammatory cytokines. In vivo studies using HSF2BP-overexpressing mice confirmed these findings, demonstrating increased tumor volumes and altered cytokine profiles. Molecular assays revealed that HSF2BP binds directly to BNC1, with the C-terminal hydrophobic domain being essential for this interaction, thereby modulations in TGF-β and SMAD3 signaling pathways. HSF2BP significantly promotes LUAD progression by modulating the BNC1/TGF-β/SMAD3 signaling axis and reshaping the tumor immune microenvironment. Targeting the HSF2BP-BNC1 interaction can provide novel therapeutic strategies for enhancing immune responses against LUAD. - Source: PubMed
Publication date: 2025/10/13
Liu JunyuanHan ZhigangChen LijuanSun Gang - Transcription factor complexes integrate diverse signals into discrete physiological outputs and are often aberrantly regulated in malignancies such as squamous cell carcinoma (SCC). In this study, we sought to discover new transcriptional complexes essential for SCC tumor maintenance, which have catalytic activities that can be targeted to provide new therapeutic options for patients with SCC. Comparing expression patterns of SCC tumors with those of non-SCC tumors, we have identified basonuclin 1 as a highly expressed, SCC-specific transcription factor. Analysis of direct transcriptional targets has uncovered an essential role for basonuclin 1 in controlling the proliferation-differentiation-migration axis. Basonuclin 1 activates proliferation genes while repressing a FRA1-dependent promigratory program and IRF6-dependent differentiation program. In addition, basonuclin 1 physically interacts with PRMT1 (protein arginine methyltransferase 1) to activate cell cycle genes. Importantly, proliferation can be blocked in SCC tumors using PRMT1 inhibitors, which has no effect on the repression of promigratory genes. Given the diverse gene expression programs regulated by transcription factors, this work demonstrates that protumorigenic activities can be specifically targeted through the inhibition of cofactors without activating pathways that may lead to tumor progression. - Source: PubMed
Publication date: 2025/09/15
Boudra RafikPatenall Bethany LKing SandraCarter Kristyn AWang DianaBest Sarah AKo Joo YeonXu ShuyunFang RuiPadilla Maria GSchmults Chrysalyne DBarthel Steven RLian Christine GRamsey Matthew R