Ask about this productRelated genes to: SCN3B antibody
- Gene:
- SCN3B NIH gene
- Name:
- sodium voltage-gated channel beta subunit 3
- Previous symbol:
- -
- Synonyms:
- HSA243396
- Chromosome:
- 11q24.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-03-14
- Date modifiied:
- 2019-04-23
Related products to: SCN3B antibody
Related articles to: SCN3B antibody
- SCN3B encodes the β3 auxiliary subunit, essential for voltage-gated Na (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype-first approach, we identified homozygous truncating variants (c.281G>A-β3, c.584 + 1G>A-β3) in 2 consanguineous Pakistani families, leading to global developmental delay, intellectual disability and autism, with severe cognitive impairment, ataxia, and seizures in the case of β3. Electrophysiological analysis revealed subtype-specific gating alterations on multiple brain Nav channel subtypes. This is the first report linking SCN3B mutations to NDD, expanding our understanding of Nav channelopathies. ANN NEUROL 2025;98:864-870. - Source: PubMed
Publication date: 2025/08/23
Routledge NathanLammens MaximeMaroofian RezaBeland BakhtMurphy DavidMir AsifUllah ZiaAlvi Javeria RezaSultan TipuEfthymiou StephanieBosmans FrankHoulden Henry - Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) are a valuable cell type for studying human cardiac health and disease in vitro. However, it is not known whether hiPSC-CMs display sex dimorphism and therefore whether sex should be incorporated as a biological variable in in vitro studies that include this cell type. To date, the vast majority of studies that utilize hiPSC-CMs do not include both male and female sex nor stratify results based on sex because it is challenging to amass such a cohort of cells. Here, we generated 3 female and 3 male hiPSC lines from adult left ventricular cardiac fibroblasts as a resource for studying sex differences in in vitro cardiac models. We used this resource to generate hiPSC-CMs and maintained them in basal media without exogenous hormones. Functional assessment of CMs showed enhanced calcium handling in female-derived hiPSC-CMs relative to male. Bulk RNA sequencing revealed over 300 differentially expressed genes (DEGs) between male and female hiPSC-CMs. Gene ontology analysis of DEGs showed distinct differences in pathways related to cardiac pathology including cell-cell adhesion, metabolic processes, and response to ischemic stress. Differential expression of the sodium channel auxiliary unit SCN3B was found and validated through patch-clamp measurements of sodium currents, showing increased peak amplitude and window current in female hiPSC-CMs. These findings highlight the importance of considering sex as a variable when conducting studies to evaluate aspects of human cardiac health and disease related to CM function. - Source: PubMed
Givens Sophie EAndebrhan Abygail ASchmuck Eric GRenaud AimeeXie AnEbrahimi-Barough SomayehAbrahante Juan EStanis NoahDudley SamuelDutton James ROgle Brenda M - This study investigates gene expression differences in primary inferior oblique overaction (IOOA) by performing transcriptome sequencing on extraocular muscles (EOMs) from patients with primary and secondary IOOA. Strabismus, particularly IOOA, is often associated with abnormal eye movement due to imbalanced muscle function. By using bioinformatic analyses to identify differentially expressed genes (DEGs) and enriched pathways, we aim to uncover the molecular distinctions that may underlie the unique neuromuscular characteristics of primary IOOA. - Source: PubMed
Publication date: 2025/05/28
Hao RuiWang YuchuanZhang Wei - Endothelial cells (EC) play a pivotal role in vascular homeostasis. By sensing shear stress generated by blood flow, EC endorse vasculoprotection through mechanotransduction signaling pathways. Various ion channels are involved in mechanosignaling, and here, we investigated the endothelial voltage-gated Na channels (Na channels), since their mechanosensitivity has been previously demonstrated in cardiomyocytes. First, we showed that EC from aorta (TeloHAEC) behave as EC from umbilical vein (HUVEC) under laminar shear stress (LSS). For both EC models, cell alignment and elongation occurred with the activation of the KLF2/KLF4 atheroprotective signaling pathways. We found that LSS decreased the expression of SCN5A, encoding Na1.5, while LSS increased that of SCN3B, encoding Naβ3. We demonstrated that the KLF4 transcription factor is involved in SCN3B expression under both static and LSS conditions. Interestingly, SCN3B silencing impaired EC alignment induced by LSS. The characterization of Naβ3 interactome by coimmunoprecipitation and proteomic analysis revealed that mTOR, implicated in autophagy, binds to Naβ3. This result was evidenced by the colocalization between Naβ3 and mTOR inside cells. Moreover, we showed that SCN3B silencing led to the decrease in LC3B expression and the number of LC3B positive autophagosomes. Furthermore, we showed that Naβ3 is retained within the cell and colocalized with LAMP1 and LC3B. Finally, we found that resveratrol, a stimulating-autophagy and vasculoprotective molecule, induced KLF4 together with Naβ3 expression. Altogether, our findings highlight a novel role of Naβ3 in endothelial function and cell alignment as an actor in shear stress vasculoprotective intracellular pathway through autophagy modulation. - Source: PubMed
Réthoré LéaGuihot Anne-LaureGrimaud LindaProux CoralyneBarré BenjaminGuillonneau FrançoisGuette CatherineBoissard AliceHenry CécileCayon JérômePerrot RodolpheHenrion DanielLegros ChristianLegendre Claire - Voltage-gated sodium channels (VGSCs) initiate action potentials in nerve and muscle cells and are regulated by auxiliary β subunits. VGSC β subunits are also expressed in some cancer types, suggesting potential functions distinct from their role in electrophysiological excitability. This study investigated the occurrence and functional implications of the VGSC β3 subunit (the product of SCN3B gene) in glioma, focusing on the role of its extracellular immunoglobulin domain (β3 Ig). - Source: PubMed
Publication date: 2025/04/15
Liu HengruiHamaia Samir WDobson LisaWeng JielingHernández Federico LópezBeaudoin Christopher ASalvage Samantha CHuang Christopher L-HMachesky Laura MJackson Antony P