Ask about this productRelated genes to: NOVA2 Blocking Peptide
- Gene:
- NOVA2 NIH gene
- Name:
- NOVA alternative splicing regulator 2
- Previous symbol:
- NOVA3
- Synonyms:
- ANOVA
- Chromosome:
- 19q13.32
- Locus Type:
- gene with protein product
- Date approved:
- 1998-01-16
- Date modifiied:
- 2016-05-03
Related products to: NOVA2 Blocking Peptide
Related articles to: NOVA2 Blocking Peptide
- Metastasis remains the primary cause of mortality in lung adenocarcinoma (LUAD) patients. However, the molecular mechanisms underlying LUAD cell metastasis are only partially elucidated. Here, by performing integrated bioinformatic analysis of clinical data, RNA-binding protein (RBP) NOVA2 is identified as a pivotal LUAD metastasis-associated regulator. NOVA2 expression is elevated in metastatic LUAD tissues and correlates with poor prognosis of LUAD patients. Functionally, NOVA2 depletion suppresses epithelial-mesenchymal transition (EMT), migration, and invasion in vitro, and attenuates LUAD cell metastasis in vivo. Mechanistically, histone acetyltransferase p300 augments H3K27 acetylation level and facilitates the binding of STAT3 to the NOVA2 promoter, which in turn promotes NOVA2 transcription. Increased NOVA2 expression induces exon skipping (exons 6-7) in SMAD4 to generate a truncated splicing isoform (termed Δ-SMAD4). The resulting Δ-SMAD4 isoform evades E3 ubiquitin ligase β-TrCP-mediated ubiquitination, maintaining its ability to form complex with SMAD3 (R-SMAD) and sustain TGF-β/SMAD signaling. Moreover, in NOVA2-overexpressing LUAD cells, Δ-SMAD4 knockdown has stronger inhibitory effects on TGF-β-induced EMT and invasion than does SMAD4 knockdown. In summary, our findings identify a novel mechanism by which STAT3-mediated transcriptional upregulation of NOVA2 promotes SMAD4 splicing in metastatic LUAD, and suggest that the STAT3-NOVA2-Δ-SMAD4 axis drives EMT and LUAD metastasis, which may be a promising therapeutic target for treating LUAD. - Source: PubMed
Publication date: 2026/04/01
Wang ShengjieTong XinSun RunfengXia XinyiChen DonglaiWang ZhaoShi HaoWu ChenzhuoGuo XiaoxiaoHu DieJin ErsuoZhang Hong-Tao - Voltage-gated sodium channels (VGSCs) are fundamental to electrical signalling in excitable cells, and their dysfunction underlies a wide range of channelopathies. While the existence of nine distinct α-subunit genes contributes to VGSC diversity, alternative splicing serves as a significant post-transcriptional mechanism that profoundly expands their proteomic and functional repertoire. Dysregulation of this splicing process is increasingly linked to disease pathogenesis. - Source: PubMed
Publication date: 2026/03/23
Qiu JiayingWu PeiZhang YalinLi YiqingXia ChunliPeng SiwanSun Junjie - Onset of many neurodegenerative and neuromuscular diseases usually starts in adulthood; however, recent advances point towards neurodevelopmental changes as drivers of late neurodegeneration. How early neuropathological features occur under these conditions remains unclear, but this knowledge would be critical for timely therapeutic intervention. Here, we provide evidence that neurodevelopmental axonal defects initiate a motor phenotype in a zebrafish model of spinocerebellar ataxia type 37 (SCA37), a degenerative hereditary disease caused by an ATTTC repeat in the DAB1 gene. We investigated neuronal defects triggered by the embryonic AUUUC repeat RNA from the DAB1 gene and their effects later in life by transiently expressing this RNA in embryos and analyzing innervation and motor function. We found abnormalities in motor neuron axonal outgrowth and muscle innervation. We also discovered disrupted embryonic motor activity, and reduced locomotor distance and velocity in late adult zebrafish, demonstrating motor impairment. Moreover, we showed that protein expression of the splicing regulator NOVA2 rescues axonal defects, indicating dysfunction of NOVA2-regulated neurodevelopmental processes. Overall, our results establish embryonic expression of the AUUUC repeat RNA as a driver of axonal and synaptic abnormalities, interfering with neuronal circuits and culminating in adult motor dysfunction. - Source: PubMed
Publication date: 2026/04/30
Castro Ana FFigueiredo Ana SLoureiro Joana RAzevedo Maria MSampaio PaulaValentim Ana MBessa JoséSilveira Isabel - Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant neurological disease characterized by cortical myoclonic tremor and epileptic seizures. The proposed pathogenic (TTTCA) pentanucleotide repeat expansion (exp) insertion, flanking the polymorphic (TTTTA)exp, has been reported in seven distinct FCMTE causative genes/loci, and a repeat motif-specific phenotype correlation is claimed. However, the pathogenic mechanism of FCMTE is still poorly understood. - Source: PubMed
Publication date: 2026/03/18
Zhang FanChen YilingChen ShuqiXia HaibinZhang YiyingChen XinhuiWang BoJi JunfengCen ZhidongLuo Wei - : Consanguine families are helpful to identify recessive candidate genes for inherited diseases, but can also show an unusual inheritance pattern of pathogenic mutations. In this case series, we demonstrate this in five consanguine families with epilepsy from Pakistan. : We performed whole exome sequencing of respective index patients, analyzed the data using two different models for inheritance of mutations and determined the segregation pattern of relevant mutations in the families by bi-directional Sanger sequencing. : Apart from mutations in classical dominant epilepsy genes (, , and ), pathogenic mutations in rare recessive epilepsy-related genes (, , and ) were also identified. Interestingly, we were able to provide evidence that is potentially an additional gene associated with a recessive form of epilepsy. In one family, a homozygous 'pathogenic' p. Gly387* nonsense mutation was identified, which, most probably due to stop-codon read-through, did not contribute to the phenotype. : Our case series of consanguine families with epilepsy exemplifies the inheritance pattern of mutations in rare recessive epilepsy genes, and shows that mutations in classical epilepsy genes showing dominant or sporadic inheritance can also be relevant. That requires the analysis of whole exome data on the basis of different inheritance models. - Source: PubMed
Publication date: 2026/01/29
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