Ask about this productRelated genes to: FSCN2 Blocking Peptide
- Gene:
- FSCN2 NIH gene
- Name:
- fascin actin-bundling protein 2, retinal
- Previous symbol:
- -
- Synonyms:
- RP30, RFSN
- Chromosome:
- 17q25.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-02-29
- Date modifiied:
- 2016-10-05
Related products to: FSCN2 Blocking Peptide
Related articles to: FSCN2 Blocking Peptide
- PRPF31 and FSCN2 are both recognized as causative genes of retinitis pigmentosa (RP). PRPF31 encodes an ubiquitously expressed splicing factor essential for pre-mRNA processing across all tissues, whereas FSCN2 encodes a protein responsible for actin cross-linking, playing a crucial role in the development of photoreceptor and retinal architecture. Despite their known roles, the retina-specific pathogenic mechanisms linking these genes remain incompletely understood. This study investigates how PRPF31 regulates FSCN2 expression and contributes to ciliary dysfunction in photoreceptors. PRPF31 haploinsufficiency was induced in 661W photoreceptor-like cells using RNA interference and the resulting phenotypic changes were rescued via FSCN2-Myc plasmid transfection. RNA immunoprecipitation (RIP) and IF were employed to assess PRPF31-FSCN2 interactions. Functional outcomes were evaluated via cell viability assays, RT-qPCR, Western blotting, and cilia quantification. Knockdown of PRPF31 significantly reduced cell viability and downregulated FSCN2, IFT88, and ARL13B expression. Notably, FSCN2 overexpression partially rescued the reduction in IFT88 and ARL13B expression and increased the number of cilia in PRPF31-silenced 661W cells. These findings suggest that PRPF31 modulates photoreceptor ciliary dysfunction via regulation of FSCN2 expression. This newly identified PRPF31-FSCN2 regulatory axis offers insight into the molecular basis of PRPF31-related RP and highlights FSCN2 as a potential therapeutic target. - Source: PubMed
Publication date: 2025/11/19
Lan YuanzhengChen YuhongLei YuanSun XinghuaiChen Xueli - Deletion of gene in mice has been linked to progressive hearing loss and degeneration of cochlear cells. Cisplatin, an antitumor drug, can cause various side effects, including ototoxicity. The aim of this study was to investigate the effects of on cisplatin-induced hearing impairment in mice and to explore the possible mechanism. - Source: PubMed
Publication date: 2024/10/19
Wang YanLiu YingyingXie YiLuan JunLiu RongrongZhu YongjiaMa YingFan YiSun YanShang WenjingHan Fengchan - The Fscn2 (Fascin2) gene encodes an actin cross-linking protein that is involved in the formation of hair cell stereocilia and retina structure. Mutations in Fscn2 gene have been linked to hearing impairment and retinal degeneration in humans and mice. To understand the function of the Fscn2 gene, we generated the Fscn2 knockout mice, which showed progressive loss of hearing and hair cells. Our goal of the present study was to investigate the mechanism underlying cochlear cell death in the Fscn2 knockout mice. Microarray analysis revealed upregulation of expression of PARVB, a local adhesion protein, in the inner ears of Fscn2 knockout mice at 8 weeks of age. Further studies showed increased levels of PARVB together with cleaved-Caspase9 and decreased levels of ILK, p-ILK, p-AKT, and Bcl-2 in the inner ears of Fscn2 knockout mice of the same age. Knockdown of Fscn2 in HEI-OCI cells led to decreased cell proliferation ability and migration rate, along with increased levels of PARVB and decreased levels of ILK, p-ILK, p-AKT, Bcl-2 and activated Rac1 and Cdc42. Overexpression of Fscn2 or inhibition of Parvb expression in HEI-OC1 cells promoted cell proliferation and migration, with increased levels of ILK, p-ILK, p-AKT, and Bcl-2. Finally, FSCN2 binds with PPAR-γ to reduce its nuclear translocation in HEI-OC1 cells, and inhibition of PPAR-γ by GW9662 decreased the level of PARVB and increased the levels of p-AKT, p-ILK, and Bcl-2. Our results suggest that FSCN2 negatively regulates PARVB expression by inhibiting the entry of PPAR-γ into the cell nucleus, resulting in inhibition of ILK-AKT related pathways and of cochlear cell survival in Fscn2 knockout mice. Our findings provide new insights and ideas for the prevention and treatment of genetic hearing loss. - Source: PubMed
Publication date: 2024/02/19
Liu RongrongShang WenjingLiu YingyingXie YiLuan JunZhang TingMa YingWang ZengxianSun YanSong XichengHan Fengchan - Age-related hearing loss (ARHL) is a significant health concern, and DBA/2J (D2) and C57BL/6 (B6) mouse strains serve as valuable models for its study. B6 mice, harboring a homozygous ahl allele in Cdh23, manifest high-frequency hearing loss at 3 months. In contrast, D2 mice, carrying the R109H variant of the Fascin-2 gene (Fscn2), experience early-onset hearing loss by 3 weeks. Yet, the underlying molecular mechanisms driving early-onset hearing loss in D2 mice remain elusive. This study aimed to identify novel genes and regulatory pathways as therapeutic targets for early deafness. - Source: PubMed
Publication date: 2023/12/14
Kuang XiaojingZhao WenbenWang QinSun ZehuaXu FuyiGeng RuishuangLi BoZheng TihuaZheng Qingyin - Fascin (FSCN) is an actin-binding protein that serves a critical role in cell migration and invasion, contributing to tumor metastasis. However, there is little known about the function of family in kidney renal clear cell carcinoma (KIRC). The present study used the UALCAN, gene expression profiling interactive analysis, The Cancer Genome Atlas, cBioPortal, STRING and The Tumor Immune Estimation Resource databases to investigate the transcription level, genetic alteration and biological function of FSCNs in KIRC and their association with the prognosis value and immune cell infiltration in patients with KIRC. Results showed that the expression of FSCN1 and FSCN3 was markedly upregulated in patients with KIRC, while the expression of FSCN2 showed an opposite trend, which was the same as the experiments. Furthermore, the expression levels of FSCNs were associated with pathological stage, molecular subtypes and tumor grade. The expression levels of FSCNs were statistically correlated with the immune cell infiltration in KIRC. Higher expression levels of FSCN1 and FSCN3 were associated with worse overall survival (OS) and progression-free interval of patients bearing KIRC. Univariate and multivariate analysis demonstrated that FSCN2 was an independent risk factor for OS time in KIRC. Furthermore, mutations in FSCNs were significantly associated with poor OS and progression-free survival in patients with KIRC. The FSCNs were involved in pathways including focal adhesion, endocytosis, hypertrophic cardiomyopathy, regulation of actin cytoskeleton. The results indicated that FSCN2 might serve as an independent prognostic factor for OS of KIRC and that FSCN1 and FSCN3 can be used as favorable biomarkers for predicting clinical outcomes in KIRC. - Source: PubMed
Publication date: 2023/07/20
Lin YongpingChen RuJiang MingHu BingZheng PingChen Guoxian