Ranbp2-KO 基因敲除小鼠

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产品名称

Ranbp2-KO 基因敲除小鼠

产品编号

S-KO-04009

品系全称

C57BL/6JCya-Ranbp2em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-19386-Ranbp2-B6J-VA

品系状态

使用本品系发表的文献需注明: Ranbp2-KO 基因敲除小鼠 mice (Strain S-KO-04009) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量

基本信息

基因研究概述

质控标准

基因
基因全称
RAN binding protein 2
基因别称
A430087B05Rik,NUP358
染色体号
Chr 10 (Mouse)
转录本 ID
NCBI: NM_011240 | Ensembl: ENSMUST00000003310
修饰方式
全身性基因敲除
靶向范围
Exon 3
敲除长度
~0.9 kb
品系说明
该品系是基于策略设计时的数据库信息制作而成,建议您在购买前查询最新的数据库和相关文献,以获取最准确的表型信息。
表型提示
MGI:894323Mice homozygous for a knock-out allele show abnormal morula morphology and complete embryonic lethality before implantation, with failure of blastocyst formation in in-vitro outgrowth assays. Mice homozygous for a gene trap allele are embryonic lethal, while heterozygotes display reduced ATP levels in the CNS, decreased glucose clearance, decreased susceptibility to diet-induced obesity, and reduced scotopic responses on some backgrounds .
RANBP2,也称为Ran-binding protein 2或Nup358,是一种核孔蛋白,是核孔复合物的重要组成成分。核孔复合物是细胞核膜上的一种大型蛋白质复合物,负责调控细胞核与细胞质之间的物质交换。RANBP2在多种细胞过程中发挥着关键作用,包括核质转运、细胞分裂、DNA复制和基因表达调控等。RANBP2具有多个功能区域,包括SUMOylation、Ran-GTPase循环和细胞周期调控等。RANBP2的突变或表达异常与多种人类疾病相关,包括急性坏死性脑炎、癌症、神经退行性疾病和病毒感染等。

RANBP2基因位于人类染色体2q上的一个高度动态的区域,具有高结构变异和重组事件。在猿类进化过程中,RANBP2基因家族经历了一系列的基因丢失和复制事件,形成了RANBP2和GCC2蛋白结构域(RGPD)基因家族。RGPD基因家族在进化过程中保持高度同源性和保守性,提示它们可能为其宿主提供了某种优势,但它们的详细功能仍然未知和研究不足。

RANBP2基因的突变或表达异常与多种人类疾病相关。例如,RANBP2基因的突变与急性坏死性脑炎1型(ANE1)相关,这是一种罕见的遗传性疾病,患者在病毒感染后会出现严重的炎症反应和神经系统症状。此外,RANBP2基因的突变也与多种癌症相关,包括胶质瘤和Wilms瘤等。研究发现,RANBP2基因的突变会影响其与COX11等蛋白质的相互作用,导致线粒体功能障碍和ATP产生减少,从而引发细胞损伤和疾病发生。

除了基因突变外,RANBP2基因的表达水平也与其相关疾病的发生和发展密切相关。例如,研究发现RANBP2基因的表达水平与急性坏死性脑炎的严重程度和预后相关。此外,RANBP2基因的表达水平也与多种癌症的发生和发展相关,包括胶质瘤、Wilms瘤和炎症性肌纤维母细胞瘤等。

综上所述,RANBP2是一种重要的核孔蛋白,在多种细胞过程中发挥着关键作用。RANBP2基因的突变或表达异常与多种人类疾病相关,包括急性坏死性脑炎、癌症、神经退行性疾病和病毒感染等。RANBP2的研究有助于深入理解核孔复合物的功能和相关疾病的发病机制,为疾病的治疗和预防提供新的思路和策略[1][2][3][4][5][6][7][8][9][10]。

参考文献:
1. Desgraupes, Sophie, Etienne, Lucie, Arhel, Nathalie J. 2023. RANBP2 evolution and human disease. In FEBS letters, 597, 2519-2533. doi:10.1002/1873-3468.14749. https://pubmed.ncbi.nlm.nih.gov/37795679/
2. Qin, Ningxiang, Wang, Jing, Peng, Xi, Wang, Liang. 2023. Pathogenesis and Management of Acute Necrotizing Encephalopathy. In Expert review of neurotherapeutics, 23, 641-650. doi:10.1080/14737175.2023.2224503. https://pubmed.ncbi.nlm.nih.gov/37309119/
3. Lin, Qianru, Chen, Wei, Tan, Jiating, Huang, Xiaokai, Zhou, Haixia. . Association of RAN and RANBP2 Gene Polymorphisms With Glioma Susceptibility in Chinese Children. In Cancer reports (Hoboken, N.J.), 7, e2136. doi:10.1002/cnr2.2136. https://pubmed.ncbi.nlm.nih.gov/39041645/
4. Jiang, Jing, Wang, Yifan E, Palazzo, Alexander F, Shen, Qingtang. 2022. Roles of Nucleoporin RanBP2/Nup358 in Acute Necrotizing Encephalopathy Type 1 (ANE1) and Viral Infection. In International journal of molecular sciences, 23, . doi:10.3390/ijms23073548. https://pubmed.ncbi.nlm.nih.gov/35408907/
5. Huang, Xiaokai, Zhao, Jie, Fu, Wen, He, Jing, Zhou, Haixia. 2020. The association of RAN and RANBP2 gene polymerphisms with Wilms tumor risk in Chinese children. In Journal of Cancer, 11, 804-809. doi:10.7150/jca.36651. https://pubmed.ncbi.nlm.nih.gov/31949483/
6. Li, Jian, Yin, Wei-hua, Takeuchi, Kengo, Huang, Yu-hua, Chan, John K C. 2013. Inflammatory myofibroblastic tumor with RANBP2 and ALK gene rearrangement: a report of two cases and literature review. In Diagnostic pathology, 8, 147. doi:10.1186/1746-1596-8-147. https://pubmed.ncbi.nlm.nih.gov/24034896/
7. Fauser, S, Aslanukov, A, Roepman, R, Ferreira, P A. . Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene. In Mammalian genome : official journal of the International Mammalian Genome Society, 12, 406-15. doi:. https://pubmed.ncbi.nlm.nih.gov/11353387/
8. Zhang, Xiaomei, Ge, Lihao, Jin, Guanghui, Li, Wei, Ou, Jingxing. 2024. Cold-induced FOXO1 nuclear transport aids cold survival and tissue storage. In Nature communications, 15, 2859. doi:10.1038/s41467-024-47095-w. https://pubmed.ncbi.nlm.nih.gov/38570500/
9. Shibata, Akiko, Kasai, Mariko, Hoshino, Ai, Tanaka, Teruyuki, Mizuguchi, Masashi. 2021. RANBP2 mutation causing autosomal dominant acute necrotizing encephalopathy attenuates its interaction with COX11. In Neuroscience letters, 763, 136173. doi:10.1016/j.neulet.2021.136173. https://pubmed.ncbi.nlm.nih.gov/34400285/
10. Levine, Jesse M, Ahsan, Nusrat, Ho, Eugenia, Santoro, Jonathan D. 2020. Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics. In Multiple sclerosis and related disorders, 43, 102194. doi:10.1016/j.msard.2020.102194. https://pubmed.ncbi.nlm.nih.gov/32426208/