Arhgap42-KO 基因敲除小鼠

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产品名称

Arhgap42-KO 基因敲除小鼠

产品编号

S-KO-16306

品系全称

C57BL/6JCya-Arhgap42em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-71544-Arhgap42-B6J-VB

品系状态

使用本品系发表的文献需注明: Arhgap42-KO 基因敲除小鼠 mice (Strain S-KO-16306) 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
Rho GTPase activating protein 42
基因别称
9030420J04Rik
染色体号
Chr 9 (Mouse)
转录本 ID
NCBI: NM_027823 | Ensembl: ENSMUST00000093893
修饰方式
全身性基因敲除
靶向范围
Exon 5~7
敲除长度
~13.3 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:1918794Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility.
ARHGAP42,也称为Rho GTPase激活蛋白42,是GTPase Regulator Associated with Focal Adhesion Kinase (GRAF)家族的成员之一。ARHGAP42通过调节RhoA信号通路在多种生物学过程中发挥作用,包括细胞迁移、侵袭和血管张力控制。RhoA是一种小GTP酶,参与细胞骨架重塑、细胞粘附和信号转导等过程。ARHGAP42作为RhoA的特异性激活蛋白,通过催化RhoA的GTPase活性,降低RhoA的活性,从而影响这些生物学过程。

ARHGAP42在多种疾病中发挥重要作用。例如,ARHGAP42在高血压的发生发展中起着关键作用。研究表明,ARHGAP42在平滑肌细胞中特异性表达,通过抑制RhoA依赖的收缩,控制血管张力,进而影响血压水平。遗传学研究也发现,ARHGAP42基因的变异与高血压的发生风险相关[1,2,3]。此外,ARHGAP42在肿瘤的发生发展中也有重要作用。研究发现,ARHGAP42在鼻咽癌、肾细胞癌和黑色素瘤等多种肿瘤组织中表达上调,并且与肿瘤的侵袭、转移和不良预后相关[4,5,6,7,10]。进一步的研究表明,ARHGAP42通过PI3K/Akt信号通路、m6A修饰和长链非编码RNA等机制,促进肿瘤细胞的迁移和侵袭[4,7,8]。

除了在高血压和肿瘤中的作用,ARHGAP42还与一些其他疾病相关。例如,研究发现,ARHGAP42基因的变异与儿童间质性肺病、系统性高血压和免疫学异常相关[7]。此外,ARHGAP42还与肝细胞癌的进展相关,其在不同阶段的表达水平存在差异,并且与肿瘤的预后相关[9]。

综上所述,ARHGAP42作为一种重要的Rho GTPase激活蛋白,在多种生物学过程中发挥重要作用,包括细胞迁移、侵袭和血管张力控制。ARHGAP42在高血压和肿瘤的发生发展中起着关键作用,并且与一些其他疾病相关。对ARHGAP42的深入研究有助于深入理解其生物学功能和疾病发生机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. . 2015. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. In Science (New York, N.Y.), 348, 648-60. doi:10.1126/science.1262110. https://pubmed.ncbi.nlm.nih.gov/25954001/
2. Mangum, Kevin D, Freeman, Emily J, Magin, Justin C, Taylor, Joan M, Mack, Christopher P. 2019. Transcriptional and posttranscriptional regulation of the SMC-selective blood pressure-associated gene, ARHGAP42. In American journal of physiology. Heart and circulatory physiology, 318, H413-H424. doi:10.1152/ajpheart.00143.2019. https://pubmed.ncbi.nlm.nih.gov/31886719/
3. Fjorder, Amanda S, Rasmussen, Malene B, Mehrjouy, Mana M, Tommerup, Niels, Bache, Iben. 2019. Haploinsufficiency of ARHGAP42 is associated with hypertension. In European journal of human genetics : EJHG, 27, 1296-1303. doi:10.1038/s41431-019-0382-9. https://pubmed.ncbi.nlm.nih.gov/30903111/
4. Hu, Qian, Lin, Xiao, Ding, Linxiaoxiao, Xiang, Yanqun, Yao, Herui. 2018. ARHGAP42 promotes cell migration and invasion involving PI3K/Akt signaling pathway in nasopharyngeal carcinoma. In Cancer medicine, 7, 3862-3874. doi:10.1002/cam4.1552. https://pubmed.ncbi.nlm.nih.gov/29936709/
5. Betancor, Yoel Z, Ferreiro-Pantín, Miriam, Anido-Herranz, Urbano, López-López, Rafael, Ruiz-Bañobre, Juan. 2024. A three-gene expression score for predicting clinical benefit to anti-PD-1 blockade in advanced renal cell carcinoma. In Frontiers in immunology, 15, 1374728. doi:10.3389/fimmu.2024.1374728. https://pubmed.ncbi.nlm.nih.gov/38660294/
6. Bai, Xue, Mangum, Kevin D, Dee, Rachel A, Taylor, Joan M, Mack, Christopher P. 2017. Blood pressure-associated polymorphism controls ARHGAP42 expression via serum response factor DNA binding. In The Journal of clinical investigation, 127, 670-680. doi:10.1172/JCI88899. https://pubmed.ncbi.nlm.nih.gov/28112683/
7. Li, Qifei, Dibus, Michal, Casey, Alicia, Rosel, Daniel, Agrawal, Pankaj B. 2021. A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. In PLoS genetics, 17, e1009639. doi:10.1371/journal.pgen.1009639. https://pubmed.ncbi.nlm.nih.gov/34232960/
8. Zhang, Aiping, Wang, Lijian, Lei, Josh Haipeng, Miao, Kai, Deng, Chu-Xia. 2023. SB Digestor: a tailored driver gene identification tool for dissecting heterogeneous Sleeping Beauty transposon-induced tumors. In International journal of biological sciences, 19, 1764-1777. doi:10.7150/ijbs.81317. https://pubmed.ncbi.nlm.nih.gov/37063417/
9. Sarathi, Arjun, Palaniappan, Ashok. 2019. Novel significant stage-specific differentially expressed genes in hepatocellular carcinoma. In BMC cancer, 19, 663. doi:10.1186/s12885-019-5838-3. https://pubmed.ncbi.nlm.nih.gov/31277598/
10. Wang, Miaomiao, Zhou, Zhike, Wang, Yingying, Wang, Lixin. 2025. The gene-panel obtained by anti-PD-1 monotherapy for melanoma reveals prognostic markers and therapeutic targets. In Journal of chemotherapy (Florence, Italy), , 1-14. doi:10.1080/1120009X.2025.2465013. https://pubmed.ncbi.nlm.nih.gov/39948732/