Synj2-KO 基因敲除小鼠

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产品名称

Synj2-KO 基因敲除小鼠

产品编号

S-KO-17298

品系全称

C57BL/6JCya-Synj2em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-20975-Synj2-B6J-VB

品系状态

使用本品系发表的文献需注明: Synj2-KO 基因敲除小鼠 mice (Strain S-KO-17298) 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
synaptojanin 2
基因别称
SJ2,mKIAA0348
染色体号
Chr 17 (Mouse)
转录本 ID
NCBI: NM_001113353 | Ensembl: ENSMUST00000115791
修饰方式
全身性基因敲除
靶向范围
Exon 6~11
敲除长度
~8.7 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:1201671Homozygotes for an ENU-induced allele show progressive hearing loss and cochlear hair cell degeneration associated with fusion of stereocilia followed by total loss of hair bundles and cochlear ganglion degeneration. No vestibular dysfunction or other behavioral deficits are observed.
Synj2,也称为synaptojanin 2,是一种重要的5'-inositol lipid phosphatase,在细胞内多个生物学过程中发挥关键作用。Synj2的主要功能是参与调节细胞内信号的传递,包括细胞增殖、凋亡、迁移和侵袭等。Synj2通过去磷酸化细胞膜上的磷脂酰肌醇,影响细胞内信号的传递和细胞功能的调控。此外,Synj2还在神经递质的回收和再利用过程中发挥作用,参与神经递质囊泡的循环利用。

Synj2在多种肿瘤中表达异常,包括肺癌、肝癌、乳腺癌和甲状腺癌等。在肺癌中,Synj2的表达水平与患者的预后相关,高表达的Synj2预示着患者的不良预后[1]。在肝癌中,Synj2的表达水平与患者的预后和肿瘤的进展相关,高表达的Synj2预示着患者的不良预后[2]。在乳腺癌中,Synj2的扩增和过表达与患者的预后和肿瘤的转移相关,高表达的Synj2预示着患者的不良预后[3]。在甲状腺癌中,Synj2的表达水平与患者的预后和肿瘤的进展相关,高表达的Synj2预示着患者的不良预后[4]。

除了在肿瘤中的作用,Synj2还与年龄相关听力损失相关。研究显示,Synj2的罕见变异与年龄相关听力损失相关[5]。此外,Synj2还与阿尔茨海默病相关,Synj2与PI4KA的基因相互作用与大脑中侧脑室体积的变化相关[6]。此外,Synj2还与认知能力相关,Synj2的变异与老年人的认知能力和认知衰老相关[7]。此外,Synj2还与厌食症相关,Synj2的DNA甲基化水平与厌食症相关[8]。

综上所述,Synj2是一种重要的5'-inositol lipid phosphatase,在细胞内多个生物学过程中发挥关键作用。Synj2在多种肿瘤中表达异常,与患者的预后和肿瘤的进展相关。此外,Synj2还与年龄相关听力损失、阿尔茨海默病、认知能力和厌食症等相关。Synj2的研究有助于深入理解细胞内信号传递和肿瘤发生发展的机制,为肿瘤的治疗和预防提供新的思路和策略。

参考文献:
1. Hou, Wei, Li, Guo-Sheng, Gao, Li, Xia, Shuang, Wei, Hong-Yu. 2022. SYNJ2 is a novel and potential biomarker for the prediction and treatment of cancers: from lung squamous cell carcinoma to pan-cancer. In BMC medical genomics, 15, 114. doi:10.1186/s12920-022-01266-0. https://pubmed.ncbi.nlm.nih.gov/35581615/
2. Zhang, Rui, Mo, Wei-Jia, Huang, Lan-Shan, He, Wei-Ying, Feng, Zhen-Bo. . Identifying the Prognostic Risk Factors of Synaptojanin 2 and Its Underlying Perturbations Pathways in Hepatocellular Carcinoma. In Bioengineered, 12, 855-874. doi:10.1080/21655979.2021.1890399. https://pubmed.ncbi.nlm.nih.gov/33641617/
3. Ben-Chetrit, Nir, Chetrit, David, Russell, Roslin, Ehrlich, Marcelo, Yarden, Yosef. 2015. Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer. In Science signaling, 8, ra7. doi:10.1126/scisignal.2005537. https://pubmed.ncbi.nlm.nih.gov/25605973/
4. Yang, Yuan-Ping, Huang, Zhi-Guang, Luo, Jia-Yuan, Tang, Yi-Jun, Pang, Yu-Yan. 2024. Comprehensive transcriptome and scRNA-seq analyses uncover the expression and underlying mechanism of SYNJ2 in papillary thyroid carcinoma. In IET systems biology, 18, 183-198. doi:10.1049/syb2.12099. https://pubmed.ncbi.nlm.nih.gov/39370684/
5. Cornejo-Sanchez, Diana M, Li, Guangyou, Fabiha, Tabassum, DeWan, Andrew T, Leal, Suzanne M. 2023. Rare-variant association analysis reveals known and new age-related hearing loss genes. In European journal of human genetics : EJHG, 31, 638-647. doi:10.1038/s41431-023-01302-2. https://pubmed.ncbi.nlm.nih.gov/36788145/
6. Planchart, Antonio. 2013. Analysis of an intronic promoter within Synj2. In Biochemical and biophysical research communications, 440, 640-5. doi:10.1016/j.bbrc.2013.09.115. https://pubmed.ncbi.nlm.nih.gov/24103750/
7. Ning, Weiwei, Yang, Qingxu, Li, Zhengbiao, Xie, Ming. 2024. The activation of SYNJ2/GRB2 axis accelerates the malignant metastasis and angiogenesis of gastric cancer cells. In Molecular and cellular probes, 78, 101990. doi:10.1016/j.mcp.2024.101990. https://pubmed.ncbi.nlm.nih.gov/39521152/
8. Koran, Mary Ellen I, Hohman, Timothy J, Meda, Shashwath A, Thornton-Wells, Tricia A. . Genetic interactions within inositol-related pathways are associated with longitudinal changes in ventricle size. In Journal of Alzheimer's disease : JAD, 38, 145-54. doi:10.3233/JAD-130989. https://pubmed.ncbi.nlm.nih.gov/24077433/