Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
Department of Neurochemistry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
Cells. 2022 Jan 17;11(2):303. doi: 10.3390/cells11020303.
The Connector Enhancer of Kinase Suppressor of Ras-2 (CNKSR2), also known as CNK2 or MAGUIN, is a scaffolding molecule that contains functional protein binding domains: Sterile Alpha Motif (SAM) domain, Conserved Region in CNK (CRIC) domain, PSD-95/Dlg-A/ZO-1 (PDZ) domain, Pleckstrin Homology (PH) domain, and C-terminal PDZ binding motif. CNKSR2 interacts with different molecules, including RAF1, ARHGAP39, and CYTH2, and regulates the Mitogen-Activated Protein Kinase (MAPK) cascade and small GTPase signaling. CNKSR2 has been reported to control the development of dendrite and dendritic spines in primary neurons. CNKSR2 is encoded by the gene located in the X chromosome. is now considered as a causative gene of the Houge type of X-linked syndromic mental retardation (MRXHG), an X-linked Intellectual Disability (XLID) that exhibits delayed development, intellectual disability, early-onset seizures, language delay, attention deficit, and hyperactivity. In this review, we summarized molecular features, neuronal function, and neurodevelopmental disorder-related variations of .
连接激酶抑制蛋白 Ras-2 增强子（Connector Enhancer of Kinase Suppressor of Ras-2，CNKSR2），也称为 CNK2 或 MAGUIN，是一种支架分子，包含功能性蛋白质结合结构域：Sterile Alpha Motif（SAM）结构域、CNK 保守区（Conserved Region in CNK，CRIC）结构域、PDZ 结构域、Pleckstrin Homology（PH）结构域和 C 端 PDZ 结合基序。CNKSR2 与多种分子相互作用，包括 RAF1、ARHGAP39 和 CYTH2，并调节丝裂原激活蛋白激酶（Mitogen-Activated Protein Kinase，MAPK）级联和小 GTPase 信号转导。已有报道称，CNKSR2 可控制原代神经元中树突和树突棘的发育。CNKSR2 由位于 X 染色体上的 基因编码。该基因现已被认为是 Houge 型 X 连锁综合征性智力障碍（X-linked syndromic mental retardation，MRXHG）的致病基因之一，这是一种 X 连锁智力障碍（X-linked Intellectual Disability，XLID），表现为发育迟缓、智力障碍、早发性癫痫、语言发育迟缓、注意力缺陷和多动。在这篇综述中，我们总结了 的分子特征、神经元功能和与神经发育障碍相关的变异。
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