2024年12月24日 · CASQ2 (Calsequestrin 2) is a Protein Coding gene. Diseases associated with CASQ2 include Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 and Catecholaminergic Polymorphic Ventricular Tachycardia. Among its related pathways are Cardiac conduction and Ion channel transport.

Two forms of calsequestrin have been identified. The cardiac form Calsequestrin-2 (CASQ2) is present in cardiac and slow skeletal muscle and the fast skeletal form Calsequestrin-1 (CASQ1) is found in fast skeletal muscle. The release of calsequestrin-bound calcium (through a calcium release channel) triggers muscle contraction.

CASQ1主要在快收缩骨骼肌表达，CASQ2这样在慢收缩骨骼肌和心肌表达。 CASQs是酸性糖蛋白类，占SR结合蛋白含量的27%，而RyR只要5%。 CASQ不仅与钙结合，还通过triadin a和 junctin与RyR相互作用，调节SR的钙释放。 有研究证明在没有triadin和 junctin的情况下，CASQ可以与RyR直接结合。 肌肉CASQ-RyR复合物在正常的钙信号转导中很关键。 CASQ抑制心脏和骨骼肌RyR通道，调节通道对肌浆网钙浓度变化的反应。 CASQ和RyR的相互作用由triadin a和 …

The CASQ2 gene provides instructions for making a protein called calsequestrin 2. This protein is found in heart (cardiac) muscle cells called myocytes, where it is involved in the storage and transport of positively charged calcium atoms (calcium ions).

2025年2月8日 · Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome. Calsequestrin 2 overexpression in breast cancer increases tumorigenesis and metastasis by modulating the tumor microenvironment.

Cardiac calsequestrin (Casq2) is thought to be the key sarcoplasmic reticulum (SR) Ca 2+ storage protein essential for SR Ca 2+ release in mammalian heart. Human CASQ2 mutations are associated with catecholaminergic ventricular tachycardia.

肌集钙蛋白2（calsequestrin2，Casq2）是肌浆网内的Ca 2+ 结合蛋白，具有储存并缓冲Ca 2+ 的作用，此外，其还可调节兰尼碱受体2（Ryanodine receptor2，RyR2）释放Ca 2+ 进入细胞质，在心室肌细胞的兴奋收缩耦联中发挥重要作用 [5, 6] 。本文主要综述Casq2的在室性心律失常 ...

Calsequestrin (Casq2) is a low affinity Ca (2+)-binding protein located in sarcoplasmic reticulum (SR) of cardiac myocytes. Casq2 acts as a Ca (2+) buffer regulating free Ca (2+) concentration in the SR lumen and plays a significant role in the regulation of Ca …

该基因的突变会导致应激诱发的多形性室性心动过速，也称为儿茶酚胺能多形性室性心动过速 2 (CPVT2) ，这是一种以双向室性心动过速为特征的疾病，可能导致心脏骤停。 [RefSeq 提供，2008 年 7 月] The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells.

2024年1月15日 · Calsequestrin 2 overexpression in breast cancer increases tumorigenesis and metastasis by modulating the tumor microenvironment. The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia.