2024年12月24日 · DSC2 (Desmocollin 2) is a Protein Coding gene. Diseases associated with DSC2 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 and Arrhythmogenic Right Ventricular Cardiomyopathy. Among its related pathways are …

Desmocollin-2 is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. Three different posttranslational modifications (N -Glycosylations, O -Mannosylations and disulfide bridges) were present in the extracellular domain of …

The DSC2 gene provides instructions for making a protein called desmocollin-2. This protein is found in many tissues, although it appears to be particularly important in the heart muscle and skin. Desmocollin-2 is a major component of specialized structures called desmosomes.

DSC2 mutations are a cause of arrhythmogenic right ventricular cardiomyopathy in humans, physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function. Loss of Dsc2 protein is associated with colorectal cancer

桥粒糖连同桥粒芯糖蛋白是钙粘蛋白样跨膜糖蛋白，是桥粒的主要成分。 桥粒是有助于抵抗剪切力的细胞-细胞连接，在受到机械应力的细胞中含量很高。 该基因与 18 号染色体上的其他 desmocollin 家族成员一起被发现。 该基因的突变与致心律失常性右心室发育不良 11 有关，并且已经在几种类型的癌症中描述了蛋白质表达减少。 可变剪接导致多个转录本变体。 [RefSeq 提供，2015 年 2 月] This gene encodes a member of the desmocollin protein subfamily.

Gene target information for DSC2 - desmocollin 2 (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

2024年9月18日 · Clinical resource with information about DSC2, A genome-wide association study (GWAS) for bronchopulmonary dysplasia., Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11, and available tests.

Control and DSC2 patient‐derived pluripotent stem cells were reprogrammed and differentiated into cardiomyocytes (hiPSC‐CM) to examine the specific electromechanical phenotype and its modulation by antiarrhythmic drugs (AADs). Samples of the patient's heart and hiPSC‐CM were examined to identify molecular and cellular alterations.

2023年3月16日 · In the present study, we describe the pro-metastatic role of the desmosomal protein desmocollin 2 (DSC2) in breast cancer. Methods: We analysed the prognostic role of DSC2 at mRNA and protein level using microarray data, western blot analysis and immunohistochemistry.

2016年6月8日 · Recombinant-expressed mutant DSC2 in HEK293 and HeLa cells confirmed a stable, partially processed truncated protein with cytoplasmic and membrane localization. Mild palmoplantar hyperkeratosis was observed in only 1 of …