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This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
[中文简述(自动翻译):]  该基因编码的desmocollin蛋白亚家族的一个成员。 Desmocollins与desmogleins一起,是钙粘跨膜糖蛋白是桥粒的主要组件。桥粒是细胞间的连接处,可以帮助抵抗剪切力和高浓度被发现在受到机械应力细胞。该基因与其他desmocollin家族成员在染色体18在这个基因的突变与致心律失常性右心室发育不良-11相关联的簇被发现,并进一步降低了蛋白质表达已在几种类型的癌症进行了描述。选择性剪接结果在多个抄本变形。 [由RefSeq的,2015年2月提供]
DSC2基因(以及对应的蛋白质)的细胞分布位置:
DSC2基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 | 0.36 | 2 | 8 | CLINVAR_CTD_human_UNIPROT |
| Arrhythmogenic Right Ventricular Dysplasia | 0.138088254 | 16 | 2 | BeFree_CLINVAR_GAD_LHGDN |
| Cardiomyopathies | 0.123181358 | 4 | 13 | BeFree_CLINVAR_GAD |
| Cardiomyopathy, Dilated | 0.122367032 | 1 | 1 | CLINVAR_GAD |
| IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
| Colonic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Cardiac Arrhythmia | 0.002367032 | 1 | 0 | GAD |
| Sudden Cardiac Death | 0.002367032 | 1 | 0 | GAD |
| Neoplasm Metastasis | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
| Squamous cell carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
| Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Palmoplantar Keratosis | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
| Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
| Squamous cell carcinoma of esophagus | 0.000542884 | 2 | 0 | BeFree |
| Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
| Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Colitis | 0.000271442 | 1 | 0 | BeFree |
| Epidermolysis Bullosa | 0.000271442 | 1 | 0 | BeFree |
| Esophageal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Hypotrichosis | 0.000271442 | 1 | 0 | BeFree |
| Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Dermatologic disorders | 0.000271442 | 1 | 0 | BeFree |
| Skin Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Tachycardia | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Epithelial hyperplasia of skin | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of esophagus | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
| Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Ductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
| Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Ductal Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Dystonia 3, Torsion, X-Linked | 0.000271442 | 1 | 0 | BeFree |
| Cardiomyopathy, right ventricular | 0.000271442 | 1 | 0 | BeFree |
| Hypotrichosis And Recurrent Skin Vesicles | 0.000271442 | 1 | 0 | BeFree |
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