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This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的臂重复(犰狳)和plakophilin基因家族的一个成员。 Plakophilin蛋白含有众多犰狳重复序列,定位于细胞桥粒和核,并参与在细胞骨架连接钙粘到中间丝。这个基因的产物可调节β-连环蛋白的信号传导活性。两个编码两种蛋白异构体交替剪接的成绩单已经确定。具有高相似此基因座加工型假已映射到12p13染色体。 [由RefSeq的,2008年7月提供]
PKP2基因(以及对应的蛋白质)的细胞分布位置:
PKP2基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 | 0.36 | 3 | 39 | CLINVAR_CTD_human_UNIPROT |
| Arrhythmogenic Right Ventricular Dysplasia | 0.163220185 | 53 | 11 | BeFree_CLINVAR_GAD_LHGDN |
| Cardiomyopathies | 0.010725648 | 6 | 1 | BeFree_GAD_LHGDN |
| Cardiac Arrhythmia | 0.005091382 | 2 | 0 | GAD_LHGDN |
| Congenital Abnormality | 0.00272435 | 1 | 0 | LHGDN |
| Tachycardia, Ventricular | 0.002367032 | 1 | 0 | GAD |
| Sudden Cardiac Death | 0.002367032 | 1 | 0 | GAD |
| Brugada Syndrome (disorder) | 0.000814326 | 3 | 0 | BeFree |
| Heart Diseases | 0.000542884 | 2 | 0 | BeFree |
| Tachycardia | 0.000542884 | 2 | 0 | BeFree |
| Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cardiac Arrest | 0.000271442 | 1 | 0 | BeFree |
| Heart failure | 0.000271442 | 1 | 0 | BeFree |
| Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
| Soft Tissue Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Sustained ventricular tachycardia | 0.000271442 | 1 | 0 | BeFree |
| Channelopathies | 0.000271442 | 1 | 0 | BeFree |
| Naxos disease | 0.000271442 | 1 | 0 | BeFree |
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