🧬 基因注释：PKP2

官方名称：plakophilin 2

功能摘要：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 may regulate the signaling activity of beta-catenin and is required to maintain transcription of genes that control intracellular calcium cycling including ryanodine receptor 2, ankyrin-B, triadin, and calcium channel, voltage-dependent, L type, alpha 1C. Mutations in this gene are associated with different inherited cardiac conditions including Arrythmogenic Cardiomyopathy, Brugada Syndrome, and Idiopathic Ventricular Fibrillation. A processed pseudogene with high similarity to this gene has been mapped to chromosome 12p13. [provided by RefSeq, May 2022].

• HNRNPC 综合评分: 0.412 · 证据 2 条
• Tardbp 综合评分: 0.364 · 证据 1 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• Srsf3 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• PCBP2 综合评分: 0.298 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• TIA1 综合评分: 0.250 · 证据 1 条
• CSTF2 综合评分: 0.248 · 证据 2 条
• U2af2 综合评分: 0.224 · 证据 1 条
• GRSF1 综合评分: 0.212 · 证据 2 条
• PRPF8 综合评分: 0.200 · 证据 1 条
• Rnps1 综合评分: 0.162 · 证据 1 条
• AQR 综合评分: 0.150 · 证据 1 条
• CPSF7 综合评分: 0.150 · 证据 2 条

该基因暂无关联疾病记录