Table 1.
Genes with mutations associated with DCM in humans.
| Gene | Location/role | Reference |
|---|---|---|
| ABCC9 | Calcium/sodium-handling | [81] |
| ACTC1 | Sarcomere & cytoskeleton | [82] |
| ACTN2 | Sarcomere & cytoskeleton | [83] |
| ANKRD1 | Sarcomere & transcription factor | [84] |
| BAG3 | Sarcomere | [85–87] |
| CAV3 | Other | [88] |
| CHRM2 | Other | [89] |
| CRYAB | Cytoskeleton | [90] |
| CSRP3 | Sarcomere & cytoskeleton | [83] |
| CTF1 | Other | [91] |
| DES | Cytoskeleton | [92, 93] |
| DMD | Cytoskeleton | [94, 95] |
| DNAJC19 | Other | [96] |
| DOLK | Other | [97] |
| DSC2 | Desmosome | [98] |
| DSG2 | Desmosome | [99] |
| DSP | Desmosome | [100] |
| EYA4 | Other | [101] |
| FHL2 | Sarcomere & cytoskeleton | [102] |
| FKTN | Cytoskeleton | [103] |
| FKRP | Cytoskeleton | [104] |
| FOXD4 | Transcription factor | [105] |
| GATAD1 | Other | [106] |
| HCG22 | Other | [107] |
| HLA-DQB1 | Other | [108] |
| HSPB7 | Other | [109] |
| ILK | Cytoskeleton | [110] |
| LAMA2 | Other | [111] |
| LAMA4 | Cytoskeleton | [110] |
| LAMP2 | Other | [112] |
| LDB3 | Sarcomere & cytoskeleton | [113] |
| LMNA | Nuclear envelope | [114] |
| MURC | Other | [115] |
| MYBPC3 | Sarcomere | [116, 117] |
| MYH6 | Sarcomere | [117, 118] |
| MYH7 | Sarcomere | [116] |
| MYPN | Cytoskeleton | [119] |
| NEBL | Sarcomere | [120] |
| NEXN | Sarcomere | [121] |
| NOS3 | Other | [122] |
| PKP2 | Desmosome | [98] |
| PLN | Calcium/sodium-handling | [123] |
| PRDM16 | Transcription factor | [124] |
| PSEN1 | Other | [125] |
| PSEN2 | Other | [125] |
| RBM20 | Other | [126] |
| RYR2 | Calcium/sodium-handling | [127] |
| SCN5A | Calcium/sodium-handling | [128] |
| SDHA | Other | [129] |
| SGCD | Cytoskeleton | [130] |
| SYNE1 | Nuclear envelope | [131] |
| TAZ | Other | [132] |
| TBX20 | Transcription factor | [133] |
| TCAP | Sarcomere & cytoskeleton | [134] |
| TMPO | Nuclear envelope | [135] |
| TNNC1 | Sarcomere | [117] |
| TNNI3 | Sarcomere | [136] |
| TNNT2 | Sarcomere | [137] |
| TPM1 | Sarcomere | [117] |
| TXNRD2 | Other | [138] |
| TTN | Sarcomere & cytoskeleton | [139] |
| VCL | Sarcomere & cytoskeleton | [140] |
| ZBTB17 | Other | [141] |