Table 2.
Genes associated with various forms of dilated cardiomyopathies
| Gene | OMIM gene | Disease | OMIM disease | Inheritance | Function |
| LMNA | 150330 | CMD1A | 115200 | AD | Required for cardiac homeostasis |
| MYH7 | 160760 | CMD1S | 613426 | AD | Beta heavy chain subunit of cardiac myosin |
| MYH6 | 160710 | CMD1EE | 613252 | AD | Alpha heavy chain subunit of cardiac myosin. |
| SCN5A | 600163 | CMD1E | 601154 | AD | Mediates voltage-dependent Na+ permeability of excitable membranes |
| ACTN2 | 102573 | CMD1AA with/without LVNC | 612158 | AD | Localized in the Z-disc of cardiac muscle where it anchors myofibrillar actin filaments |
| DSG2 | 125671 | CMD1BB | 612877 | AD | Ca2+-binding transmembrane glycoprotein component of desmosomes between myocardial cells |
| LDB3 | 605906 | CMD1C with/ without LVNC | 601493 | AD | Adaptor protein in striated muscle; couples protein kinase C-mediated signaling to cytoskeleton |
| TNNT2 | 191045 | CMD1D | 601494 | AD | Ca2+-dependent regulator of muscle contraction |
| RBM20 | 613171 | CMD1DD | 613172 | AD | RNA-binding protein that regulates mRNA splicing of genes involved in heart development, such as TTN |
| TTN | 188840 | CMD1G | 604145 | AD | Important for striated muscle assembly and function, connects microfilaments, contributes to balance of forces between two halves of sarcomere |
| BAG3 | 603883 | CMD1HH | 613881 | AD | Co-chaperone for HSP70 and HSC70 chaperone proteins in heart; triggers client/substrate protein release |
| DES | 125660 | CMD1I | 604765 | AD | Sarcomeric microtubule-anchoring protein that maintains sarcomere structure |
| CRYAB | 123590 | CMD1II | 615184 | AD | Has chaperone-like activity, preventing aggregation of proteins under stress conditions |
| EYA4 | 603550 | CMD1J | 605362 | AD | Transcriptional regulator during organogenesis |
| LAMA4 | 600133 | CMD1JJ | 615235 | AD | Mediates attachment, migration and organization of cells into tissues during embryo development by interacting with other extracellular matrix components |
| MYPN | 608517 | CMD1KK | 615248 | AD | Component of heart muscle sarcomere linking nebulette to alpha-actinin in Z lines |
| SGCD | 601411 | CMD1L | 606685 | AD | Component of sarcoglycan complex linking F-actin cytoskeleton and extracellular matrix |
| CSRP3 | 600824 | CMD1M | 607482 | AD | Positive regulator of myogenesis; transcription cofactor for myogenic bHLH transcription factors |
| ABCC9 | 601439 | CMD1O | 608569 | AD | Activates and regulates cardiac and smooth muscle- type KATP channels |
| PLN | 172405 | CMD1P | 609909 | AD | Modulates contractility of heart muscle in response to physiological stimuli via ATP2A2; regulates Ca2+ re-uptake during muscle relaxation and Ca2+ homeostasis in heart muscle |
| ACTC1 | 102540 | CMD1R | 613424 | AD | Localized in contractile apparatus of muscle tissue |
| MYBPC3 | 600958 | CMD1MM | 615396 | AD | Cardiac isoform of myosin-binding protein C found in cross-bridge-bearing zone (C region) of A bands |
| PRDM16 | 605557 | CMD1LL | 615373 | AD | Transcriptional cofactor essential for heart development |
| PSEN1 | 104311 | CMD1U | 613694 | AD | Expressed in heart and critical for heart development |
| PSEN2 | 600759 | CMD1V | 613697 | AD | Expressed in heart and critical for heart development |
| TPM1 | 191010 | CMD1Y | 611878 | AD | Ca2+-dependent regulator of striated muscle contraction |
| VCL | 193065 | CMD1W | 611407 | AD | Encodes an actin filament-binding protein that regulates cell-matrix adhesion, cell-cell adhesion, cell-surface E-cadherin expression, mechanosensing by the E-cadherin complex, cell morphology and cell locomotion |
| TNNC1 | 191040 | CMD1Z | 611879 | AD | Encodes Tn-C that abolishes inhibitory action of Tn on actin filaments upon Ca2+ binding |
| RAF1 | 164760 | CMD1NN | 615916 | AD | Promotes cardiomyocyte survival |
| DSP | 125647 | CMD with woolly hair, keratoderma, tooth agenesis | 615821, 605676 | AD, AR | Obligate component of functional desmosomes |
| TCAP | 604488 | CMD | / | AD | Muscle assembly regulating factor that mediates antiparallel assembly of titin molecules at sarcomeric Z-disk |
| ANKRD1 | 609599 | CMD | / | AD | Nuclear negative transcription factor that regulates expression of cardiac genes |
| TMPO | 188380 | CMD | / | AD | Regulates expression patterns of major cardiac transcription factors |
| ILK | 602366 | CMD | / | AD | Migration and survival of myocardial and endothelial cells |
| TNNI3 | 191044 | CMD2A, CMD1FF | 611880, 613286 | AR | Cardiac mediator of striated muscle relaxation |
| GATAD1 | 614518 | CMD2B | 614672 | AR | Regulates gene expression by binding to a histone modification site |
| FKTN | 607440 | CMD1X | 611615 | AR | Glycosylation of alpha-dystroglycan in skeletal muscle |
| SDHA | 600857 | CMD1GG | 613642 | AR | Major catalytic subunit of succinate-ubiquinone oxidoreductase located in mitochondrial respiratory chain |
| DMD | 300377 | CMD3B | 302045 | XLR | Anchors extracellular matrix to cytoskeleton via F-actin |
| TAZ | 300394 | CMD | / | XLR | Involved in cardiolipin metabolism |
CMD=dilated cardiomyopathy, LVNC=left ventricular non-compaction AD=autosomal dominant; AR=autosomal recessive XLR=X-linked recessive.