Table 2.
List of the 117 potential sudden death-associated genes analyzed in this study
| Number | Gene | Protein | Disease Association |
|---|---|---|---|
| 1 | ABCC9 | ATP-binding cassette, sub-family C (CFTR/MRP), member 9 | DCM |
| 2 | ACAD9 | acyl-CoA dehydrogenase family, member 9 | FAOD |
| 3 | ACADM | acyl-CoA dehydrogenase, C-4 to C-12 straight chain | FAOD |
| 4 | ACADS | acyl-CoA dehydrogenase, C-2 to C-3 short chain | FAOD |
| 5 | ACADVL | acyl-CoA dehydrogenase, very long chain | FAOD |
| 6 | ACTC1 | actin, alpha, cardiac muscle 1 | HCM, DCM |
| 7 | ACTN2 | actinin, alpha 2 | HCM, DCM |
| 8 | AKAP9 | A kinase (PRKA) anchor protein (yotiao) 9 | LQTS |
| 9 | ANK2 | ankyrin 2 | LQTS |
| 10 | ANKRD1 | ankyrin repeat domain 1 (cardiac muscle) | HCM, DCM |
| 11 | BAG3 | Bcl2-associated athanogene 3 | DCM |
| 12 | CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit | BrS, LQTS |
| 13 | CACNA2D1 | calcium channel, voltage-dependent, alpha 2/delta subunit 1 | BrS |
| 14 | CACNB2 | calcium channel, voltage-dependent, beta 2 subunit | BrS |
| 15 | CALM1 | calmodulin 1 | LQTS, CPVT |
| 16 | CALM2 | calmodulin 2 | LQTS |
| 17 | CALR3 | calreticulin 3 | HCM |
| 18 | CASQ2 | calsequestrin 2 (cardiac muscle) | CPVT |
| 19 | CAV3 | caveolin 3 | LQTS |
| 20 | CPT1A | carnitine palmitoyltransferase 1A | FAOD |
| 21 | CPT2 | carnitine palmitoyltransferase 2 | FAOD |
| 22 | CRYAB | crystallin, alpha B | DCM |
| 23 | CSRP3 | cysteine and glycine-rich protein 3 (cardiac LIM protein) | HCM, DCM |
| 24 | CTF1 | cardiotrophin 1 | DCM |
| 25 | DES | desmin | DCM |
| 26 | DMD | dystrophin, muscular dystrophy | DCM |
| 27 | DSC2 | desmocollin 2 | ACM |
| 28 | DSG2 | desmoglein 2 | ACM |
| 29 | DSP | desmoplakin | ACM |
| 30 | EMD | emerin (Emery-Dreifuss muscular dystrophy) | DCM |
| 31 | ETFA | electron-transfer-flavoprotein, alpha polypeptide | FAOD |
| 32 | ETFB | electron-transfer-flavoprotein, beta polypeptide | FAOD |
| 33 | ETFDH | electron-transferring-flavoprotein dehydrogenase | FAOD |
| 34 | EYA4 | eyes absent homolog 4 (Drosophila) | DCM |
| 35 | FCMD | fukuyama type congenital muscular dystrophy (fukutin)1 | DCM |
| 36 | FHL2 | four and a half LIM domains 2 | DCM |
| 37 | FXN | frataxin | HCM |
| 38 | GATA4 | GATA-binding protein 4 | HCM |
| 39 | GATAD1 | GATA zinc finger domain containing 1 | DCM |
| 40 | GLA | galactosidase, alpha | HCM |
| 41 | GLUD1 | glutamate dehydrogenase 1 | FAOD |
| 42 | GPD1L | glycerol-3-phosphate dehydrogenase 1-like | BrS |
| 43 | HADH | hydroxyacyl-CoA dehydrogenase | FAOD |
| 44 | HADHA | hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit | FAOD |
| 45 | HADHB | hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit | FAOD |
| 46 | HCN4 | hyperpolarization activated cyclic nucleotide-gated potassium channel 4 | BrS |
| 47 | HMGCL | 3 -hydroxymethyl-3-methylglutaryl-CoA lyase | FAOD |
| 48 | HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) | FAOD |
| 49 | HSD17B10 | hydroxysteroid (17-beta) dehydrogenase 10 | FAOD |
| 50 | ILK | integrin-linked kinase | DCM |
| 51 | JAG1 | jagged 1 | HCM |
| 52 | JPH2 | junctophilin 2 | HCM |
| 53 | JUP | junction plakoglobin | ACM |
| 54 | KCNA1 | potassium voltage-gated channel, shaker-related subfamily, member 1 | SUDEP |
| 55 | KCND3 | potassium voltage gated channel, Shal-related family, member 3 | BrS |
| 56 | KCNE1 | potassium voltage-gated channel, Isk-related family, member 1 | LQTS |
| 57 | KCNE2 | potassium voltage-gated channel, Isk-related family, member 2 | LQTS |
| 58 | KCNE3 | potassium voltage-gated channel, Isk-related family, member 3 | BrS |
| 59 | KCNH2 | potassium voltage-gated channel, subfamily H (eag-related), member 2 | LQTS |
| 60 | KCNJ2 | potassium inwardly-rectifying channel, subfamily J, member 2 | LQTS |
| 61 | KCNJ5 | potassium inwardly-rectifying channel, subfamily J, member 5 | LQTS |
| 62 | KCNJ8 | potassium inwardly-rectifying channel, subfamily J, member 8 | BrS |
| 63 | KCNQ1 | potassium voltage-gated channel, KQT-like subfamily, member 1 | LQTS |
| 64 | LAMA4 | laminin, alpha 4 | DCM |
| 65 | LAMP2 | lysosome-associated membrane glycoprotein 2 | HCM |
| 66 | LBD3 | LIM binding domain 3 (ZASP) | HCM, DCM |
| 67 | LMNA | lamin A/C | DCM |
| 68 | MYBPC3 | myosin binding protein C, cardiac | HCM, DCM |
| 69 | MYH6 | myosin, heavy chain 6, cardiac muscle, alpha | HCM, DCM |
| 70 | MYH7 | myosin, heavy chain 7, cardiac muscle, beta | HCM, DCM |
| 71 | MYL2 | myosin, light chain 2, regulatory, cardiac, slow | HCM |
| 72 | MYL3 | myosin, light chain 3, alkali; ventricular, skeletal, slow | HCM |
| 73 | MYLK2 | myosin light chain kinase 2 | HCM |
| 74 | MYOM1 | myomesin 1, 185kDa | HCM |
| 75 | MYOZ2 | myozenin 2 | HCM |
| 76 | MYPN | myopalladin | HCM, DCM |
| 77 | NEBL | nebulette | DCM |
| 78 | NEXN | nexilin (F actin binding protein) | HCM, DCM |
| 79 | NKX2.5 | NK2 transcription factor related 5 | HCM |
| 80 | PDLIM3 | PDZ and LIM domain 3 | DCM |
| 81 | PKP2 | plakophilin 2 | ACM |
| 82 | PLN | phospholamban | HCM, DCM |
| 83 | PPARG | peroxisome proliferator-activated receptor gamma | FAOD |
| 84 | PRKAG2 | protein kinase, AMP-activated, gamma 2 non-catalytic subunit | HCM |
| 85 | PSEN1 | presenilin 1 | DCM |
| 86 | PSEN2 | presenilin 2 | DCM |
| 87 | PTPN11 | protein tyrosine phosphatase, non-receptor type 11 | HCM |
| 88 | RAF1 | v-raf-1 murine leukemia viral oncogene homolog 1 | HCM |
| 89 | RANGRF | RAN guanine nucleotide release factor | BrS |
| 90 | RBM20 | RNA binding motif protein 20 | DCM |
| 91 | RYR2 | ryanodine receptor 2 (cardiac) | CPVT, ACM |
| 92 | SCN1A | sodium channel, voltage-gated, type I, alpha subunit | SUDEP |
| 93 | SCN1B | sodium channel, voltage-gated, type I, beta | BrS |
| 94 | SCN3B | sodium channel, voltage-gated, type III, beta | BrS |
| 95 | SCN4B | sodium channel, voltage-gated, type IV, beta | LQTS |
| 96 | SCN5A | sodium channel, voltage-gated, type V, alpha | LQTS, BrS, DCM |
| 97 | SCN8A | sodium channel, voltage gated, type VIII, alpha subunit | SUDEP |
| 98 | SGCD | sarcoglycan, delta (dystrophin-associated glycoprotein) | DCM |
| 99 | SLC22A5 | solute carrier family 22 (organic cation/carnitine transporter), member 5 | FAOD |
| 100 | SLC25A20 | solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 | FAOD |
| 101 | SNTA1 | syntrophin, alpha 1 | LQTS |
| 102 | TAZ | tafazzin | DCM, FAOD |
| 103 | TBX1 | T-box 1 | HCM |
| 104 | TBX5 | T-box 5 | HCM |
| 105 | TCAP | titin-cap (telethonin) | HCM, DCM |
| 106 | TGFB3 | transforming growth factor, beta 3 | ACM |
| 107 | TMEM43 | transmembrane protein 43 | ACM |
| 108 | TMPO | thymopoietin | DCM |
| 109 | TNNC1 | troponin C type 1 | HCM, DCM |
| 110 | TNNI3 | troponin I type 3 (cardiac) | HCM, DCM |
| 111 | TNNT2 | troponin T type 2 (cardiac) | HCM, DCM |
| 112 | TPM1 | tropomyosin 1 (alpha) | HCM, DCM |
| 113 | TRDN | triadin | CPVT |
| 114 | TTN | titin | HCM, DCM |
| 115 | TTR | transthyretin | HCM, DCM |
| 116 | TXNRD2 | thioredoxin reductase 2 | DCM |
| 117 | VCL | vinculin | HCM, DCM |
Genes listed alphabetically. Channelopathies: Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), Long QT syndrome (LQTS). Cardiomyopathies: arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), fatty acid oxidation disorder (FAOD), sudden unexplained death in epilepsy (SUDEP).