TABLE 2.
List of common genes and patterns of inheritance associated with DCM.
Gene | Protein | Mode of inheritance | Cardiac phenotype | OMIM# | Locus |
ABCC9 | ATP-binding cassette | AD | DCM | 601439 | 14q12-q22 |
ACTC1 | Actin-alpha cardiac muscle | AD | DCM, LVNC, ACM, HCM | 102540 | 5q31.1 |
ACTN2 | Actinin alpha-2 | AD | DCM, HCM | 102573 | 6q22.1 |
AKAP9 | A-kinase anchor protein 9 | AD | DCM | 604001 | 2q32.1-q32.3 |
ALMS1 | Centrosome and basal body associated protein | AR | DCM | 606844 | 10p14-p12 |
ALPK3 | Alpha kinase 3 | AR | DCM, HCM | 617608 | 1p36.32 |
ANKRD1 | Ankyrin repeat domain-containing protein 1 | AD | DCM, HCM | 609599 | 7q36.1 |
BAG3 | Bcl2-associated athanogene 3 | AD | DCM, RCM, HCM | 603883 | 14q24.3 |
CASQ2 | Calsequestrin 2 | AR, AD | DCM, LVNC | 114251 | 6q22.31 |
CAV3 | Caveolin 3 | AD | DCM, HCM | 601253 | 12q24.13 |
CRYAB | Crystallin | AD | DCM | 123590 | 11q23.1 |
CSRP3 | Cysteine and glycinin Protein 3 | AD | DCM, HCM | 600824 | 12p12.1 |
CTF1 | Cardiotrophin 1 | AR, AD | DCM | 600435 | 1p13.1 |
DES | Desmin | AD, AR | DCM, ACM, RCM | 125660 | 17q21 |
DMD | Dystrophin | XL | DCM | 300377 | 3p25.3 |
DOLK | Dolichol kinase | AR | DCM | 610746 | 7q33 |
DSC2 | Desmocollin 2 | AD, AR | DCM, ACM | 600271 | Xq22 |
DSG2 | Desmoglein 2 | AD | DCM, ACM | 125671 | 15q24.1 |
DSP | Desmoplakin | AD, AR | DCM, ACM | 125485 | 11p15.5 |
DTNA | Dystrobrevin alpha | AD | DCM, LVNC | 601239 | 2q31 |
EMD | Emerin | XL | DCM | 300384 | 11q23.1 |
EYA4 | Eyes absent Drosophila homolog 4 | AD | DCM | 603550 | 11p15.1 |
FHL1 | Four and a half LIM domain 1 | XL | DCM, HCM | 300163 | 15q22.31 |
FKRP | Fukutin-related protein | AR | DCM | 606596 | 10q21.3 |
FKTN | Fukutin | AR | DCM | 607440 | 2q35 |
FLNC | Filamin C | AD | DMC, RCM, HCM, ACM | 102565 | 10q22.2 |
GATA4 | Gata-binding protein 4 | AD | DCM | 600576 | Xq21.2-p21.1 |
GATAD1 | Gata zinc finger domain-containing protein 1 | AR | DCM | 614518 | 9q34.11 |
GLA | Galactosidase alpha | XL | DCM, HCM | 300644 | 18q11.2 |
ILK | Integrin-linked kinase | AD | DCM | 602366 | 18q12.1 |
JUP | Junction plakoglobin | AD, AR | DCM, ACM | 173325 | 2p13.1 |
LAMA4 | Laminin alpha-4 | AD | DCM | 600133 | 18q12.1 |
LAMP2 | Lysosome-associated membrane protein 2 | XL | DCM, HCM | 309060 | 3p25.2 |
LDB3 | Lim domain binding 3 | AD | DCM, LVNC, ACM, HCM | 605906 | 2p22.1 |
LMNA | Lamin A/C | AD, AR | DCM, LVNC, ACM, HCM | 150330 | 1q22 |
LRRC10 | Leucine-rich repeat-containing Protein 10 | AD, AR | DCM | 610846 | 4q21.3 |
MYBPC3 | Myosin binding protein C | AD | DCM, LVNC, RCM, HCM | 600958 | Xq28 |
MYH6 | Myosin heavy chain 6 | AD | DCM, HCM | 160710 | 10q25.2 |
MYH7 | Myosin heavy chain 7 | AD | DCM, LVNC, RCM, HCM | 160760 | 7p14.2 |
MYL2 | Myosin light chain 2 | AD | DCM, HCM | 160781 | 3p21.3-p21.2 |
MYL3 | Myosin light chain 3 | AD, AR | DCM, HCM, RCM | 160790 | 1q32 |
MYLK2 | Myosin light chain kinase 2 | AD | DCM, HCM | 606566 | 20q13.31 |
MYOT | Myotilin | AD | DCM | 604103 | Xq28 |
MYOZ2 | Myozenin 2 | AD | DCM, RCM, HCM | 605602 | 3p25.1 |
MYPN | Myopalladin | AD | DCM, RCM, HCM | 608517 | 12q23.1 |
NEBL | Nebulette | AD | DCM | 605491 | 6q23.2 |
NEXN | Nexilin | AD | DCM, HCM | 613121 | 1q22 |
NKX2-5 | Nk2 homeobox 5 | AD | DCM | 600584 | Xq26.3 |
PDLIM3 | Pdz and lim domain protein 3 | AD | DCM, HCM | 605899 | 1q43 |
PKP2 | Plakophilin 2 | AD | DCM, ACM | 602861 | 11p15.4 |
PLN | Phospholamban | AD | DCM, ACM, HCM | 172405 | 4q12 |
PRDM16 | PR domain-containing protein 16 | AD | DCM, LVNC | 605557 | 6q21 |
PRKAG2 | Protein kinase amp-activated non-catalytic | AD | DCM, HCM | 602743 | 4q26-q27 |
RBM20 | RNA-binding motif protein 20 | AD | DCM | 613171 | 2q12.2 |
RYR2 | Ryanodine receptor 2 | AD | DCM, HCM, ACM | 180902 | 12p11 |
SCN5A | Sodium channel voltage-gated | AD | DCM, ACM | 600163 | 20q13.12 |
SGCA | Sarcoglycan alpha | AR | DCM | 600119 | 1q25.2 |
SGCB | Sarcoglycan beta | AR | DCM | 600900 | 15q22.1 |
SGCD | Sarcoglycan delta | AD, AR | DCM | 601411 | 19q13.32 |
SLC25A4 | Solute carrier family 25 | AD, AR | DCM | 103220 | 7q21-q22 |
TAZ | Tafazzin | AR, XL | DCM, LVNC | 300394 | Xq24 |
TBX20 | T-Box 20 | AD | DCM, LVNC | 606061 | 10q22.3-q23.2 |
TCAP | Titin-Cap | AR | DCM, HCM | 604488 | 3p21 |
TMEM43 | Transmembrane protein 43 | AD | DCM, ACM | 612048 | 10q23.3 |
TMPO | Thymopoietin | AD | DCM | 188380 | 9q31.2 |
TNNC1 | Troponin C type 1 | AD | DCM, HCM | 191040 | 17q21.33 |
TNNI3 | Troponin I type 3 | AD | DCM, RCM, HCM | 191044 | 3p21.1 |
TNNT2 | Troponin T type 2 | AD | DCM, LVNC, RCM, HCM | 191045 | 17q12 |
TOR1AIP1 | Torsin-1a-interacting protein 1 | AR | DCM | 614512 | 7q32.1 |
TPM1 | Tropomyosin 1 | AD | DCM, RCM, HCM | 191010 | 19q13.4 |
TRDN | Triadin | AR | DCM | 603283 | 17q25.3 |
TTN | Titin | AD, AR | DCM, ACM, HCM | 188840 | 5q33-q34 |
TXNRD2 | Thioredoxin reductase 2 | AD, AR | DCM | 606448 | 8p23.1 |
VCL | Vinculin | AD | DCM, LVNC, HCM | 193065 | 10q25.2 |
AD, autosomal dominant; AR autosomal recessive; OMIM, online mendelian inheritance in man.