Table 1.

Overview of cardiomyopathy associated genes carrying mutations.

Gene	Protein	Function	HCM	DCM	NCCM	ACM	RCM
ABCC9	ATP Binding Cassette Subfamily C Member 9	ABC transporter		[77]
ACAD9	Acyl-CoA Dehydrogenase Member 9	Dehydrogenase	[78]
ACADVL	Acyl-CoA Dehydrogenase Very Long Chain	Dehydrogenase		[79]
ACTC1	Cardiac Actin	Sarcomere protein	[43,80]	[81]	[82]		[83]
ACTN2	α-Actinin 2	Z-band protein	[84]	[85]	[86]		[69]
ADRB2	Adrenoreceptor β2	G-protein coupled receptor		[87]
AKAP9	A Kinase Anchoring Protein 9	Scaffolding protein	[88]
ALMS1	Alstrom Syndrome Protein 1	Microtubule organization		[89] 1
ALPK3	α-Kinase 3	Kinase	[90]	[90]
ANK2	Ankyrin 2	Cytoskeleton linker protein	[91]			[92]
ANKRD1	Ankyrin Repeat Domain Containing Protein 1	Transcription factor	[93]	[94,95]
BAG3	Bcl-2 Associated Athanogene 3	Co-chaperone		[96]			[69,97]
BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Kinase	[98] 2
C2ORF40	Chromosome 2 Open Reading Frame 40	Hormone		[99]
CACNA1C	Calcium Voltage-Gated Channel Subunit α1C	Calcium channel	[100]
CALM3	Calmodulin 3	Calcium binding	[101] 3
CALR3	Calreticulin 3	Calcium binding chaperone	[46]
CASQ2	Calsequestrin 2	Calcium binding	[46]
CASZ1	Castor Zinc Finger 1	Transcription factor		[102]	[103]
CAV3	Caveolin 3	Scaffolding protein	[104]
CAVIN4	Muscle Restricted Coiled Coil Protein	Myofibrillar organization		[105]
CDH2	N-Cadherin	Cell–cell adhesion				[106,107]
CHRM2	Cholinergic Receptor Muscarinic 2	G-protein coupled receptor		[108]
COL3A1	Collagen Type III Alpha 1 Chain	Extra cellular matrix protein			[109] 4
COX15	Cytochrome C Oxidase Assembly Homolog COX15	Mitochondrial respiratory chain	[110]
CRYAB	αB-Crystallin	Chaperone-like activity		[111]			[112]
CSRP3	Muscle LIM Protein	Scaffolding protein	[113,114,115]	[116]
CTF1	Cardiotrophin 1	Cytokine		[117]
CTNNA3	αT-Catenin	Cell–cell adhesion				[118]
DES	Desmin	Intermediate filament protein	[25]	[24,119]	[30]	[26]	[28]
DLG1	Discs Large MAGUK Scaffold Protein 1	Scaffolding protein		[88]
DMD	Dystrophin	Dystrophin–glycoprotein complex		[120]
DNAJC19	DNAJ Heat Shock Protein Family C19	Co-chaperone		[121]			[121]
DOLK	Dolichol Kinase	Phosphorylation of dolichol		[122] 5
DPM3	Dolichyl-Phosphate Mannosyltransferase Subunit 3	Mannosyltransferase		[123]
DSC2	Desmocollin 2	Cell–cell adhesion		[35]		[124]
DSG2	Desmoglein 2	Cell–cell adhesion		[125]		[126,127]
DSP	Desmoplakin	Cell–cell adhesion		[128]	[129]	[130]
DTNA	α-Dystrobrevin	Dystrophin-glycoprotein complex			[131]
ELAC2	ElaC Ribonuclease Z2	3′-tRNA endoribonuclease	[132]
EMD	Emerin	Nuclear lamina associated protein		[133]
EYA4	Eyes Absent Homolog 4	Transcription factor		[51]
FBN1	Fibrillin 1	Extra cellular matrix protein	[134] 6	[135] 7	[136] 7
FBXO32	F-Box Only Protein 32	Ubiquitin–protein ligase complex		[137,138]
FHL1	Four and a Half LIM Domain Protein 1	Scaffolding protein	[41]
FHL2	Four and a Half LIM Domain Protein 2	Scaffolding protein		[139]
FHOD3	Formin Homology 2 Domain Containing Protein 3	Organization of actin-polymerization	[140]	[141]
FKRP	Fukutin Related Protein	Posttranslational modification of dystroglycan		[142] 8
FKTN	Fukutin	Glycosyltransferase of dystroglycan			[143]
FLNC	Filamin C	Cell junction organization	[45]	[144,145]		[145]	[72]
FOXD4	Forkhead Box Protein D4	Transcription factor		[146]
FXN	Frataxin	Regulation of mitochondrial iron transport	[147] 9
GAA	α-Glucosidase	Glycogen metabolism	[148] 9
GATA4	GATA Binding Protein 4	Transcription factor		[149]	[150] 10
GATA5	GATA Binding Protein 5	Transcription factor		[151]
GATAD1	GATA Zink Finger Domain Containing Protein 1	Gene expression regulation		[152]
GLA	Galactosidase α	Galactose metabolism	[153] 11
GTPBP3	GTP Binding Protein 3, Mitochondrial	Mitochondrial tRNA modification	[154] 12
HAND1	Heart and Neural Crest Derivatives Expressed 1	Transcription factor		[155]
HAND2	Heart and Neural Crest Derivatives Expressed 2	Transcription factor		[156]
HCN4	Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4	Potassium channel			[157]
HRAS	HRas Proto-Oncogene GTPase	Signaling protein	[158]13
ILK	Integrin Linked Kinase	Scaffolding protein		[159,160]		[68]
ISL1	ISL LIM Homeobox 1	Transcription factor		[161]
ITGA7	Integrin Subunit A7	Cell–cell and cell–matrix junction protein			[162] 14
ITPA	Inosine Triphosphate Pyrophosphatase	Nucleotide metabolism		[163] 15
JPH2	Junctophilin 2	Junctional complex	[164]	[165]
JUP	Plakoglobin	Cell–cell adhesion				[58]
KCNQ1	Potassium Channel Voltage Gated KQT-Like Subfamily Member 1	Potassium channel				[166]
KLHL24	Kelch Like 24	Ubiquitin ligase substrate receptor	[167]
LAMA4	Laminin α4	Extra cellular matrix protein		[159]
LAMP2	Lysosomal Associated Membrane Protein 2	Chaperone-mediated autophagy	[168] 16
LDB3	LIM Domain Binding Protein 3	Z-band protein	[169]	[170,171]	[170,172]	[173]
LEMD2	LEM Domain Containing Protein 2	Nuclear lamina associated protein				[64,174] 17
LMNA	Lamin A/C	Nuclear lamina associated protein		[49]	[175]	[63]
LRRC10	Leucine Rich Repeat Containing Protein 10	Actin and α-actinin binding protein		[176]
MIB1	Mindbomb Drosophila Homolog 1	Ubiquitin ligase			[177]
MIB2	Mindbomb Drosophila Homolog 2	Ubiquitin ligase			[178] 18
MRPL3	Mitochondrial Ribosomal Protein L3	Mitochondrial ribosomal protein	[179] 19
MRPL44	Mitochondrial Ribosomal Protein L44	Mitochondrial ribosomal protein	[180,181]
MYBPC3	Myosin Binding Protein C3	Sarcomere protein	[182,183]	[184]	[185]		[186]
MYBPHL	Myosin Binding Protein H-Like	Sarcomere protein		[187]
MYH6	Myosin Heavy Chain 6	Sarcomere protein	[188]	[188]
MYH7	Myosin Heavy Chain 7	Sarcomere protein	[22]	[48]	[7]		[189]
MYH7B	Myosin Heavy Chain 7B	Sarcomere protein			[162] 20
MYL2	Myosin Light Chain 2	Sarcomere protein	[190]				[191]
MYL3	Myosin Light Chain 3	Sarcomere protein	[192]				[192]
MYLK3	Myosin Light Chain Kinase 3	Kinase		[193]
MYOZ1	Myozenin 1	Calcineurin interacting protein		[194]
MYOZ2	Myozenin 2	Calcineurin interacting protein	[195]
MYPN	Myopalladin	Z-band protein	[196]	[94,197]			[196,198]
NCOA6	Nuclear Receptor Coactivator 6	Gene expression regulation		[199]
NDUFAF1	NADH: Ubiquinone Oxidoreductase Complex Assembly Factor 1	Mitochondrial respiratory chain	[200]
NDUFV2	NADH: Ubiquinone Oxidoreductase Core Subunit V2	Mitochondrial respiratory chain	[201,202] 21
NEBL	Nebulette	Z-band protein	[203]	[204]	[203]
NEXN	Nexilin	Sarcomere protein	[205]	[206]	[207]
NKX2.5	NK2 Homeobox 5	Transcription factor		[208]
OBSCN	Obscurin	Scaffolding protein		[209]
P2RX7	Purinergic receptor P2X7	ATP gated ion channel	[210]
PDLIM3	PDZ And LIM Domain 3	Z-band protein		[194]
PKP2	Plakophilin 2	Cell-cell adhesion		[35]	[211]	[212]
PLN	Phospholamban	Regulator of SERCA	[46]	[213,214]		[67]
PPCS	Phosphopantothenoylcystein Synthetase	Co-enzyme A synthesis		[215]
PRDM16	PR Domain Containing Protein 16	Transcription factor		[216]	[217]
PRKAG2	Protein Kinase AMP Activated Non-catalytic G2	Energy sensor kinase	[218,219] 22
PSEN1	Presenilin 1	γ-Secretase		[220,221]
PSEN2	Presenilin 2	γ-Secretase		[220]
PTEN	Phosphatase and Tensin Homolog	Phosphatase			[150] 23
PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 1	Phosphatase	[222] 24
RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Kinase	[223,224] 25	[225]
RBM20	RNA Binding Protein 20	Splicing factor		[52,226]	[227]	[228,229]
RRAGC	Ras Related GTP Binding C	GTR/RAG GTP-binding protein		[230]
RTKN2	Rhotekin 2	Scaffolding protein		[99]
RYR2	Ryanodine Receptor 2	Calcium channel				[66]
SCN5A	Sodium Channel Voltage Gated Type V Subunit A	Sodium channel		[50,231]		[232]
SCO2	SCO2 Cytochrome C Oxidase Assembly Protein	Metallo-chaperone	[233]
SDHA	Succinate Dehydrogenase Complex Subunit A	Mitochondrial respiratory chain		[234]
SGCB	Sarcoglycan β	Dystrophin-glycoprotein complex		[235]
SGCD	Sarcoglycan δ	Dystrophin-glycoprotein complex		[236]
SHOC2	Suppressor Of Clear, C. Elegans, Homolog	Scaffolding protein	[237]
SYNE1	Nesprin 1	Component of the LINC complex	[238]	[239]
TAZ	Tafazzin	Cardiolipin metabolism		[240] 26	[241,242]
TBX20	T-Box Factor 20	Transcription factor		[243,244]
TCAP	Thelethonin	Titin binding	[245]	[244,245]
TGFB3	Transforming Growth Factor β3	Growth factor				[246]
TJP1	Zonula Occludens 1	Tight junction adapter protein				[247]
TMEM43	Transmembrane Protein 43	Nuclear lamina associated protein				[9,10]
TMEM87B	Transmembrane Protein 87B	Endosome-to-trans-Golgi retrograde transport					[248]
TNNC1	Cardiac Troponin C	Sarcomere protein	[39]	[249]			[250]
TNNI3	Cardiac Troponin I	Sarcomere protein	[40]	[251]	[252]		[71]
TNNI3K	TNNI3 Interacting Kinase	Kinase		[253]
TNNT2	Cardiac Troponin T	Sarcomere protein	[38]	[254]	[255]		[83]
TP63	Tumor Protein 63	Transcription factor				[256]
TPM1	Tropomyosin 1	Sarcomere protein	[38,257]	[258]	[259]		[191]
TRIM63	Tripartite Motif Containing Protein 63	Ubiquitin ligase	[260]
TRPM4	Transient Receptor Potential Cation Channel Subfamily M	Cation channel			[261]
TSFM	Mitochondrial Translation Elongation Factor Ts	Translation elongation factor		[262]
TTN	Titin	Sarcomere protein	[263]	[32,264]	[87,265]	[33]	[34]
TTR	Transthyretin	Carrier protein	[266,267] 27
TXNRD2	Thioredoxin Reductase 2	Reduces thioredoxins		[268]
VCL	Vinculin	Cell–cell and cell–matrix junction protein	[269,270]	[271]
ZBTB17	Zinc Finger and BTB Domain Containing Protein 17	Transcription factor		[272,273]

¹ Alström syndrome (MIM #203800); ² Cardiofaciocutaneous syndrome (MIM #115150); ³ Modifier gene; ⁴ Ehlers–Danlos syndrome (MIM #130090); ⁵ Multi-organ involvement; ⁶ Digenetic with PTPN11 mutations, combined with Marfan and Leopard syndrome; ⁷ Marfan Syndrome (MIM #154700); ⁸ Limb-girdle muscular dystrophy; ⁹ Friedreich ataxia (MIM #229300); ¹⁰ Digenetic with PTEN; ¹¹ Fabry disease; ¹² In combination with lactic acidosis and encephalopathy; ¹³ Costello syndrome (MIM #218040); ¹⁴ Digenetic with MYH7B;¹⁵ Martsolf-like syndrome (MIM #212720) in combination with DCM; ¹⁶ Danon disease (MIM #300257); ¹⁷ In combination with cataract; ¹⁸ In combination with giant hypertrophic gastritis (MIM #137280, Ménétrier disease); ¹⁸ In combination with psychomotor retardation; ¹⁹ Digenetic with ITGA7; ²⁰ In combination with encephalopathy; ²¹ Wolff–Parkinson–White syndrome (MIM #194200); ²² Digenetic with GATA4 mutation; ²³ Noonan syndrome; ²⁴ Noonan syndrome or Leopard syndrome; ²⁵ Barth syndrome (MIM #302060); ²⁶ Amyloid cardiomyopathy (MIM #105210); ²⁷ Fabry disease.