ACTC1

Summary

ACTC1 (actin alpha cardiac muscle 1, HGNC:143) is a protein-coding gene on chromosome 15q14, encoding Actin, alpha cardiac muscle 1 (P68032). Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC).

Source: NCBI Gene 70 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypertrophic cardiomyopathy (Definitive, ClinGen) — +8 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 639 total — 19 pathogenic, 10 likely-pathogenic
• Phenotypes (HPO): 70
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_005159

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:143
Approved symbol	ACTC1
Name	actin alpha cardiac muscle 1
Location	15q14
Locus type	gene with protein product
Status	Approved
Aliases	CMD1R
Ensembl gene	ENSG00000159251
Ensembl biotype	protein_coding
OMIM	102540
Entrez	70

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 12 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000290378, ENST00000557860, ENST00000560563, ENST00000647798, ENST00000648556, ENST00000650163, ENST00000713608, ENST00000713610, ENST00000713613, ENST00000713615, ENST00000713616, ENST00000713617, ENST00000868405, ENST00000868406, ENST00000868407, ENST00000868408, ENST00000920920, ENST00000953688, ENST00000953689

RefSeq mRNA: 5 — MANE Select: NM_005159 NM_001406482, NM_001406483, NM_001406484, NM_001406485, NM_005159

CCDS: CCDS10041

Canonical transcript exons

ENST00000290378 — 7 exons

Exon	Start	End
ENSE00001044284	34794680	34794830
ENSE00001197654	34795506	34795549
ENSE00001680366	34793245	34793569
ENSE00003640648	34792408	34792569
ENSE00003691578	34792090	34792281
ENSE00004020477	34791114	34791295
ENSE00004020480	34790230	34790555

Expression profiles

Bgee: expression breadth ubiquitous, 224 present calls, max score 99.99.

FANTOM5 (CAGE): breadth broad, TPM avg 79.4153 / max 17130.0013, expressed in 513 samples.

FANTOM5 promoters (19 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149299	74.6926	464
149285	0.8124	170
149297	0.7929	116
149278	0.5816	158
149290	0.3877	115
149298	0.3759	149
149280	0.3158	95
149294	0.2681	85
149296	0.2427	88
149281	0.2271	82

Top tissues by expression

280 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.99	gold quality
heart right ventricle	UBERON:0002080	99.98	gold quality
myocardium	UBERON:0002349	99.98	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.97	gold quality
cardiac atrium	UBERON:0002081	99.96	gold quality
right atrium auricular region	UBERON:0006631	99.96	gold quality
apex of heart	UBERON:0002098	99.94	gold quality
cardiac ventricle	UBERON:0002082	99.93	gold quality
heart left ventricle	UBERON:0002084	99.93	gold quality
vena cava	UBERON:0004087	99.84	gold quality
gluteal muscle	UBERON:0002000	99.65	gold quality
seminal vesicle	UBERON:0000998	99.53	gold quality
heart	UBERON:0000948	99.22	gold quality
blood vessel layer	UBERON:0004797	99.04	gold quality
tibialis anterior	UBERON:0001385	98.45	gold quality
popliteal artery	UBERON:0002250	98.05	gold quality
tibial artery	UBERON:0007610	98.04	gold quality
aorta	UBERON:0000947	97.76	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.63	gold quality
mucosa of stomach	UBERON:0001199	97.57	gold quality
ascending aorta	UBERON:0001496	97.50	gold quality
thoracic aorta	UBERON:0001515	97.49	gold quality
diaphragm	UBERON:0001103	97.38	gold quality
body of tongue	UBERON:0011876	96.77	gold quality
gastrocnemius	UBERON:0001388	96.72	gold quality
descending thoracic aorta	UBERON:0002345	96.59	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.34	gold quality
right coronary artery	UBERON:0001625	95.92	gold quality
urethra	UBERON:0000057	95.88	gold quality
muscle of leg	UBERON:0001383	95.45	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-GEOD-124472	yes	17318.62
E-HCAD-56	yes	8083.29
E-MTAB-9388	yes	3444.30
E-ANND-5	yes	853.66
E-MTAB-8271	yes	7.14
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYOD1, NKX2-5, SP1, SRF, TBP, YY1

miRNA regulators (miRDB)

120 targeting ACTC1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-495-3P	99.96	72.81	4197

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 39)

• actin has a function in cytoskeleton in mediating the spatial activation of Ras subfamily GTPases through the selective recruitment of GDP/GTP exchange factors (PMID:14988412)
• We present two cases, a father and son, with a novel missense mutation in the alpha actin gene.(Phe375Cys) (PMID:16967490)
• hypertrophic cardiomyopathy, left ventricular non-compaction (HCM and LVNC) may appear as overlapping entities. The ACTC E101K mutation should be considered in the genetic diagnosis of LVNC, apical HCM, and septal defects. (PMID:17611253)
• The results indicate that ACTC1 mutations or reduced ACTC1 levels may lead to atrial septal defect without signs of cardiomyopathy. (PMID:17947298)
• Functional effects of nemaline myopathy mutations on human skeletal alpha-actin. (PMID:18477565)
• Nine distinct mutations, 7 of them in MYH7, 1 in ACTC, and 1 in TNNT2, were found unrelated adult probands with left ventricular noncompaction and no other congenital heart anomalies (PMID:18506004)
• Gln(137) plays dual roles in actin polymerization, in both the conformational transition of the actin molecule and the mechanism of ATP hydrolysis (PMID:18515362)
• Data show that comparable levels of cardiac alpha-actin in the extraocular muscles of human, pig and sheep to those in the heart. (PMID:18952430)
• E99K inhibits the activation of the thin filament by myosin strong-binding whereas R312H demonstrates enhanced calcium activation. (PMID:19799913)
• Screening of MYH7, cardiac ACTC and TNNI3 genes in dilated cardiomyopathy patients revealed two missense mutations, seven silent mutations, two polymorphisms in MYH7 gene, and two missense mutations and one silent mutation pertaining to TNNI3 gene. (PMID:20086309)
• Variations in ACTC1 is associated with refractive errors and myopia. (PMID:20835239)
• Reduced ACTC1 expression might play a role in the onset of congenital heart defects through induction of cardiomyocyte apoptosis. (PMID:20962418)
• propose that the ACTC E99K mutation causes higher myofibrillar Ca(2+) sensitivity that is responsible for the sudden cardiac death, apical hypertrophy, and subsequent development of heart failure in humans and mice. (PMID:21622575)
• Data show that HMGN2 inhibited the attachment of bacteria, and then decreased bacteria-induced ERK1/2 activation and actin polymerization, which might contribute to bacterial internalization into T24 cells. (PMID:21778192)
• ACTC1 mutations Y166C and M305L are associated with hypertrophic cardiomyopathy (PMID:22643837)
• The authors demonstrate that clathrin promotes clustering of the vaccinia virus actin tail nucleator A36 and host N-WASP, which activates actin nucleation through the Arp2/3 complex. (PMID:22980331)
• In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia. (PMID:23834555)
• Genetic variations at the ACTC1 gene may contribute to progression to chronic Chagas Cardiomyopathy (PMID:24367596)
• Our results provide further evidence supporting a causative role for ACTC1 mutations in ASD. Massively parallel sequencing of the exome allows for the detection of novel rare variants causing CHD without the limitations of a candidate gene approach. (PMID:24461919)
• Change in the ability of cMyBP-C to bind cardiac actin modified filaments might contribute to the development of disease. (PMID:24736382)
• highly penetrant, novel, heterozygous ACTC1I289T mutation is associated with a family with left ventricular noncompaction. (PMID:25201647)
• The first step of hypertrophic cardiomyopathy pathogenesis with E99K is increased calcium sensitivity and decreased calcium cooperativity, which result in larger tension during partial activation to cause a diastolic problem. (PMID:25451174)
• In adult Hypertrophic Cardiomyopathy patients, thin-filament gene ACTC1 mutations are associated with increased likelihood of advanced Left Ventricular dysfunction and heart failure compared with thick-filament disease. (PMID:25524337)
• We reported a case of mirror-type dextrocardia who developed HCM in adulthood exhibiting multiple genetic mutation related to sarcomere proteins (PMID:25863306)
• A heterozygous missense mutation was found (c.251T>C, p.(Met84Thr)) in the ACTC1 gene (PMID:26061005)
• ACTC1 is expressed in a large subset of gliomas, especially high-grade tumors. ACTC1-positive gliomas indicated poorer prognosis compared with ACTC1-negative gliomas. (PMID:27081897)
• These findings suggest that the familial ostium secundum atrial septal defect (ASDII)may be a result of an ACTC1 3’UTR gain-of-function mutation caused by the introduction of a new miR-139-5p target site. Our results provide the first evidence of a pathogenic mutation in the ACTC1 3’UTR that may be associated with familial isolated ASDII. (PMID:27139165)
• In conclusion, given that ACTC1 upregulation is associated with improved muscle function in certain myopathies, we hypothesize that upregulation of ACTC1 may represent a compensatory response to androgen deprivation therapy-induced muscle loss (PMID:28756295)
• Novel p.(Ala21Val) mutation of ACTC1 causes myofibrillar and intercalated disc alteration leading to familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts. (PMID:29440008)
• arrhythmogenesis was evident in all E99K-ACTC1 human induced pluripotent stem cell-derived cardiomyocytes. (PMID:30392975)
• A combined phenotype of atrial-septal defects and late-onset heart failure was caused by a heterozygous, nonsynonymous ACTC1 mutation. (PMID:31430208)
• These data suggest that human ACTC1 p. Gly247Asp mutation negatively regulates serum response factor -signaling likely contributing to the late-onset dilated cardiomyopathy observed in mutation carrier patients. (PMID:31434612)
• Use of a human embryonic stem cell model to discover GABRP, WFDC2, VTCN1 and ACTC1 as markers of early first trimester human trophoblast. (PMID:32359161)
• Whole blood ACTB, B2M and GAPDH expression reflects activity of inflammatory bowel disease, advancement of colorectal cancer, and correlates with circulating inflammatory and angiogenic factors: Relevance for real-time quantitative PCR. (PMID:32424999)
• The Dark Side of Actin: Cardiac actin variants highlight the role of allostery in disease development. (PMID:33049292)
• Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population. (PMID:36011517)
• Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac alpha-Actin (ACTC1) Gene. (PMID:36960733)
• Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function. (PMID:37252999)
• Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects. (PMID:37457373)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	actc2	ENSDARG00000057911
mus_musculus	Actc1	ENSMUSG00000068614
rattus_norvegicus	Actc1	ENSRNOG00000008536

Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), ACTR3B (ENSG00000133627), ACTL6A (ENSG00000136518), ACTR2 (ENSG00000138071), ACTR1A (ENSG00000138107), ACTA1 (ENSG00000143632), ACTL7B (ENSG00000148156), ACTG2 (ENSG00000163017), ACTBL2 (ENSG00000169067), ACTRT2 (ENSG00000169717), ACTL9 (ENSG00000181786), ACTG1 (ENSG00000184009), ACTRT3 (ENSG00000184378), ACTL7A (ENSG00000187003), ACTL10 (ENSG00000288649)

Protein

Protein identifiers

Actin, alpha cardiac muscle 1 — P68032 (reviewed: P68032)

Alternative names: Alpha-cardiac actin

All UniProt accessions (5): P68032, A0AAQ5BGG2, A0AAQ5BGI5, A0AAQ5BGK4, A0AAQ5BGK5

UniProt curated annotations — full annotation on UniProt →

Function. Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Subunit / interactions. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others.

Subcellular location. Cytoplasm. Cytoskeleton.

Post-translational modifications. Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promotes actin repolymerization. Monomethylation at Lys-86 (K86me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration. N-terminal cleavage of acetylated cysteine of intermediate muscle actin by ACTMAP. Methylated at His-75 by SETD3. (Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-52 of one monomer and Glu-272 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding. The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners.

Disease relevance. Cardiomyopathy, dilated, 1R (CMD1R) [MIM:613424] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry. Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry. Atrial septal defect 5 (ASD5) [MIM:612794] A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.

Similarity. Belongs to the actin family.

RefSeq proteins (5): NP_001393411, NP_001393412, NP_001393413, NP_001393414, NP_005150* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004000	Actin	Family
IPR004001	Actin_CS	Conserved_site
IPR020902	Actin/actin-like_CS	Conserved_site
IPR043129	ATPase_NBD	Homologous_superfamily

Pfam: PF00022

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (63 total): helix 23, strand 17, sequence variant 11, modified residue 5, chain 2, turn 2, cross-link 2, initiator methionine 1

Structure

Experimental structures (PDB)

16 structures.

PDB	Method	Resolution (Å)
8GT1	X-RAY DIFFRACTION	1.35
8GSW	X-RAY DIFFRACTION	1.4
8GT5	X-RAY DIFFRACTION	1.4
8GSU	X-RAY DIFFRACTION	1.5
8GT2	X-RAY DIFFRACTION	1.5
8GT3	X-RAY DIFFRACTION	1.5
8GT4	X-RAY DIFFRACTION	1.55
9ZBL	ELECTRON MICROSCOPY	2.79
8ZI9	ELECTRON MICROSCOPY	3.08
9BPH	ELECTRON MICROSCOPY	3.12
9ZBP	ELECTRON MICROSCOPY	3.12
8ZB7	ELECTRON MICROSCOPY	3.19
9BPM	ELECTRON MICROSCOPY	3.42
9B3R	ELECTRON MICROSCOPY	3.5
9B3Q	ELECTRON MICROSCOPY	3.6
8ZJ1	ELECTRON MICROSCOPY	4.25

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P68032-F1	95.47	0.93

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (7): 2, 46, 49, 75, 86, 52, 272

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-390522	Striated Muscle Contraction
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013026	RHOB GTPase cycle
R-HSA-9764561	Regulation of CDH1 Function
R-HSA-9913351	Formation of the dystrophin-glycoprotein complex (DGC)
R-HSA-9958825	Activation of STAT3 by cadherin engagement
R-HSA-1474244	Extracellular matrix organization
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-3000171	Non-integrin membrane-ECM interactions
R-HSA-397014	Muscle contraction
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 374 (showing top): GOBP_RESPONSE_TO_ETHANOL, BERENJENO_ROCK_SIGNALING_NOT_VIA_RHOA_DN, GOBP_MUSCLE_TISSUE_DEVELOPMENT, WWTAAGGC_UNKNOWN, PAX4_01, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, chr15q14, GOBP_CARDIAC_MYOFIBRIL_ASSEMBLY, MEF2_02, MODULE_329, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, GNF2_MYL3, SRF_Q5_01

GO Biological Process (15): actin filament organization (GO:0007015), response to xenobiotic stimulus (GO:0009410), positive regulation of gene expression (GO:0010628), actin filament-based movement (GO:0030048), skeletal muscle thin filament assembly (GO:0030240), actomyosin structure organization (GO:0031032), actin-myosin filament sliding (GO:0033275), negative regulation of apoptotic process (GO:0043066), response to ethanol (GO:0045471), cardiac myofibril assembly (GO:0055003), cardiac muscle tissue morphogenesis (GO:0055008), heart contraction (GO:0060047), cardiac muscle contraction (GO:0060048), cytoplasmic actin-based contraction involved in cell motility (GO:0060327), mesenchyme migration (GO:0090131)

GO Molecular Function (6): microfilament motor activity (GO:0000146), ATP binding (GO:0005524), hydrolase activity (GO:0016787), myosin binding (GO:0017022), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (17): obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), cytosol (GO:0005829), actin filament (GO:0005884), focal adhesion (GO:0005925), actin cytoskeleton (GO:0015629), membrane (GO:0016020), sarcomere (GO:0030017), lamellipodium (GO:0030027), filopodium (GO:0030175), I band (GO:0031674), cell body (GO:0044297), extracellular exosome (GO:0070062), blood microparticle (GO:0072562), glutamatergic synapse (GO:0098978), cytoskeleton (GO:0005856), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
RHO GTPase cycle	2
Muscle contraction	1
Regulation of CDH1 Expression and Function	1
Non-integrin membrane-ECM interactions	1
Adherens junctions interactions	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Extracellular matrix organization	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
actin cytoskeleton organization	2
actin-mediated cell contraction	2
supramolecular fiber organization	1
response to chemical	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
actin filament-based process	1
actin filament organization	1
skeletal myofibril assembly	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
response to alcohol	1
myofibril assembly	1
cardiac muscle cell development	1
heart morphogenesis	1
cardiac muscle tissue development	1
muscle tissue morphogenesis	1
heart process	1
blood circulation	1
striated muscle contraction	1
heart contraction	1
cell motility	1
mesenchyme morphogenesis	1
tissue migration	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
catalytic activity	1
cytoskeletal protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
actin cytoskeleton	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

148 interactions, top by confidence:

A	B	Type	Score
SMARCB1	ARID1A	psi-mi:“MI:0914”(association)	0.860
DPF2	ARID1A	psi-mi:“MI:0914”(association)	0.730
TWF2	CAP2	psi-mi:“MI:0914”(association)	0.640
BCL7C	ARID1A	psi-mi:“MI:0914”(association)	0.640
DCAF7	PFDN6	psi-mi:“MI:0914”(association)	0.570
ACTC1	CFL1	psi-mi:“MI:0915”(physical association)	0.560
CFL1	ACTC1	psi-mi:“MI:0914”(association)	0.560
ACTC1	MYBPC3	psi-mi:“MI:0915”(physical association)	0.550
MYBPC3	ACTC1	psi-mi:“MI:0915”(physical association)	0.550
DAPK1	SVIL	psi-mi:“MI:0914”(association)	0.530
PHACTR2	POTEI	psi-mi:“MI:0914”(association)	0.530
NDUFA4L2	POTEI	psi-mi:“MI:0914”(association)	0.530
NPB	CST4	psi-mi:“MI:0914”(association)	0.530
CAP2	POTEI	psi-mi:“MI:0914”(association)	0.530
DUSP10	ACTB	psi-mi:“MI:0914”(association)	0.530
REG3A	ACTB	psi-mi:“MI:0914”(association)	0.530
FBXO40	MYO1D	psi-mi:“MI:0914”(association)	0.530
LRRC20	ACTB	psi-mi:“MI:0914”(association)	0.530
TMCC2	CORO1A	psi-mi:“MI:0914”(association)	0.530
ZMYM4	ILVBL	psi-mi:“MI:0914”(association)	0.530
ESR1		psi-mi:“MI:0914”(association)	0.460
RBM45	HNRNPDL	psi-mi:“MI:0914”(association)	0.460
PLA2R1	ACTC1	psi-mi:“MI:0915”(physical association)	0.400
DBN1	ACTC1	psi-mi:“MI:0915”(physical association)	0.400
NLRC3	ACTC1	psi-mi:“MI:0915”(physical association)	0.400
PLCZ1	ACTC1	psi-mi:“MI:0915”(physical association)	0.400
CHRAC1	ACTC1	psi-mi:“MI:0915”(physical association)	0.400
SCYL2	ACTC1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (848): ACTC1 (Affinity Capture-MS), ACTC1 (Affinity Capture-MS), ACTC1 (Affinity Capture-MS), ACTC1 (Two-hybrid), ACTC1 (Affinity Capture-MS), ACTC1 (Affinity Capture-MS), ACTC1 (Affinity Capture-MS), ACTC1 (Affinity Capture-MS), ACTC1 (Affinity Capture-MS), ACTC1 (Affinity Capture-MS), ACTC1 (Affinity Capture-MS), ACTC1 (Affinity Capture-MS), ACTC1 (Reconstituted Complex), ACTC1 (Biochemical Activity), ACTC1 (Affinity Capture-MS)

ESM2 similar proteins: O15998, P04751, P04752, P07829, P0CJ46, P0CJ47, P10995, P12717, P20399, P26198, P27130, P41113, P49055, P53457, P53460, P53465, P53466, P53473, P53475, P53479, P53480, P53482, P62736, P62737, P62738, P62739, P62740, P68032, P68033, P68034, P68035, P68133, P68134, P68135, P68136, P68137, P68138, P68139, P68140, P68264

Diamond homologs: A2WKK5, A2XLF2, A2XNS1, A2ZP58, A3C6D7, D0LWX4, O16808, O18499, O65314, O65315, O65316, O81221, P02576, P04751, P07828, P07830, P07836, P07837, P08023, P0C539, P0C540, P0C542, P0CJ46, P0CJ47, P10981, P12716, P12717, P17126, P17304, P18601, P23343, P24902, P30162, P30164, P30165, P30167, P30168, P30169, P30171, P30172

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
YY1	“down-regulates quantity by repression”	ACTC1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 161 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the embryonic stem cell BAF (esBAF) complex	6	37.2×	5e-06
Formation of the canonical BAF (cBAF) complex	5	32.7×	7e-05
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)	6	28.3×	2e-05
Sensory processing of sound	6	19.1×	9e-05
Regulation of MITF-M-dependent genes involved in pigmentation	5	13.7×	2e-03
Sensory processing of sound by outer hair cells of the cochlea	6	12.6×	8e-04
Sensory processing of sound by inner hair cells of the cochlea	7	11.8×	2e-04
Regulation of actin dynamics for phagocytic cup formation	6	11.4×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
barbed-end actin filament capping	6	35.7×	1e-05
actin polymerization or depolymerization	5	28.4×	3e-04
regulation of G0 to G1 transition	5	25.0×	3e-04
regulation of nucleotide-excision repair	5	22.3×	4e-04
regulation of mitotic metaphase/anaphase transition	5	18.4×	9e-04
cell motility	6	17.8×	3e-04
positive regulation of stem cell population maintenance	5	12.7×	3e-03
positive regulation of double-strand break repair	5	12.7×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

639 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	19
Likely pathogenic	10
Uncertain significance	311
Likely benign	209
Benign	33

Top pathogenic / likely-pathogenic (29)

Variant ID	HGVS	Classification
1284894	NM_005159.5(ACTC1):c.811A>G (p.Met271Val)	Pathogenic
1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	Pathogenic
149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	Pathogenic
155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	Pathogenic
18325	NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser)	Pathogenic
18329	NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)	Pathogenic
18331	NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	Pathogenic
2427227	NC_000015.9:g.(?34526072)(35087019_?)del	Pathogenic
2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	Pathogenic
3063372	GRCh37/hg19 15q14(chr15:34990168-39236311)x1	Pathogenic
3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	Pathogenic
3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	Pathogenic
4682868	GRCh37/hg19 15q14(chr15:34120023-39406778)x1	Pathogenic
57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	Pathogenic
57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	Pathogenic
57878	GRCh38/hg38 15q14(chr15:34588015-39280404)x1	Pathogenic
815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	Pathogenic
815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	Pathogenic
815702	GRCh37/hg19 15q14(chr15:34197488-38656254)x1	Pathogenic
1306876	NM_005159.5(ACTC1):c.635G>C (p.Arg212Pro)	Likely pathogenic
1335942	NM_005159.5(ACTC1):c.344A>G (p.Lys115Arg)	Likely pathogenic
1469293	NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr)	Likely pathogenic
1526046	NM_005159.5(ACTC1):c.663_679dup (p.Asn227fs)	Likely pathogenic
2015662	NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)	Likely pathogenic
2575660	NM_005159.5(ACTC1):c.830A>G (p.His277Arg)	Likely pathogenic
2579718	NM_005159.5(ACTC1):c.1121G>A (p.Arg374His)	Likely pathogenic
4072043	NM_005159.5(ACTC1):c.643A>G (p.Lys215Glu)	Likely pathogenic
4783293	NM_005159.5(ACTC1):c.716A>T (p.Glu239Val)	Likely pathogenic
520471	NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln)	Likely pathogenic

SpliceAI

686 predictions. Top by Δscore:

Variant	Effect	Δscore
15:34791109:TTTAC:T	donor_loss	1.0000
15:34791111:TACCT:T	donor_loss	1.0000
15:34791112:ACCTT:A	donor_loss	1.0000
15:34791113:C:A	donor_loss	1.0000
15:34791296:C:CA	acceptor_loss	1.0000
15:34792085:CTCA:C	donor_loss	1.0000
15:34792086:TCACC:T	donor_loss	1.0000
15:34792088:A:AC	donor_gain	1.0000
15:34792088:AC:A	donor_gain	1.0000
15:34792089:C:CG	donor_gain	1.0000
15:34792089:CC:C	donor_gain	1.0000
15:34792089:CCA:C	donor_gain	1.0000
15:34792089:CCAA:C	donor_gain	1.0000
15:34792277:TTCAG:T	acceptor_gain	1.0000
15:34792278:TCAG:T	acceptor_gain	1.0000
15:34792279:CAG:C	acceptor_gain	1.0000
15:34792279:CAGC:C	acceptor_gain	1.0000
15:34792280:AG:A	acceptor_gain	1.0000
15:34792281:GC:G	acceptor_loss	1.0000
15:34792282:C:CA	acceptor_loss	1.0000
15:34792282:C:CC	acceptor_gain	1.0000
15:34792285:C:CT	acceptor_gain	1.0000
15:34792286:A:T	acceptor_gain	1.0000
15:34792399:CACA:C	donor_gain	1.0000
15:34792401:CA:C	donor_gain	1.0000
15:34792404:TCAC:T	donor_loss	1.0000
15:34792405:CACCA:C	donor_loss	1.0000
15:34792406:A:AC	donor_gain	1.0000
15:34792406:AC:A	donor_gain	1.0000
15:34792406:ACC:A	donor_loss	1.0000

AlphaMissense

2494 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:34790431:A:T	V372D	1.000
15:34790484:G:C	F354L	1.000
15:34790484:G:T	F354L	1.000
15:34790486:A:G	F354L	1.000
15:34790494:A:G	L351P	1.000
15:34790494:A:T	L351Q	1.000
15:34790500:G:T	A349D	1.000
15:34790503:A:G	L348P	1.000
15:34790506:A:T	I347N	1.000
15:34790509:G:A	S346F	1.000
15:34790510:A:G	S346P	1.000
15:34790512:C:A	G345V	1.000
15:34790512:C:T	G345D	1.000
15:34790513:C:G	G345R	1.000
15:34790515:C:A	G344V	1.000
15:34790515:C:T	G344E	1.000
15:34790516:C:A	G344W	1.000
15:34790516:C:G	G344R	1.000
15:34790516:C:T	G344R	1.000
15:34790520:C:A	W342C	1.000
15:34790520:C:G	W342C	1.000
15:34790522:A:G	W342R	1.000
15:34790522:A:T	W342R	1.000
15:34791163:C:G	R314P	1.000
15:34791164:G:T	R314S	1.000
15:34791196:C:A	G303V	1.000
15:34791196:C:T	G303E	1.000
15:34791197:C:G	G303R	1.000
15:34791197:C:T	G303R	1.000
15:34791220:A:G	L295P	1.000

dbSNP variants (sampled 300 via entrez): RS1000527685 (15:34790221 A>C), RS1000593663 (15:34793094 C>G), RS1001337212 (15:34796531 G>T), RS1001866225 (15:34791773 A>T), RS1002070414 (15:34789958 A>T), RS1002080271 (15:34790112 T>A,G), RS1002294264 (15:34792125 C>T), RS1002303685 (15:34797460 G>T), RS1002880953 (15:34795087 G>A), RS1003024164 (15:34795085 G>A), RS1003342438 (15:34795254 A>G), RS1003464651 (15:34795266 C>A,T), RS1003523293 (15:34790451 A>G,T), RS1004432733 (15:34791018 C>A,G,T), RS1006819960 (15:34792664 A>G,T)

Disease associations

OMIM: gene MIM:102540 | disease phenotypes: MIM:612098, MIM:612794, MIM:613424, MIM:616898, MIM:192600, MIM:604169, MIM:115195, MIM:115200

GenCC curated gene-disease

Disease	Classification	Inheritance
hypertrophic cardiomyopathy 11	Definitive	Autosomal dominant
hypertrophic cardiomyopathy	Definitive	Autosomal dominant
atrial septal defect 5	Strong	Autosomal dominant
dilated cardiomyopathy 1R	Strong	Autosomal dominant
dilated cardiomyopathy	Strong	Autosomal dominant
distal arthrogryposis	Strong	Autosomal dominant
arthrogryposis syndrome	Moderate	Autosomal dominant
familial isolated dilated cardiomyopathy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (3)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
hypertrophic cardiomyopathy	Definitive	AD
dilated cardiomyopathy 1R	Moderate	AD
arrhythmogenic right ventricular cardiomyopathy	No Known Disease Relationship	AD

Mondo (16): hypertrophic cardiomyopathy 11 (MONDO:0012799), atrial septal defect 5 (MONDO:0013011), dilated cardiomyopathy 1R (MONDO:0013261), cardiomyopathy (MONDO:0004994), hypertrophic cardiomyopathy (MONDO:0005045), 15q14 microdeletion syndrome (MONDO:0014822), dilated cardiomyopathy (MONDO:0005021), familial hypertrophic cardiomyopathy (MONDO:0024573), left ventricular noncompaction 4 (MONDO:0800350), arthrogryposis (MONDO:0008779), left ventricular noncompaction 1 (MONDO:0011403), hypertrophic cardiomyopathy 2 (MONDO:0007266), dilated cardiomyopathy 1A (MONDO:0007269), (MONDO:0015470), distal arthrogryposis (MONDO:0019942)

Orphanet (10): Interatrial communication (Orphanet:1478), Familial isolated dilated cardiomyopathy (Orphanet:154), Left ventricular noncompaction (Orphanet:54260), Rare cardiomyopathy (Orphanet:167848), Rare hypertrophic cardiomyopathy (Orphanet:217569), Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (Orphanet:261190), Dilated cardiomyopathy (Orphanet:217604), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (Orphanet:300751), NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy (Orphanet:155)

HPO phenotypes

70 total (30 of 70 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000961	Cyanosis
HP:0000969	Edema
HP:0001279	Syncope
HP:0001297	Stroke
HP:0001631	Atrial septal defect
HP:0001633	Abnormal mitral valve morphology
HP:0001635	Congestive heart failure
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001653	Mitral regurgitation
HP:0001663	Ventricular fibrillation
HP:0001681	Angina pectoris
HP:0001684	Secundum atrial septal defect
HP:0001695	Cardiac arrest
HP:0001708	Right ventricular failure
HP:0001712	Left ventricular hypertrophy
HP:0001723	Restrictive cardiomyopathy
HP:0001727	Thromboembolic stroke
HP:0001962	Palpitations
HP:0002090	Pneumonia
HP:0002092	Pulmonary arterial hypertension
HP:0002094	Dyspnea
HP:0002326	Transient ischemic attack
HP:0002718	Recurrent bacterial infections
HP:0002875	Exertional dyspnea
HP:0003198	Myopathy
HP:0003457	EMG abnormality
HP:0003546	Exercise intolerance

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000795_1	Refractive error	2.000000e-14
GCST002115_18	Axial length	4.000000e-11
GCST010002_165	Refractive error	2.000000e-245

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005318	axial length measurement

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D001176	Arthrogryposis	C05.550.150; C05.651.102; C05.660.077; C16.131.621.077
D009202	Cardiomyopathies	C14.280.238
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D024741	Cardiomyopathy, Hypertrophic, Familial	C14.280.238.100.500; C14.280.484.048.750.070.160.500; C16.320.160
C567561	Atrial Septal Defect 5 (supp.)
C567419	Cardiomyopathy, Familial Hypertrophic, 11 (supp.)
C566171	Cardiomyopathy, Familial Hypertrophic, 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066852 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

45 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression	7
methylmercuric chloride	increases expression, affects cotreatment, decreases expression	4
bisphenol A	decreases expression, increases expression	2
sodium arsenite	decreases expression, decreases reaction, increases expression	2
entinostat	decreases expression, affects cotreatment	2
Benzo(a)pyrene	decreases methylation, increases expression, increases methylation	2
Folic Acid	affects expression, increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
p-Chloromercuribenzoic Acid	increases expression, affects cotreatment	2
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
trichostatin A	decreases expression	1
sulforaphane	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
monoisoamyl-2,3-dimercaptosuccinate	decreases expression, decreases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
incobotulinumtoxinA	decreases expression	1
Dasatinib	increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	increases expression, increases abundance	1
Carbamazepine	affects expression	1
Carmustine	decreases expression	1
Cytarabine	decreases expression	1
Succimer	affects cotreatment, decreases expression	1
Dimethyl Sulfoxide	decreases expression, increases expression	1
Doxorubicin	affects expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697640	Binding	Inhibition of ACTC1 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C1SU	CBCHi001-A-1	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

591 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00879060	PHASE4	COMPLETED	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy
NCT01721967	PHASE4	COMPLETED	Ranolazine for the Treatment of Chest Pain in HCM Patients
NCT02948998	PHASE4	UNKNOWN	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy
NCT03249272	PHASE4	TERMINATED	Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
NCT04133532	PHASE4	COMPLETED	Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy
NCT06401343	PHASE4	RECRUITING	Use of SGLT2i in noHCM With HFpEF
NCT07103655	PHASE4	NOT_YET_RECRUITING	The Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction
NCT07600177	PHASE4	RECRUITING	Mavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	PHASE4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432	PHASE4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128	PHASE4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	PHASE4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT00317967	PHASE3	COMPLETED	Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart
NCT00698074	PHASE3	UNKNOWN	Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy
NCT00821353	PHASE3	COMPLETED	Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy
NCT02431221	PHASE3	WITHDRAWN	Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure
NCT03470545	PHASE3	COMPLETED	Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT05174416	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive HCM
NCT05182658	PHASE3	ACTIVE_NOT_RECRUITING	Empagliflozin in Hypertrophic Cardiomyopathy