TNNI3

Summary

TNNI3 (troponin I3, cardiac type, HGNC:11947) is a protein-coding gene on chromosome 19q13.42, encoding Troponin I, cardiac muscle (P19429). Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19.

Source: NCBI Gene 7137 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypertrophic cardiomyopathy (Definitive, ClinGen) — +7 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 863 total — 31 pathogenic, 37 likely-pathogenic
• Phenotypes (HPO): 50
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_000363

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11947
Approved symbol	TNNI3
Name	troponin I3, cardiac type
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	TNNC1, CMH7, cTNI
Ensembl gene	ENSG00000129991
Ensembl biotype	protein_coding
OMIM	191044
Entrez	7137

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 11 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000344887, ENST00000585806, ENST00000586446, ENST00000586669, ENST00000586858, ENST00000587176, ENST00000588882, ENST00000589864, ENST00000590463, ENST00000665070, ENST00000714235, ENST00000714236, ENST00000714237, ENST00000714238, ENST00000714239, ENST00000714240, ENST00000955279, ENST00000955280, ENST00000955281, ENST00000955282

RefSeq mRNA: 1 — MANE Select: NM_000363 NM_000363

CCDS: CCDS42628

Canonical transcript exons

ENST00000344887 — 8 exons

Exon	Start	End
ENSE00003489779	55157296	55157308
ENSE00004023269	55151767	55151917
ENSE00004023270	55157050	55157133
ENSE00004023271	55156603	55156644
ENSE00004023273	55154741	55154830
ENSE00004023276	55154030	55154206
ENSE00004023277	55157579	55157732
ENSE00004023278	55156201	55156332

Expression profiles

Bgee: expression breadth ubiquitous, 169 present calls, max score 99.96.

FANTOM5 (CAGE): breadth broad, TPM avg 12.5057 / max 3992.6367, expressed in 368 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182721	10.1406	129
182719	0.7662	197
182717	0.5907	243
182718	0.5281	245
182716	0.3782	125
182715	0.0573	20
182720	0.0446	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.96	gold quality
left ventricle myocardium	UBERON:0006566	99.92	gold quality
right atrium auricular region	UBERON:0006631	99.90	gold quality
cardiac atrium	UBERON:0002081	99.88	gold quality
heart right ventricle	UBERON:0002080	99.81	gold quality
myocardium	UBERON:0002349	99.74	gold quality
cardiac ventricle	UBERON:0002082	99.70	gold quality
heart left ventricle	UBERON:0002084	99.69	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.61	gold quality
vena cava	UBERON:0004087	98.17	gold quality
adrenal tissue	UBERON:0018303	96.08	gold quality
heart	UBERON:0000948	95.76	gold quality
right uterine tube	UBERON:0001302	92.92	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.35	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.75	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.42	gold quality
gastrocnemius	UBERON:0001388	83.21	gold quality
right testis	UBERON:0004534	83.05	gold quality
left testis	UBERON:0004533	82.16	gold quality
muscle of leg	UBERON:0001383	81.21	gold quality
testis	UBERON:0000473	80.05	gold quality
gluteal muscle	UBERON:0002000	79.04	silver quality
muscle organ	UBERON:0001630	77.47	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	76.96	gold quality
amygdala	UBERON:0001876	73.07	gold quality
skin of abdomen	UBERON:0001416	72.54	gold quality
skin of leg	UBERON:0001511	71.68	gold quality
left adrenal gland cortex	UBERON:0035825	70.29	gold quality
upper lobe of left lung	UBERON:0008952	70.04	gold quality
muscle tissue	UBERON:0002385	69.96	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-8381	yes	551.21
E-GEOD-134144	yes	31.61
E-MTAB-8271	yes	6.37
E-MTAB-11268	no	1942.74
E-ANND-3	no	2.53

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA4, HIF1A, MEF2A, MEF2C, MEF2D, SP1, YY1

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

• review of current knowledge of cTnI and its relationship with unstable angina and non-ischemic cardiac damage. (PMID:11596911)
• TROPONIN I mutations in familial hypertrophic cardiomyopathy affect the regulatory processes involving TROPONIN I and increased the Ca(2+) sensitivity of cardiac muscle contraction (PMID:11735257)
• Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy (PMID:11801593)
• Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility (PMID:11853553)
• Bisphosphorylated cTnI arm does not interact with cTnC, but with cTnT and/or cTnI. (PMID:11904166)
• Perturbations of Thr142 phosphorylation and mutation Arg145Gly of the inhibitory region of cardiac troponin I (cIp) have an adverse effect on the binding of cIp to the Ca2+-saturated C-domain of cardiac troponin C. (PMID:12044157)
• single mutation corrects acid pH sensitivity of Ca2+-regulated actomyosin S1 ATPase (PMID:12151382)
• Cardiac troponin-I is not abnormally expressed in skeletal muscle of patients with ESRD (end stage renal disease) (PMID:12270775)
• the binding of the inhibitory region of troponin I to F-actin produces a conformational change in the actin monomer with the result that interaction at different locations of F-actin is impeded. (PMID:12383268)
• Several independent lines of evidence reveal that TNNI3 interacts with the carboxyl terminal domain (D682-V968) of polycystin 2. (PMID:12525172)
• interacts specifically with TNNI3K (PMID:12721663)
• Structure and dynamics of the C-domain of human cardiac troponin C in complex with the inhibitory region of human cardiac troponin I. (PMID:12732641)
• Plasma levels may be reliable markers of heart transplantation outcomes. (PMID:12826210)
• crystal structure of two kinds of core domain of human cardiac troponin in the Ca2+-saturated form; one at 2.6 A resolution and the other at 3.3 A resolution (PMID:12840750)
• A mutant TNNC1 (recombinant protein)interacted with levosimendan and cardiac troponin I peptides. (PMID:12967628)
• cTnI proteolysis may contribute to the pathophysiology of myocardial stunning by altering the Ca2+-sensing and chemomechanical properties of the myofilaments (PMID:14551240)
• Calpain-dependent degradation of troponin I mutants was found in familial hypertrophic cardiomyopathy. (PMID:14575308)
• Phosphorylation of mutant cardiac troponin I is linked to familial hypertrophic cardiomyopathy. (PMID:14596793)
• Modification of cardiac troponin I (cTnI) can have a pronounced effect on the binding affinity of cTnI for cardiac troponin C, which may correlate with altered cTnI myofilament function and cardiac muscle contraction under pathophysiological conditions. (PMID:14661957)
• The unphosphorylated N-terminal extension of cardiac troponin I binds to the N-terminal domain of troponin C via residues immediately terminal to the phosphorylation sites S22 and S23. Bisphosphorylation greatly weakens this binding interaction. (PMID:15049709)
• a novel TNNI3 mutation in a family with recessive disease. Functional studies showed impairment of troponin interactions that could lead to diminished myocardial contractility. TNNI3 is the first recessive gene identified for this condition. (PMID:15070570)
• Results confirm that the phosphorylation switch of cardiac troponin (Tn) I binds to troponin C via an extended interaction site spanning residues arginine-19 to alanine-34. (PMID:15134451)
• Data suggest that activation of cardiac myofilaments is tightly coupled to the open state of the N-domain of cardiac troponin C, and that pathological effects of phosphorylation are influenced by mutations in cardiac troponin I. (PMID:15147183)
• cardiac troponin I may have a role in shock and progression to organ failure leading to mortality (PMID:15257080)
• Can be used as a valid marker of acute myocardial injury in patients on maintenance dialysis. (PMID:15350489)
• NT-proBNP, cTnT, or cTnI do not have roles in acute ischemic stroke when other risk factors are considered (PMID:15604421)
• The clinical expression of cardiac troponin I mutations was very heterogeneous and varied both within and between families with no apparent mutation- or gene-specific disease pattern. (PMID:15607392)
• Gene mutations in cardiac troponin I occur in Australian families with hypertrophic cardiomyopathy with a prevalence higher than previously reported and may be associated with a clinically more malignant course (PMID:15698845)
• Impairment in the regulatory function of cardiac troponin TnI by the mutation Arg145Gly leads to modulations in crossbridge kinetics that significantly alter the dynamics of myofibrillar contraction and relaxation. (PMID:15718266)
• An inhibitory domain mutation,cTnI(146Gly), was modeled; cTnI(146Gly) expression led to a leftward shift in the force-pCa2+ curves with cardiomyocyte disarray, fibrosis, and altered connexin43 organization. (PMID:15867176)
• Data show that mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development. (PMID:15961398)
• The crystal structure of troponin suggests that the Ca2+-binding to the regulatory TnC site displaces the N-terminal portion of TnI from actin/tropomyosin, thereby altering mobility/flexibility of the troponin/tropomyosin strand on the actin filament. (PMID:16157639)
• both hypertrophic cardiomyopathy and restrictive cardiomyopathy involving cardiac troponin I mutations share a common feature of increased Ca2+ sensitivity of cardiac myofilament (PMID:16288990)
• Results imply a hindered transduction of the protein kinase A phosphorylation signal from cardiac troponin I to troponin C. (PMID:16302972)
• Cardiac troponin I increases after exercise in athletes. (PMID:16338248)
• The yeast cotransformation and GST fusion protein assay demonstrated the interaction between this new DSCR1L2 variant and the human cardiac troponin I. (PMID:16516408)
• beta1-adrenergic receptors are upregulated and troponin I is dephosphorylated in end-stage heart failure patients supported by ventricular assist devices (PMID:16765375)
• IgG antibodies to TpnI are increased in a significant number of patients with both idiopathic dilated and ischemic cardiomyopathy, yet it appears that these autoantibodies cannot bind heart muscle cells or influence [Ca2+]i transients (PMID:16887211)
• spectrum of mutations in cardiac hypertrophy patients (PMID:17101185)
• Mutations of cardiac troponin I that exhibit increased Ca2+ sensitivity could affect the Ca2+ transient and mechanical response of a myocyte during a single cardiac cycle. (PMID:17140583)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tnni3	ENSMUSG00000035458
rattus_norvegicus	Tnni3	ENSRNOG00000018250
drosophila_melanogaster	wupA	FBGN0283471
caenorhabditis_elegans		WBGENE00006584
caenorhabditis_elegans		WBGENE00006585
caenorhabditis_elegans		WBGENE00006586
caenorhabditis_elegans		WBGENE00006764

Paralogs (2): TNNI2 (ENSG00000130598), TNNI1 (ENSG00000159173)

Protein

Protein identifiers

Troponin I, cardiac muscle — P19429 (reviewed: P19429)

Alternative names: Cardiac troponin I

All UniProt accessions (10): P19429, A0A590UJN1, A0AAQ5BHN0, A0AAQ5BHN5, A0AAQ5BHQ8, A0AAQ5BHR0, A0AAQ5BHW5, K7EJP0, K7EN02, Q6FGX2

UniProt curated annotations — full annotation on UniProt →

Function. Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

Subunit / interactions. Binds to actin and tropomyosin. Interacts with TRIM63. Interacts with STK4/MST1.

Post-translational modifications. Phosphorylated at Ser-42 and Ser-44 by PRKCE; phosphorylation increases myocardium contractile dysfunction. Phosphorylated at Ser-23 and Ser-24 by PRKD1; phosphorylation reduces myofilament calcium sensitivity. Phosphorylated preferentially at Thr-31. Phosphorylation by STK4/MST1 alters its binding affinity to TNNC1 (cardiac Tn-C) and TNNT2 (cardiac Tn-T).

Disease relevance. Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] 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. Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. The disease is caused by variants affecting the gene represented in this entry. Cardiomyopathy, dilated, 2A (CMD2A) [MIM:611880] 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, dilated, 1FF (CMD1FF) [MIM:613286] 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.

Similarity. Belongs to the troponin I family.

RefSeq proteins (1): NP_000354* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001978	Troponin	Family
IPR021666	Troponin-I_N	Family
IPR038077	Troponin_sf	Homologous_superfamily
IPR050875	Troponin_I	Family

Pfam: PF00992, PF11636

UniProt features (54 total): sequence variant 23, modified residue 18, helix 6, region of interest 3, site 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

39 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8DZV	X-RAY DIFFRACTION	1.2
7SC2	X-RAY DIFFRACTION	1.81
4Y99	X-RAY DIFFRACTION	2
7SC3	X-RAY DIFFRACTION	2.23
1J1D	X-RAY DIFFRACTION	2.61
8FMO	X-RAY DIFFRACTION	2.61
8FMT	X-RAY DIFFRACTION	2.8
8FMN	X-RAY DIFFRACTION	3.1
8FMM	X-RAY DIFFRACTION	3.11
8FMR	X-RAY DIFFRACTION	3.24
8FMP	X-RAY DIFFRACTION	3.24
8FMQ	X-RAY DIFFRACTION	3.25
1J1E	X-RAY DIFFRACTION	3.3
8FMS	X-RAY DIFFRACTION	3.44
6KN8	ELECTRON MICROSCOPY	4.8
7UTI	ELECTRON MICROSCOPY	4.8
6KN7	ELECTRON MICROSCOPY	6.6
7UTL	ELECTRON MICROSCOPY	6.6
1LXF	SOLUTION NMR
1MXL	SOLUTION NMR
1OZS	SOLUTION NMR
2KGB	SOLUTION NMR
2KRD	SOLUTION NMR
2L1R	SOLUTION NMR
2MZP	SOLUTION NMR
2N7L	SOLUTION NMR
5VLN	SOLUTION NMR
5W88	SOLUTION NMR
5WCL	SOLUTION NMR
6MV3	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P19429-F1	78.69	0.42

Antibody-complex structures (SAbDab): 1 — 8DZV

Functional residue map

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

Catalytic / active sites (2): 80 (involved in tni-tnt interactions); 97 (involved in tni-tnt interactions)

Post-translational modifications (18): 23, 24, 26, 31, 42, 44, 51, 77, 78, 129, 143, 150, 166, 181, 199, 2, 5, 6

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-390522	Striated Muscle Contraction
R-HSA-5578775	Ion homeostasis

MSigDB gene sets: 423 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, GOBP_SKELETAL_MUSCLE_ADAPTATION, GOBP_NEGATIVE_REGULATION_OF_ATP_DEPENDENT_ACTIVITY, GOBP_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE, GOBP_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION, TGACCTY_ERR1_Q2, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, MEF2_02, GGGTGGRR_PAX4_03, GOBP_SKELETAL_MUSCLE_CONTRACTION

GO Biological Process (14): vasculogenesis (GO:0001570), regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980), skeletal muscle contraction (GO:0003009), intracellular calcium ion homeostasis (GO:0006874), regulation of smooth muscle contraction (GO:0006940), heart development (GO:0007507), regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882), muscle filament sliding (GO:0030049), negative regulation of ATP-dependent activity (GO:0032780), ventricular cardiac muscle tissue morphogenesis (GO:0055010), heart contraction (GO:0060047), cardiac muscle contraction (GO:0060048), regulation of muscle contraction (GO:0006937), striated muscle contraction (GO:0006941)

GO Molecular Function (9): actin binding (GO:0003779), calcium channel inhibitor activity (GO:0019855), protein kinase binding (GO:0019901), protein domain specific binding (GO:0019904), troponin C binding (GO:0030172), troponin T binding (GO:0031014), calcium-dependent protein binding (GO:0048306), actin filament binding (GO:0051015), protein binding (GO:0005515)

GO Cellular Component (8): cytosol (GO:0005829), troponin complex (GO:0005861), sarcomere (GO:0030017), cardiac myofibril (GO:0097512), cardiac Troponin complex (GO:1990584), cytoplasm (GO:0005737), myofibril (GO:0030016), contractile muscle fiber (GO:0043292)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Muscle contraction	1
Cardiac conduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
muscle contraction	3
cytoskeletal protein binding	3
cellular anatomical structure	3
striated muscle contraction	2
protein binding	2
cytoplasm	2
myofibril	2
cell differentiation	1
blood vessel morphogenesis	1
nervous system process involved in regulation of systemic arterial blood pressure	1
musculoskeletal movement	1
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
regulation of muscle contraction	1
smooth muscle contraction	1
animal organ development	1
circulatory system development	1
calcium-mediated signaling	1
regulation of cardiac muscle contraction	1
cardiac muscle contraction	1
actin-myosin filament sliding	1
regulation of ATP-dependent activity	1
negative regulation of molecular function	1
ATP-dependent activity	1
cardiac ventricle morphogenesis	1
ventricular cardiac muscle tissue development	1
cardiac muscle tissue morphogenesis	1
heart process	1
blood circulation	1
heart contraction	1
regulation of muscle system process	1
calcium channel regulator activity	1
calcium channel activity	1
ion channel inhibitor activity	1
kinase binding	1
calcium ion binding	1
actin binding	1
protein-containing complex binding	1
binding	1
striated muscle thin filament	1

Protein interactions and networks

STRING

1744 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TNNI3	TNNT2	P45379	999
TNNI3	TNNI3K	Q59H18	972
TNNI3	V9GXZ4	V9GXZ4	968
TNNI3	MYBPC3	Q14896	966
TNNI3	ACTC1	P04270	937
TNNI3	TNNT1	P13805	934
TNNI3	MYH7	P12883	931
TNNI3	TPM1	P09493	930
TNNI3	MYL3	P08590	899
TNNI3	NPPB	P16860	874
TNNI3	MYL2	P10916	872
TNNI3	TNNC1	P02590	863
TNNI3	MYH6	P13533	861
TNNI3	CSRP3	P50461	845
TNNI3	TTN	Q8WZ42	829

IntAct

47 interactions, top by confidence:

A	B	Type	Score
TNNI3	TNNC1	psi-mi:“MI:2364”(proximity)	0.670
TNNI3	TNNC1	psi-mi:“MI:0915”(physical association)	0.670
TNNC1	TNNI3	psi-mi:“MI:0915”(physical association)	0.670
TNNI3	IFNA4	psi-mi:“MI:0915”(physical association)	0.590
TNNI3	TNNC2	psi-mi:“MI:0915”(physical association)	0.560
RASSF10	TNNI3	psi-mi:“MI:0915”(physical association)	0.560
TNNI3	PEX1	psi-mi:“MI:0915”(physical association)	0.560
TNNI3	WFS1	psi-mi:“MI:0915”(physical association)	0.560
RCAN3	TNNI3	psi-mi:“MI:0915”(physical association)	0.530
RCAN3	TNNI3	psi-mi:“MI:0407”(direct interaction)	0.530
TNNI3K	TNNI3	psi-mi:“MI:0915”(physical association)	0.510
TNNI3	PDE4DIP	psi-mi:“MI:0915”(physical association)	0.440
PDE4DIP	TNNI3	psi-mi:“MI:0915”(physical association)	0.440
PDE4DIP	TNNI3	psi-mi:“MI:0403”(colocalization)	0.440
CALM1	TNNI3	psi-mi:“MI:0407”(direct interaction)	0.440
TNNI3K	TNNI3	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (45): TNNI3 (Two-hybrid), TNNI3 (Two-hybrid), TNNI3 (Two-hybrid), TNNI3 (Two-hybrid), TNNI3 (Two-hybrid), TNNI3 (Two-hybrid), TNNI3 (Affinity Capture-MS), TNNI3 (Biochemical Activity), TNNC2 (Two-hybrid), IFNA4 (Affinity Capture-MS), TNNI3 (Affinity Capture-Western), MST1 (Affinity Capture-Western), TNNI3 (Biochemical Activity), TNNC1 (Reconstituted Complex), TNNT2 (Reconstituted Complex)

ESM2 similar proteins: A0A8I6A2H6, A2AQ19, A4IG32, A5D7A0, D4A1F2, F1MF74, O12940, O14730, O35685, O43395, O43815, O55106, O60784, O88448, O88746, O94851, P08057, P13789, P19429, P50751, P70483, P97366, Q13435, Q17QG2, Q17QM6, Q1RMT7, Q2KIA6, Q3UJB0, Q4FZY0, Q5PQM2, Q5PYI0, Q5R5F1, Q5RDI4, Q63525, Q863B6, Q86XE3, Q8BML1, Q8MKD5, Q922U1, Q92541

Diamond homologs: O44572, P02643, P02645, P02646, P08057, P13412, P13413, P19237, P19429, P23693, P27672, P27673, P27768, P36188, P48787, P48788, P50754, P68246, P68247, Q20334, Q5PYI0, Q7M3Y3, Q863B6, Q8MKD5, Q969A1, Q9GYF1, Q9WUZ5, P05547, P06398, Q9XUN9

SIGNOR signaling

28 interactions.

A	Effect	B	Mechanism
PAK3	down-regulates	TNNI3	phosphorylation
PPP2CA	down-regulates	TNNI3	dephosphorylation
PRKACA	“up-regulates activity”	TNNI3	phosphorylation
PRKCA	down-regulates	TNNI3	phosphorylation
PRKCB	down-regulates	TNNI3	phosphorylation
PRKCG	down-regulates	TNNI3	phosphorylation
PRKG1	“up-regulates activity”	TNNI3	phosphorylation
PRKCD	“up-regulates activity”	TNNI3	phosphorylation
PRKCD	down-regulates	TNNI3	phosphorylation
STK4	unknown	TNNI3	phosphorylation
PAK3	unknown	TNNI3	phosphorylation
PRKCA	unknown	TNNI3	phosphorylation
PRKCA	“up-regulates activity”	TNNI3	phosphorylation
PRKCA	“down-regulates activity”	TNNI3	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	31
Likely pathogenic	37
Uncertain significance	412
Likely benign	252
Benign	23

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
12419	NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)	Pathogenic
12420	NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln)	Pathogenic
12423	NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly)	Pathogenic
12424	NM_000363.5(TNNI3):c.575G>A (p.Arg192His)	Pathogenic
12425	NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)	Pathogenic
12426	NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	Pathogenic
12428	NM_000363.5(TNNI3):c.431T>A (p.Leu144Gln)	Pathogenic
12430	NM_000363.5(TNNI3):c.106A>C (p.Lys36Gln)	Pathogenic
12431	NM_000363.5(TNNI3):c.555C>G (p.Asn185Lys)	Pathogenic
12432	NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser)	Pathogenic
12433	NM_000363.5(TNNI3):c.547_549del (p.Lys183del)	Pathogenic
12434	NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys)	Pathogenic
1409842	NM_000363.5(TNNI3):c.549G>T (p.Lys183Asn)	Pathogenic
1449490	NC_000019.9:g.(?55667549)(55668957_?)del	Pathogenic
1686263	NM_000363.5(TNNI3):c.130T>G (p.Ser44Ala)	Pathogenic
180551	NM_000363.5(TNNI3):c.522G>C (p.Lys174Asn)	Pathogenic
181586	NM_000363.5(TNNI3):c.547A>G (p.Lys183Glu)	Pathogenic
181587	NM_000363.5(TNNI3):c.548A>C (p.Lys183Thr)	Pathogenic
181593	NM_000363.5(TNNI3):c.616A>G (p.Lys206Glu)	Pathogenic
181594	NM_000363.5(TNNI3):c.617A>T (p.Lys206Ile)	Pathogenic
1994254	NM_000363.5(TNNI3):c.509G>C (p.Arg170Pro)	Pathogenic
2088003	NM_000363.5(TNNI3):c.98del (p.Pro33fs)	Pathogenic
235062	NM_000363.5(TNNI3):c.523C>T (p.Gln175Ter)	Pathogenic
2798268	NM_000363.5(TNNI3):c.187C>T (p.Arg63Ter)	Pathogenic
3706410	NM_000363.5(TNNI3):c.55_58del (p.Ile19fs)	Pathogenic
3716789	NM_000363.5(TNNI3):c.154_155del (p.Leu52fs)	Pathogenic
3723680	NM_000363.5(TNNI3):c.280C>T (p.Gln94Ter)	Pathogenic
3775215	NM_000363.5(TNNI3):c.295C>T (p.Gln99Ter)	Pathogenic
525007	NM_000363.5(TNNI3):c.190G>T (p.Glu64Ter)	Pathogenic
625672	GRCh37/hg19 19q13.42(chr19:55652193-55665240)	Pathogenic

SpliceAI

1361 predictions. Top by Δscore:

Variant	Effect	Δscore
19:55154028:A:AC	donor_gain	1.0000
19:55154028:AC:A	donor_gain	1.0000
19:55154029:C:CT	donor_gain	1.0000
19:55154029:CC:C	donor_gain	1.0000
19:55154029:CCTT:C	donor_gain	1.0000
19:55154203:CAAT:C	acceptor_gain	1.0000
19:55154205:AT:A	acceptor_gain	1.0000
19:55154207:C:CC	acceptor_gain	1.0000
19:55154736:C:A	donor_gain	1.0000
19:55154738:CA:C	donor_loss	1.0000
19:55154742:T:TA	donor_gain	1.0000
19:55154755:TGGTG:T	donor_gain	1.0000
19:55154826:AAGTC:A	acceptor_gain	1.0000
19:55156154:CTG:C	donor_gain	1.0000
19:55157280:AG:A	donor_gain	1.0000
19:55157577:AC:A	donor_gain	1.0000
19:55157578:CC:C	donor_gain	1.0000
19:55154029:CCT:C	donor_gain	0.9900
19:55154204:AAT:A	acceptor_gain	0.9900
19:55154214:C:CT	acceptor_gain	0.9900
19:55154743:C:A	donor_gain	0.9900
19:55154766:G:A	donor_gain	0.9900
19:55154827:AGTC:A	acceptor_gain	0.9900
19:55154828:GTC:G	acceptor_gain	0.9900
19:55154829:TC:T	acceptor_gain	0.9900
19:55154830:CC:C	acceptor_gain	0.9900
19:55154830:CCT:C	acceptor_loss	0.9900
19:55154831:C:CC	acceptor_gain	0.9900
19:55156153:A:AC	donor_gain	0.9900
19:55156154:C:CC	donor_gain	0.9900

AlphaMissense

1356 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:55151894:C:A	W191C	0.999
19:55151894:C:G	W191C	0.999
19:55151896:A:G	W191R	0.999
19:55151896:A:T	W191R	0.999
19:55151893:G:T	R192S	0.998
19:55154196:A:G	L128P	0.998
19:55151843:A:C	F208L	0.997
19:55151843:A:T	F208L	0.997
19:55151845:A:G	F208L	0.997
19:55151892:C:G	R192P	0.996
19:55151895:C:G	W191S	0.996
19:55154057:C:A	K174N	0.996
19:55154057:C:G	K174N	0.996
19:55154141:T:A	R146S	0.996
19:55154141:T:G	R146S	0.996
19:55156618:T:A	R45S	0.996
19:55156618:T:G	R45S	0.996
19:55154162:A:C	F139L	0.995
19:55154162:A:T	F139L	0.995
19:55154164:A:G	F139L	0.995
19:55156603:C:A	K50N	0.995
19:55156603:C:G	K50N	0.995
19:55151857:G:T	R204S	0.994
19:55156607:A:G	L49P	0.994
19:55156619:C:A	R45I	0.994
19:55156619:C:G	R45T	0.994
19:55154148:A:T	L144Q	0.993
19:55151852:C:A	K205N	0.992
19:55151852:C:G	K205N	0.992
19:55154059:T:C	K174E	0.992

dbSNP variants (sampled 300 via entrez): RS1000432255 (19:55154579 A>G), RS1000664929 (19:55152984 C>T), RS1001204026 (19:55153502 G>A), RS1001722246 (19:55156094 G>A,C,T), RS1001943340 (19:55153570 T>C), RS1002459450 (19:55153805 C>T), RS1004452697 (19:55157181 G>C), RS1005194590 (19:55156171 T>G), RS1005410944 (19:55158727 C>A,T), RS1005638211 (19:55155032 C>A), RS1006359783 (19:55152528 A>T), RS1006667799 (19:55158926 G>A,C,T), RS1006701954 (19:55152040 G>A,C,T), RS1007339293 (19:55156004 G>A,C), RS1007350495 (19:55154626 T>A,C)

Disease associations

OMIM: gene MIM:191044 | disease phenotypes: MIM:115210, MIM:611880, MIM:613690, MIM:613286, MIM:105210, MIM:192600, MIM:115200, MIM:605355, MIM:614742

GenCC curated gene-disease

Disease	Classification	Inheritance
dilated cardiomyopathy 2A	Definitive	Autosomal recessive
hypertrophic cardiomyopathy	Definitive	Autosomal dominant
hypertrophic cardiomyopathy 7	Definitive	Autosomal dominant
cardiomyopathy, familial restrictive, 1	Strong	Autosomal dominant
dilated cardiomyopathy 1FF	Strong	Autosomal dominant
familial isolated dilated cardiomyopathy	Supportive	Autosomal dominant
familial isolated restrictive cardiomyopathy	Supportive	Autosomal dominant
arrhythmogenic right ventricular cardiomyopathy	No Known Disease Relationship	Autosomal dominant

ClinGen Gene-Disease Validity (4)

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

Disease	Classification	Inheritance
arrhythmogenic right ventricular cardiomyopathy	No Known Disease Relationship	AD
hypertrophic cardiomyopathy	Definitive	AD
dilated cardiomyopathy 1FF	Strong	AD
dilated cardiomyopathy 2A	Strong	AR

Mondo (22): hypertrophic cardiomyopathy (MONDO:0005045), cardiomyopathy (MONDO:0004994), cardiomyopathy, familial restrictive, 1 (MONDO:0007270), dilated cardiomyopathy 2A (MONDO:0012746), hypertrophic cardiomyopathy 7 (MONDO:0013369), dilated cardiomyopathy 1FF (MONDO:0013211), amyloidosis, hereditary systemic 1 (MONDO:0971004), familial hypertrophic cardiomyopathy (MONDO:0024573), restrictive cardiomyopathy (MONDO:0005201), myocarditis (MONDO:0004496), dilated cardiomyopathy (MONDO:0005021), familial dilated cardiomyopathy (MONDO:0016333), nemaline myopathy 5 (MONDO:0011539), pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 (MONDO:0013878), hypertrophic cardiomyopathy 1 (MONDO:0008647)

Orphanet (15): Rare hypertrophic cardiomyopathy (Orphanet:217569), Rare cardiomyopathy (Orphanet:167848), Familial isolated dilated cardiomyopathy (Orphanet:154), Familial isolated restrictive cardiomyopathy (Orphanet:75249), ATTRV30M amyloidosis (Orphanet:85447), ATTRV122I amyloidosis (Orphanet:85451), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Restrictive cardiomyopathy (Orphanet:217632), Dilated cardiomyopathy (Orphanet:217604), Familial dilated cardiomyopathy (Orphanet:217607), Amish nemaline myopathy (Orphanet:98902), Idiopathic aplastic anemia (Orphanet:88), Familial restrictive cardiomyopathy (Orphanet:217635), Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (Orphanet:300751), NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy (Orphanet:155)

HPO phenotypes

50 total (30 of 50 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000969	Edema
HP:0001279	Syncope
HP:0001297	Stroke
HP:0001635	Congestive heart failure
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001653	Mitral regurgitation
HP:0001712	Left ventricular hypertrophy
HP:0001714	Ventricular hypertrophy
HP:0001716	Wolff-Parkinson-White syndrome
HP:0001723	Restrictive cardiomyopathy
HP:0001727	Thromboembolic stroke
HP:0001907	Thromboembolism
HP:0002094	Dyspnea
HP:0002119	Ventriculomegaly
HP:0002205	Recurrent respiratory infections
HP:0002240	Hepatomegaly
HP:0002875	Exertional dyspnea
HP:0003198	Myopathy
HP:0003457	EMG abnormality
HP:0003581	Adult onset
HP:0003596	Middle age onset
HP:0003621	Juvenile onset
HP:0005110	Atrial fibrillation
HP:0005115	Supraventricular arrhythmia
HP:0005162	Abnormal left ventricular function

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST90002393_674	Monocyte count	7.000000e-14
GCST90002402_574	Platelet count	5.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005091	monocyte count
EFO:0004309	platelet count

MeSH disease descriptors (12)

Descriptor	Name	Tree numbers
D019571	Arrhythmogenic Right Ventricular Dysplasia	C14.240.400.145; C14.280.238.028; C14.280.400.145; C16.131.240.400.145
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
D002313	Cardiomyopathy, Restrictive	C14.280.238.160
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
D009205	Myocarditis	C14.280.238.625
C567654	Cardiomyopathy, Dilated, 1FF (supp.)
C566168	Cardiomyopathy, Familial Restrictive, 1 (supp.)
C538397	Nemaline myopathy 5 (supp.)
C536231	familial dilated cardiomyopathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2095202 (PROTEIN COMPLEX)

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

ChEMBL bioactivities

81 potent at pChembl≥5 of 118 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.78	EC50	164.6	nM	CHEMBL3195681
6.78	EC50	165.1	nM	CHEMBL1581326
6.72	EC50	190.7	nM	CHEMBL3195851
6.55	EC50	278.9	nM	CHEMBL1468444
6.54	EC50	286.9	nM	CHEMBL1379673
6.40	EC50	397	nM	CHEMBL1477915
6.38	EC50	413	nM	CHEMBL1398812
6.30	EC50	500.5	nM	CHEMBL1369691
6.29	EC50	515.8	nM	CHEMBL1573529
6.25	IC50	558.1	nM	PYROGALLOL RED
6.25	EC50	565.4	nM	CHEMBL3197404
6.21	EC50	615.4	nM	CHEMBL1388372
6.17	IC50	676.8	nM	CHEMBL1425538
6.13	EC50	742	nM	CHEMBL1604510
6.12	EC50	760.7	nM	CHEMBL1550816
6.07	EC50	852.9	nM	CHEMBL1725987
6.06	EC50	869.6	nM	CHEMBL1586687
5.96	EC50	1101	nM	CHEMBL1975147
5.95	EC50	1113	nM	CHEMBL1313968
5.94	EC50	1143	nM	CHEMBL1429070
5.94	EC50	1137	nM	CHEMBL1310204
5.92	EC50	1209	nM	CHEMBL1713654
5.86	EC50	1369	nM	CHEMBL1501273
5.84	EC50	1438	nM	CHEMBL1977499
5.83	EC50	1465	nM	CHEMBL1499258
5.81	EC50	1537	nM	CHEMBL1542169
5.81	EC50	1548	nM	CHEMBL1574521
5.80	EC50	1577	nM	CHEMBL1407632
5.79	IC50	1640	nM	CHEMBL1563898
5.74	IC50	1819	nM	CHEMBL1356785
5.74	EC50	1830	nM	CHEMBL1586067
5.73	EC50	1863	nM	CHEMBL1971695
5.73	EC50	1878	nM	CHEMBL1576905
5.70	EC50	1981	nM	CHEMBL1701437
5.69	EC50	2022	nM	CHEMBL1466913
5.66	EC50	2177	nM	CHEMBL1576602
5.65	EC50	2218	nM	CHEMBL1462008
5.62	EC50	2385	nM	CHEMBL1540557
5.59	EC50	2576	nM	CHEMBL1466606
5.59	EC50	2574	nM	CHEMBL1725983
5.57	IC50	2724	nM	CHEMBL1362935
5.57	EC50	2706	nM	CHEMBL1557186
5.56	EC50	2780	nM	CHEMBL2004884
5.54	EC50	2901	nM	CHEMBL1547468
5.54	EC50	2918	nM	CHEMBL1311198
5.50	IC50	3191	nM	CHEMBL1601846
5.48	EC50	3326	nM	CHEMBL1596655
5.46	IC50	3446	nM	CHEMBL1424694
5.44	IC50	3615	nM	PURPUROGALLIN
5.43	EC50	3734	nM	CHEMBL1594911

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression, affects expression	4
Doxorubicin	affects expression, decreases expression	4
Valproic Acid	increases expression, increases methylation, affects expression	3
methylmercuric chloride	decreases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Cisplatin	affects expression, affects cotreatment, increases expression	2
Cyclophosphamide	increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	affects expression, decreases expression	2
dicrotophos	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression, increases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression, affects cotreatment	1
ponatinib	increases secretion	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Acetaminophen	increases expression	1
Aldehydes	increases expression	1
Aspirin	increases expression	1
Cadmium	decreases expression	1
Carbamazepine	affects expression	1
Cocaine	increases secretion	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1738244	Binding	PUBCHEM_BIOASSAY: Fluorescence-based biochemical high throughput dose response assay for inhibitors of the calcium sensitivity of cardiac Regulated Thin Filaments (RTF). (Class of assay: confirmatory) [Related pubchem assays (depositor defi	PubChem BioAssay data set

Cellosaurus cell lines

3 cell lines: 3 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_B0PJ	SCVIi017-A	Induced pluripotent stem cell	Female
CVCL_B0PK	SCVIi018-A	Induced pluripotent stem cell	Male
CVCL_B0PL	SCVIi019-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

254 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
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
NCT05186818	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Placebo in Adults With Symptomatic oHCM
NCT05767346	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Metoprolol Succinate in Adults With Symptomatic oHCM
NCT06116968	PHASE3	COMPLETED	An Open-Label Study of Aficamten for Chinese Patients With Symptomatic oHCM
NCT06873828	PHASE3	NOT_YET_RECRUITING	Evaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter MonitoringEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter Monitoring
NCT07021976	PHASE3	RECRUITING	A Phase III Trial of HRS-1893 in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT07023341	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT07202897	PHASE3	NOT_YET_RECRUITING	LA-HCM Study : Rivaroxaban for Antithrombotic Prevention in Hypertrophic Cardiomyopathy Patients With Abnormal Left Atrial Strain.
NCT00001631	PHASE2	COMPLETED	Study of Blood Flow in Heart Muscle
NCT00001894	PHASE2	COMPLETED	A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy
NCT00001960	PHASE2	COMPLETED	Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle
NCT00011076	PHASE2	COMPLETED	Pirfenidone to Treat Hypertrophic Cardiomyopathy
NCT00035386	PHASE2	COMPLETED	Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Study
NCT00430833	PHASE2	UNKNOWN	CHANCE - Candesartan in Hypertrophic Cardiomyopathy
NCT00500552	PHASE2	COMPLETED	Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy
NCT01150461	PHASE2	COMPLETED	Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy
NCT01230918	PHASE2	TERMINATED	Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis
NCT01447654	PHASE2	COMPLETED	Inhibition of the Renin Angiotensin System With Losartan in Patients With Hypertrophic Cardiomyopathy
NCT01696370	PHASE2	UNKNOWN	Trimetazidine Therapy in Hypertrophic Cardiomyopathy
NCT01912534	PHASE2	COMPLETED	Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM
NCT02590809	PHASE2	COMPLETED	Hypertrophic Cardiomyopathy Symptom Release by BX1514M
NCT03496168	PHASE2	COMPLETED	Extension Study of Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Previously Enrolled in PIONEER
NCT03532802	PHASE2	COMPLETED	The Effect of Metoprolol in Patients With Hypertrophic Obstructive Cardiomyopathy.
NCT03832660	PHASE2	COMPLETED	Sacubitril/Valsartan vs Lifestyle in Hypertrophic Cardiomyopathy
NCT04219826	PHASE2	COMPLETED	Dose-finding Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of CK-3773274 in Adults With Hypertrophic Cardiomyopathy
NCT04426578	PHASE2	UNKNOWN	Role of Perhexiline in Hypertrophic Cardiomyopathy