TNNT2
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Also known as CMPD2
Summary
TNNT2 (troponin T2, cardiac type, HGNC:11949) is a protein-coding gene on chromosome 1q32.1, encoding Troponin T, cardiac muscle (P45379). Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. It is a selective cancer dependency (DepMap: 27.1% of cell lines).
This gene encodes the cardiac isoform of troponin T. The encoded protein is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy.
Source: NCBI Gene 7139 — RefSeq curated summary.
At a glance
- Gene–disease (curated): dilated cardiomyopathy 1D (Definitive, ClinGen) — +9 more curated relationships
- GWAS associations: 6
- Clinical variants (ClinVar): 1,152 total — 14 pathogenic, 32 likely-pathogenic
- Phenotypes (HPO): 57
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 27.1% of screened cell lines
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_001276345
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11949 |
| Approved symbol | TNNT2 |
| Name | troponin T2, cardiac type |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CMPD2 |
| Ensembl gene | ENSG00000118194 |
| Ensembl biotype | protein_coding |
| OMIM | 191045 |
| Entrez | 7139 |
Gene structure
Transcript identifiers
Ensembl transcripts: 41 — 25 protein_coding, 7 retained_intron, 5 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay
ENST00000367318, ENST00000367320, ENST00000367322, ENST00000412633, ENST00000422165, ENST00000438742, ENST00000445079, ENST00000455702, ENST00000460780, ENST00000466570, ENST00000472177, ENST00000475686, ENST00000476888, ENST00000477035, ENST00000491504, ENST00000494095, ENST00000503459, ENST00000509001, ENST00000515042, ENST00000651504, ENST00000656932, ENST00000658476, ENST00000660295, ENST00000662159, ENST00000663843, ENST00000666449, ENST00000714312, ENST00000714313, ENST00000714314, ENST00000714315, ENST00000714316, ENST00000714317, ENST00000961996, ENST00000961997, ENST00000961998, ENST00000961999, ENST00000962000, ENST00000962001, ENST00000962002, ENST00000962003, ENST00000962004
RefSeq mRNA: 13 — MANE Select: NM_001276345
NM_000364, NM_001001430, NM_001001431, NM_001001432, NM_001276345, NM_001276346, NM_001276347, NM_001406723, NM_001406724, NM_001406725, NM_001406726, NM_001406727, NM_001406728
CCDS: CCDS30968, CCDS30969, CCDS60390, CCDS73003
Canonical transcript exons
ENST00000656932 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001444197 | 201369816 | 201369845 |
| ENSE00001444204 | 201377623 | 201377680 |
| ENSE00003467518 | 201373214 | 201373268 |
| ENSE00003488921 | 201361279 | 201361369 |
| ENSE00003514510 | 201365610 | 201365670 |
| ENSE00003520322 | 201368162 | 201368227 |
| ENSE00003523427 | 201363296 | 201363406 |
| ENSE00003554410 | 201372027 | 201372041 |
| ENSE00003613333 | 201367771 | 201367806 |
| ENSE00003660777 | 201365191 | 201365307 |
| ENSE00003661906 | 201372145 | 201372155 |
| ENSE00003666033 | 201361913 | 201362022 |
| ENSE00003685555 | 201362386 | 201362394 |
| ENSE00003686160 | 201364298 | 201364375 |
| ENSE00003718704 | 201366838 | 201366871 |
| ENSE00003877901 | 201359623 | 201359663 |
| ENSE00004023534 | 201359014 | 201359255 |
Expression profiles
Bgee: expression breadth ubiquitous, 154 present calls, max score 99.96.
FANTOM5 (CAGE): breadth broad, TPM avg 57.5413 / max 13317.6984, expressed in 381 samples.
FANTOM5 promoters (15 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 16637 | 56.1636 | 370 |
| 16633 | 0.3618 | 47 |
| 16634 | 0.2962 | 48 |
| 16627 | 0.1113 | 32 |
| 16631 | 0.1093 | 27 |
| 16623 | 0.0905 | 25 |
| 16626 | 0.0801 | 30 |
| 16635 | 0.0571 | 15 |
| 16622 | 0.0506 | 15 |
| 16624 | 0.0505 | 21 |
Top tissues by expression
244 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 |
| right atrium auricular region | UBERON:0006631 | 99.95 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.09 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.38 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.28 | gold quality |
| sural nerve | UBERON:0015488 | 97.12 | gold quality |
| heart | UBERON:0000948 | 94.67 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.72 | gold quality |
| tibial nerve | UBERON:0001323 | 90.90 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 90.60 | gold quality |
| skin of leg | UBERON:0001511 | 90.01 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.70 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 89.70 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 88.33 | gold quality |
| right lung | UBERON:0002167 | 85.50 | gold quality |
| zone of skin | UBERON:0000014 | 84.65 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 84.40 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 83.56 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 82.65 | gold quality |
| gastrocnemius | UBERON:0001388 | 82.37 | gold quality |
| metanephros cortex | UBERON:0010533 | 82.21 | gold quality |
| prefrontal cortex | UBERON:0000451 | 81.64 | gold quality |
| right coronary artery | UBERON:0001625 | 80.81 | gold quality |
| upper lobe of lung | UBERON:0008948 | 80.76 | gold quality |
| muscle of leg | UBERON:0001383 | 80.64 | gold quality |
| esophagus mucosa | UBERON:0002469 | 79.93 | gold quality |
| neocortex | UBERON:0001950 | 78.90 | gold quality |
| frontal cortex | UBERON:0001870 | 78.55 | gold quality |
| left coronary artery | UBERON:0001626 | 77.26 | gold quality |
| coronary artery | UBERON:0001621 | 76.36 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 18.84 |
| E-MTAB-11268 | no | 4885.32 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ARRB2, GSK3B, HBP1, MEF2A, PARP1, SP1, SP3, TEAD1
miRNA regulators (miRDB)
12 targeting TNNT2, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-12132 | 99.47 | 68.90 | 1341 |
| HSA-MIR-3911 | 99.38 | 66.95 | 1087 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6893-5P | 99.31 | 66.25 | 2119 |
| HSA-MIR-10398-5P | 97.12 | 64.94 | 1051 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
DepMap (CRISPR cell-line fitness): dependent in 27.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 40)
- Frataxin and cardiac troponin T gene mutations co-exist in a child with Friedreich ataxia and familial hypertrophic cardiomyopathy. (PMID:11857753)
- functional slow skeletal muscle troponin T requires a full, non-truncated sequence including the COOH-terminal domain (PMID:12732643)
- It was concluded that myoglobin levels on admission and TnT at 2 h had the greatest diagnostic rate for myocardial infarction. (PMID:12760310)
- Data suggest that apoptosis signal-regulating kinase 1 plays an important role in regulation of cardiac contractile function by phosphorylating cardiac troponin T2. (PMID:12819028)
- effects of Troponin T (TnT) mutants R141W and DeltaK210 on the Ca2+ sensitivity of force development in cardiac fibers and maximal ATPase activity (PMID:12923187)
- different regions of TnT may contribute to the pathogenesis of TnT-linked Familial hypertrophic cardiomyopathy through different mechanisms (PMID:14722098)
- TNNT2 deletion allele could be associated with a predisposition to prominent left ventricular hypertrophy (PMID:14986170)
- Quantitative test is useful for early diagnosis of acute myocardial infarct and as an indicator of its severity. (PMID:15226628)
- slow skeletal TnT mRNA is readily detectable during early human heart development (PMID:15524170)
- Role of TnT in muscle physiology and disease. Review. (PMID:15524172)
- Evidence is shown that the Delta14 mutation of troponin T, as seen in some cases of familial hypertrophic cardiomyopathy, results in stabilization of regulated actin in a more active state. (PMID:15568820)
- NT-proBNP, cTnT, or cTnI do not have roles in acute ischemic stroke when other risk factors are considered (PMID:15604421)
- Measurement of the serum levels of cTnT is of clinical importance in evaluating myocardial injury (PMID:15673967)
- No differences in troponin T or inotropic support levels found in relation to modality of organ donors’ brain death. (PMID:15759546)
- Cardiac troponin T may have a role in progression of atherosclerosis (PMID:15950076)
- Troponin T mutations that cause familial hypertrophic cardiomyopathy affect muscle contraction in transgenic mice and reconstituted human cardiac fibers (PMID:16115869)
- Increases after exercise in athletes (PMID:16338248)
- infantile case of restrictive cardiomyopathy caused by a de novo mutation of the cardiac troponin T gene. (PMID:16651346)
- Elevated cardiac troponin T may be an early marker of overall disease severity and a predictor of outcome. (PMID:16716613)
- at-birth reference values previously established for cTnT and amino-terminal pro-natriuretic peptide (PMID:16776629)
- In transgenic rats expressing a TnT truncation as models of human familial hypertrophic cardiomyopathy, the force-generating capacity of cycling cross-bridges is impaired, resulting in increased tension-dependent ATP utilization. (PMID:16882671)
- spectrum of mutations in cardiac hypertrophy patients (PMID:17101185)
- serum troponin T concentrations were not elevated in healthy professional football players with left ventricular hypertrophy (LVH); this argues against the hypothesis that LVH per se may cause increased cTnT (PMID:17289431)
- Intact cTnT rapidly disappears from the circulation during the early hours after acute myocardial infarction, but immunoreactive fragments remain present longer. (PMID:17512511)
- a positive correlation between age and interventricular septal thickness for South African R92W(TNNT2) families (PMID:17612745)
- validated occurrence of an unusual TG 3’ splice site in intron 1 (PMID:17672918)
- Troponin T has a role in rat myocardial infarction induced by isoproterenol (PMID:17848144)
- A single NT-pro BNP and cTnT value at 96 hours after onset of symptoms proved useful for estimation of left ventricular ejection fraction and infarct size. (PMID:17891611)
- Troponin T mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. (PMID:18029407)
- chronic obstructive pulmonary disease patients with elevated cardiac-specific Troponin T during exacerbation are at increased risk of death after discharge. (PMID:18032444)
- N-terminal pro-B-type natriuretic peptide (NT-pro-BNP) level strongly correlates with left ventricular systolic dysfunction and is associated more strongly with mortality than cTnT level in asymptomatic hemodialysis patients. (PMID:18037101)
- Review hypothesizes that increased serum cardiac troponin T concentrations during chronic compensated heart failure identify patients likely to need multiple admissions to the hospital for management of acute cardiac decompensation. (PMID:18063145)
- Elevated Troponin T level is a strong independent predictor of all cause mortality in patients with a renal transplant. (PMID:18065785)
- Troponin T elevations occurred in all patients undergoing pulmonary vein isolation, to levels at least 20 times the normal concentration, into the range for diagnosis of acute myocardial infarction. (PMID:18174208)
- There was a significant inverse correlation between cTnT (cardiac troponin T) and echocardiographic markers of myocardial function and stroke volume in preterm infants (PMID:18322550)
- troponin T is a more specific marker than H-FABP (heart-type fatty acid binding protein) of acute Myocardial Infarct in patients presenting with chest pain (PMID:18460953)
- 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)
- Baseline elevation of cTn is relatively common among patients with stable coronary artery disease undergoing percutaneous intervention and is an independent prognostic indicator of ischemic complications (PMID:18645057)
- Sequencing of TNNT2 identified a heterozygous missense mutation resulting in an I79N substitution in familial cardiomyopathy with variable remodeling and restrictive physiology. (PMID:18651846)
- cTnT may be an aid in risk stratification of continuous ambulatory peritoneal dialysis patients for cardiovascular disease (PMID:18719346)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tnnt2a | ENSDARG00000020610 |
| danio_rerio | tnnt2b | ENSDARG00000100694 |
| mus_musculus | Tnnt2 | ENSMUSG00000026414 |
| rattus_norvegicus | Tnnt2 | ENSRNOG00000033734 |
| drosophila_melanogaster | up | FBGN0004169 |
| caenorhabditis_elegans | WBGENE00006588 |
Paralogs (2): TNNT1 (ENSG00000105048), TNNT3 (ENSG00000130595)
Protein
Protein identifiers
Troponin T, cardiac muscle — P45379 (reviewed: P45379)
Alternative names: Cardiac muscle troponin T
All UniProt accessions (12): A0A499FJM7, A0A590UJV2, A0A590UK21, A0A590UK91, A0A590UKC2, A0AAQ5BHV8, A0AAQ5BHV9, A0AAQ5BHW1, A0AAQ5BHX3, P45379, E7EPN8, E7EPW4
UniProt curated annotations — full annotation on UniProt →
Function. Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Tissue specificity. Heart. The fetal heart shows a greater expression in the atrium than in the ventricle, while the adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal adult heart. Isoforms 1, 7 and 8 are expressed in fetal heart. Isoform 7 is also expressed in failing adult heart.
Post-translational modifications. Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and actomyosin ATPase activity.
Disease relevance. Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] 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, dilated, 1D (CMD1D) [MIM:601494] 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 restrictive 3 (RCM3) [MIM:612422] 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.
Similarity. Belongs to the troponin T family.
Isoforms (12)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P45379-1 | 1, TNT1 | yes |
| P45379-2 | 2 | |
| P45379-3 | 3 | |
| P45379-4 | 4 | |
| P45379-5 | 5 | |
| P45379-6 | 6, TNT3 | |
| P45379-7 | 7, TNT4 | |
| P45379-8 | 8, TNT2 | |
| P45379-9 | 9 | |
| P45379-10 | 10 | |
| P45379-11 | 11 | |
| P45379-12 | 12 |
RefSeq proteins (13): NP_000355, NP_001001430, NP_001001431, NP_001001432, NP_001263274, NP_001263275, NP_001263276, NP_001393652, NP_001393653, NP_001393654, NP_001393655, NP_001393656, NP_001393657 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001978 | Troponin | Family |
| IPR027707 | TNNT | Family |
| IPR038077 | Troponin_sf | Homologous_superfamily |
Pfam: PF00992
UniProt features (55 total): sequence variant 31, splice variant 8, modified residue 6, compositionally biased region 3, region of interest 2, helix 2, initiator methionine 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
25 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4Y99 | X-RAY DIFFRACTION | 2 |
| 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 |
| 9MOW | ELECTRON MICROSCOPY | 4.9 |
| 9MOP | ELECTRON MICROSCOPY | 5 |
| 9MOO | ELECTRON MICROSCOPY | 5.2 |
| 9MOX | ELECTRON MICROSCOPY | 5.2 |
| 9MOA | ELECTRON MICROSCOPY | 5.4 |
| 9MOB | ELECTRON MICROSCOPY | 5.5 |
| 9MO9 | ELECTRON MICROSCOPY | 5.6 |
| 9MOC | ELECTRON MICROSCOPY | 5.6 |
| 9MOU | ELECTRON MICROSCOPY | 5.6 |
| 9MOD | ELECTRON MICROSCOPY | 5.7 |
| 6KN7 | ELECTRON MICROSCOPY | 6.6 |
| 7UTL | ELECTRON MICROSCOPY | 6.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P45379-F1 | 78.93 | 0.44 |
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 (6): 208, 213, 294, 2, 2, 204
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-390522 | Striated Muscle Contraction |
MSigDB gene sets: 323 (showing top):
GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, GOBP_NEGATIVE_REGULATION_OF_ATP_DEPENDENT_ACTIVITY, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, AP4_Q6, MEF2_02, GOBP_SARCOMERE_ORGANIZATION, CAGCTG_AP4_Q5, GNF2_MYL3, GOBP_RESPONSE_TO_METAL_ION, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_ANIMAL_ORGAN_MORPHOGENESIS
GO Biological Process (10): regulation of muscle contraction (GO:0006937), regulation of heart contraction (GO:0008016), muscle filament sliding (GO:0030049), negative regulation of ATP-dependent activity (GO:0032780), positive regulation of ATP-dependent activity (GO:0032781), sarcomere organization (GO:0045214), response to calcium ion (GO:0051592), ventricular cardiac muscle tissue morphogenesis (GO:0055010), cardiac muscle contraction (GO:0060048), striated muscle contraction (GO:0006941)
GO Molecular Function (7): actin binding (GO:0003779), tropomyosin binding (GO:0005523), troponin C binding (GO:0030172), troponin I binding (GO:0031013), identical protein binding (GO:0042802), microfilament motor activity (GO:0000146), protein binding (GO:0005515)
GO Cellular Component (6): cytosol (GO:0005829), troponin complex (GO:0005861), striated muscle thin filament (GO:0005865), sarcomere (GO:0030017), cardiac myofibril (GO:0097512), cardiac Troponin complex (GO:1990584)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Muscle contraction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoskeletal protein binding | 4 |
| muscle contraction | 3 |
| ATP-dependent activity | 3 |
| heart contraction | 2 |
| regulation of ATP-dependent activity | 2 |
| cellular anatomical structure | 2 |
| myofibril | 2 |
| regulation of muscle system process | 1 |
| regulation of blood circulation | 1 |
| actin-myosin filament sliding | 1 |
| negative regulation of molecular function | 1 |
| positive regulation of molecular function | 1 |
| myofibril assembly | 1 |
| actomyosin structure organization | 1 |
| response to metal ion | 1 |
| cardiac ventricle morphogenesis | 1 |
| ventricular cardiac muscle tissue development | 1 |
| cardiac muscle tissue morphogenesis | 1 |
| striated muscle contraction | 1 |
| protein binding | 1 |
| cytoskeletal motor activity | 1 |
| polypeptide conformation or assembly isomerase activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| striated muscle thin filament | 1 |
| protein-containing complex | 1 |
| actin cytoskeleton | 1 |
| sarcomere | 1 |
| myofilament | 1 |
| troponin complex | 1 |
Protein interactions and networks
STRING
1919 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TNNT2 | TNNI3 | P19429 | 999 |
| TNNT2 | MYBPC3 | Q14896 | 972 |
| TNNT2 | TPM1 | P09493 | 969 |
| TNNT2 | MYH7 | P12883 | 957 |
| TNNT2 | ACTC1 | P04270 | 943 |
| TNNT2 | TNNC1 | P02590 | 916 |
| TNNT2 | TNNI1 | P19237 | 909 |
| TNNT2 | NKX2-5 | P52952 | 903 |
| TNNT2 | MYH6 | P13533 | 900 |
| TNNT2 | MYL3 | P08590 | 886 |
| TNNT2 | MYL2 | P10916 | 877 |
| TNNT2 | ACTN2 | P35609 | 866 |
| TNNT2 | LDB3 | O75112 | 857 |
| TNNT2 | TNNI2 | P48788 | 856 |
| TNNT2 | CELF2 | O95319 | 849 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TNNC1 | TNNI3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TNNT2 | MORF4L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNNT2 | KDM1A | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (18): MORF4L2 (Two-hybrid), TNNT2 (Reconstituted Complex), TNNT2 (Biochemical Activity), TNNT2 (Reconstituted Complex), TNNT2 (Two-hybrid), TNNT2 (Two-hybrid), TNNT2 (Two-hybrid), TNNT2 (Two-hybrid), TNNT2 (Two-hybrid), TNNI1 (Two-hybrid), MORF4L1 (Two-hybrid), TRIM69 (Two-hybrid), TNNT2 (Reconstituted Complex), TNNT2 (Reconstituted Complex), TNNT2 (Two-hybrid)
ESM2 similar proteins: A4IFB1, A5D7A0, O88346, P02641, P02642, P02646, P06398, P08057, P09739, P09741, P12620, P13789, P13805, P19351, P19429, P23693, P45378, P45379, P48787, P50751, P50752, P50753, P50754, P68246, P68247, P92948, Q13435, Q27371, Q28HN4, Q2KIT1, Q2TBV6, Q39604, Q3UJB0, Q4FZY0, Q5PYI0, Q6DD17, Q75NG9, Q75ZZ6, Q7TNB2, Q863B6
Diamond homologs: O88346, P02641, P02642, P06398, P09739, P09741, P12620, P13789, P13805, P19351, P45378, P45379, P50751, P50752, P50753, Q75NG9, Q75ZZ6, Q7TNB2, Q8MKH6, Q8MKI3, Q9QZ47, Q9XZ71, Q27371
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| “MYOD1/SWI/SNF complex” | “up-regulates quantity by expression” | TNNT2 | “transcriptional regulation” |
| CELF4 | “up-regulates quantity” | TNNT2 | “post transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1152 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 14 |
| Likely pathogenic | 32 |
| Uncertain significance | 514 |
| Likely benign | 360 |
| Benign | 63 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 12408 | NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) | Pathogenic |
| 12412 | NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) | Pathogenic |
| 12416 | NM_001276345.2(TNNT2):c.644G>T (p.Arg215Leu) | Pathogenic |
| 181639 | NM_001276345.2(TNNT2):c.844dup (p.Gln282fs) | Pathogenic |
| 181641 | NM_001276345.2(TNNT2):c.269C>T (p.Pro90Leu) | Pathogenic |
| 2100789 | NM_001276345.2(TNNT2):c.321G>C (p.Lys107Asn) | Pathogenic |
| 228409 | NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) | Pathogenic |
| 235063 | NM_001276345.2(TNNT2):c.305G>T (p.Arg102Leu) | Pathogenic |
| 2500774 | NM_001276345.2(TNNT2):c.310C>A (p.Arg104Ser) | Pathogenic |
| 3753583 | NM_001276345.2(TNNT2):c.291T>G (p.Phe97Leu) | Pathogenic |
| 431937 | NM_001276345.2(TNNT2):c.847A>G (p.Lys283Glu) | Pathogenic |
| 43637 | NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) | Pathogenic |
| 684850 | NM_001276345.2(TNNT2):c.328_333del (p.Asn110_Glu111del) | Pathogenic |
| 691967 | NM_001276345.2(TNNT2):c.548G>T (p.Arg183Leu) | Pathogenic |
| 1319259 | NM_001276345.2(TNNT2):c.499G>C (p.Ala167Pro) | Likely pathogenic |
| 1435754 | NM_001276345.2(TNNT2):c.283G>A (p.Val95Met) | Likely pathogenic |
| 1699339 | NM_001276345.2(TNNT2):c.299T>A (p.Ile100Asn) | Likely pathogenic |
| 1701922 | NM_001276345.2(TNNT2):c.68-2A>G | Likely pathogenic |
| 177636 | NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) | Likely pathogenic |
| 177855 | NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys) | Likely pathogenic |
| 181622 | NM_001276345.2(TNNT2):c.526A>G (p.Arg176Gly) | Likely pathogenic |
| 2115456 | NM_001276345.2(TNNT2):c.445C>G (p.Arg149Gly) | Likely pathogenic |
| 217496 | NM_001276345.2(TNNT2):c.662T>C (p.Ile221Thr) | Likely pathogenic |
| 2202921 | NM_001276345.2(TNNT2):c.290T>A (p.Phe97Tyr) | Likely pathogenic |
| 235064 | NM_001276345.2(TNNT2):c.358T>C (p.Phe120Leu) | Likely pathogenic |
| 2444397 | NM_001276345.2(TNNT2):c.609+2T>A | Likely pathogenic |
| 2505116 | NM_001276345.2(TNNT2):c.652A>G (p.Lys218Glu) | Likely pathogenic |
| 2505127 | NM_001276345.2(TNNT2):c.630G>C (p.Lys210Asn) | Likely pathogenic |
| 2942386 | NM_001276345.2(TNNT2):c.304C>G (p.Arg102Gly) | Likely pathogenic |
| 3337677 | NM_001276345.2(TNNT2):c.452G>T (p.Arg151Leu) | Likely pathogenic |
SpliceAI
2734 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:201359621:A:AC | donor_gain | 1.0000 |
| 1:201359622:C:CC | donor_gain | 1.0000 |
| 1:201359622:CA:C | donor_gain | 1.0000 |
| 1:201361365:TCTCC:T | acceptor_gain | 1.0000 |
| 1:201361366:CTCC:C | acceptor_gain | 1.0000 |
| 1:201361366:CTCCC:C | acceptor_gain | 1.0000 |
| 1:201361367:TCC:T | acceptor_gain | 1.0000 |
| 1:201361367:TCCCT:T | acceptor_gain | 1.0000 |
| 1:201361368:CC:C | acceptor_gain | 1.0000 |
| 1:201361368:CCC:C | acceptor_gain | 1.0000 |
| 1:201361369:CC:C | acceptor_gain | 1.0000 |
| 1:201361369:CCT:C | acceptor_loss | 1.0000 |
| 1:201361370:C:CC | acceptor_gain | 1.0000 |
| 1:201361373:C:CT | acceptor_gain | 1.0000 |
| 1:201361379:C:CT | acceptor_gain | 1.0000 |
| 1:201361380:A:T | acceptor_gain | 1.0000 |
| 1:201361917:G:C | donor_gain | 1.0000 |
| 1:201361922:T:C | donor_gain | 1.0000 |
| 1:201361953:T:A | donor_gain | 1.0000 |
| 1:201362019:CTGT:C | acceptor_gain | 1.0000 |
| 1:201362020:TGT:T | acceptor_gain | 1.0000 |
| 1:201362023:C:CC | acceptor_gain | 1.0000 |
| 1:201362030:G:C | acceptor_gain | 1.0000 |
| 1:201362030:G:GC | acceptor_gain | 1.0000 |
| 1:201362032:G:C | acceptor_gain | 1.0000 |
| 1:201363403:CTTC:C | acceptor_gain | 1.0000 |
| 1:201363404:TTCC:T | acceptor_loss | 1.0000 |
| 1:201363405:TC:T | acceptor_gain | 1.0000 |
| 1:201363405:TCCTG:T | acceptor_loss | 1.0000 |
| 1:201363406:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
2004 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:201359643:C:A | R277S | 0.999 |
| 1:201359643:C:G | R277S | 0.999 |
| 1:201359650:C:G | R275P | 0.999 |
| 1:201359653:A:G | L274P | 0.999 |
| 1:201361310:A:G | L260P | 0.999 |
| 1:201361315:G:C | F258L | 0.999 |
| 1:201361315:G:T | F258L | 0.999 |
| 1:201361317:A:G | F258L | 0.999 |
| 1:201361362:C:G | A243P | 0.999 |
| 1:201365242:A:C | F120L | 0.999 |
| 1:201365242:A:T | F120L | 0.999 |
| 1:201365244:A:G | F120L | 0.999 |
| 1:201365267:A:G | L112S | 0.999 |
| 1:201359644:C:A | R277M | 0.998 |
| 1:201359645:T:C | R277G | 0.998 |
| 1:201361289:T:G | Q267P | 0.998 |
| 1:201361326:C:G | A255P | 0.998 |
| 1:201361352:A:G | L246P | 0.998 |
| 1:201361916:A:G | L239P | 0.998 |
| 1:201361957:C:A | R225S | 0.998 |
| 1:201361957:C:G | R225S | 0.998 |
| 1:201361978:C:A | K218N | 0.998 |
| 1:201361978:C:G | K218N | 0.998 |
| 1:201361988:C:G | R215P | 0.998 |
| 1:201363344:C:A | K184N | 0.998 |
| 1:201363344:C:G | K184N | 0.998 |
| 1:201365233:C:A | R123S | 0.998 |
| 1:201365233:C:G | R123S | 0.998 |
| 1:201365247:G:C | H119D | 0.998 |
| 1:201365258:A:G | L115P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000032303 (1:201378389 G>A,T), RS1000291382 (1:201375394 G>A), RS1000341399 (1:201376506 T>TGGGGAGAGGGC), RS1000348301 (1:201376894 A>C,G), RS1000817161 (1:201365165 G>A), RS1000881331 (1:201366137 G>A), RS1000921827 (1:201365419 C>A,T), RS1000975795 (1:201360385 A>G,T), RS1001073027 (1:201377040 G>A), RS1001142745 (1:201371022 C>T), RS1001308898 (1:201371203 G>T), RS1001450913 (1:201376485 A>T), RS1001814242 (1:201368747 T>TAGAA), RS1001962475 (1:201374154 A>G), RS1002280667 (1:201365044 A>G)
Disease associations
OMIM: gene MIM:191045 | disease phenotypes: MIM:115195, MIM:601494, MIM:612422, MIM:192600, MIM:218040, MIM:613172, MIM:115200, MIM:604169, MIM:115197, MIM:613426, MIM:242300, MIM:194200, MIM:613690
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| hypertrophic cardiomyopathy 2 | Definitive | Autosomal dominant |
| dilated cardiomyopathy 1D | Definitive | Autosomal dominant |
| hypertrophic cardiomyopathy 3 | Definitive | Autosomal dominant |
| cardiomyopathy, familial restrictive, 3 | Strong | Autosomal dominant |
| familial isolated dilated cardiomyopathy | Supportive | Autosomal dominant |
| left ventricular noncompaction | Supportive | Autosomal dominant |
| familial isolated restrictive cardiomyopathy | Supportive | Autosomal dominant |
| cardiomyopathy | Limited | Autosomal recessive |
| arrhythmogenic right ventricular cardiomyopathy | No Known Disease Relationship | Autosomal dominant |
ClinGen Gene-Disease Validity (3)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| dilated cardiomyopathy 1D | Definitive | AD |
| arrhythmogenic right ventricular cardiomyopathy | No Known Disease Relationship | AD |
| hypertrophic cardiomyopathy | Moderate | AD |
Mondo (24): cardiomyopathy (MONDO:0004994), hypertrophic cardiomyopathy 2 (MONDO:0007266), dilated cardiomyopathy 1D (MONDO:0011095), cardiomyopathy, familial restrictive, 3 (MONDO:0012900), hypertrophic cardiomyopathy (MONDO:0005045), hypertrophic cardiomyopathy 1 (MONDO:0008647), Costello syndrome (MONDO:0009026), dilated cardiomyopathy (MONDO:0005021), familial isolated dilated cardiomyopathy (MONDO:0700335), dilated cardiomyopathy 1DD (MONDO:0013168), myocarditis (MONDO:0004496), familial hypertrophic cardiomyopathy (MONDO:0024573), restrictive cardiomyopathy (MONDO:0005201), familial dilated cardiomyopathy (MONDO:0016333), left ventricular noncompaction (MONDO:0018901)
Orphanet (12): Familial isolated dilated cardiomyopathy (Orphanet:154), Rare cardiomyopathy (Orphanet:167848), Left ventricular noncompaction (Orphanet:54260), Familial isolated restrictive cardiomyopathy (Orphanet:75249), Rare hypertrophic cardiomyopathy (Orphanet:217569), Costello syndrome (Orphanet:3071), Dilated cardiomyopathy (Orphanet:217604), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Restrictive cardiomyopathy (Orphanet:217632), Familial dilated cardiomyopathy (Orphanet:217607), NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy (Orphanet:155), NON RARE IN EUROPE: Wolff-Parkinson-White syndrome (Orphanet:907)
HPO phenotypes
57 total (30 of 57 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant 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:0001657 | Prolonged QT interval |
| HP:0001681 | Angina pectoris |
| HP:0001688 | Sinus bradycardia |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0001723 | Restrictive cardiomyopathy |
| HP:0001727 | Thromboembolic stroke |
| HP:0001907 | Thromboembolism |
| HP:0002094 | Dyspnea |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002240 | Hepatomegaly |
| HP:0002615 | Hypotension |
| HP:0002875 | Exertional dyspnea |
| HP:0003198 | Myopathy |
| HP:0003457 | EMG abnormality |
| HP:0003593 | Infantile onset |
| HP:0003596 | Middle age onset |
| HP:0003621 | Juvenile onset |
| HP:0004942 | Aortic aneurysm |
| HP:0005110 | Atrial fibrillation |
| HP:0005115 | Supraventricular arrhythmia |
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001776_10 | Cardiac Troponin-T levels | 5.000000e-08 |
| GCST002594_18 | Neurofibrillary tangles | 9.000000e-06 |
| GCST008163_18 | Height | 4.000000e-06 |
| GCST010796_4828 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_4829 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST010796_4830 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005043 | cardiac troponin T measurement |
| EFO:0006797 | neurofibrillary tangles measurement |
| EFO:0004327 | electrocardiography |
MeSH disease descriptors (18)
| 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 |
| D056685 | Costello Syndrome | C05.660.207.219; C16.131.077.256; C16.320.188 |
| D017490 | Ichthyosis, Lamellar | C16.131.831.512.400.410; C16.320.850.400.410; C16.614.492.400.410; C17.800.428.333.250.410; C17.800.804.512.400.410; C17.800.827.400.410 |
| D009205 | Myocarditis | C14.280.238.625 |
| D014927 | Wolff-Parkinson-White Syndrome | C14.280.067.780.977; C14.280.123.750.977; C16.131.240.400.980 |
| C563306 | Cardiomyopathy, Dilated, 1D (supp.) | |
| C567725 | Cardiomyopathy, Dilated, 1DD (supp.) | |
| C563538 | Cardiomyopathy, Dilated, 1s (supp.) | |
| C566171 | Cardiomyopathy, Familial Hypertrophic, 2 (supp.) | |
| C566170 | Cardiomyopathy, Familial Hypertrophic, 3 (supp.) | |
| C566169 | Cardiomyopathy, Familial Hypertrophic, 4 (supp.) | |
| C567316 | Cardiomyopathy, Familial Restrictive, 3 (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
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 2 |
| Doxorubicin | affects expression | 2 |
| Folic Acid | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tretinoin | affects expression, decreases expression | 2 |
| Valproic Acid | decreases expression, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| captax | decreases expression | 1 |
| terbufos | increases methylation | 1 |
| cinnamaldehyde | decreases expression | 1 |
| 1,6-hexamethylene diisocyanate | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| ammonium hexachloroplatinate | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| 7-aminocephalosporanic acid | decreases expression | 1 |
| 4-aminophenylarsenoxide | decreases reaction, affects binding | 1 |
| chloropicrin | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| bisphenol AF | decreases expression | 1 |
| Resveratrol | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Acrolein | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 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
8 cell lines: 7 induced pluripotent stem cell, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A6IY | ZZUNEUi021-A | Induced pluripotent stem cell | Male |
| CVCL_B0W6 | SYSUi005-A | Induced pluripotent stem cell | Male |
| CVCL_C1TI | YCMi007-A | Induced pluripotent stem cell | Male |
| CVCL_D6NW | ICSSUi006-A | Induced pluripotent stem cell | Male |
| CVCL_E0RR | Ubigene HeLa TNNT2 KO | Cancer cell line | Female |
| CVCL_RM74 | UKKi031-A | Induced pluripotent stem cell | Female |
| CVCL_RM75 | UKKi031-B | Induced pluripotent stem cell | Female |
| CVCL_RM76 | UKKi031-C | Induced pluripotent stem cell | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| 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 |
| NCT00170183 | PHASE3 | COMPLETED | Brain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure |
| NCT00270387 | PHASE3 | COMPLETED | A Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy |
| NCT00321295 | PHASE3 | COMPLETED | Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery |
| NCT00483197 | PHASE3 | UNKNOWN | VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Pivotal Trial |
| NCT00490321 | PHASE3 | UNKNOWN | VentrAssistTM LVAD for the Treatment of Advanced Heart Failure - Destination Therapy |
| NCT00626028 | PHASE3 | COMPLETED | Comparison of Inhaled Nitric Oxide and Oxygen in Participants Reactivity During Acute Pulmonary Vasodilator Testing |
| NCT01013714 | PHASE3 | UNKNOWN | Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias |
| NCT01217827 | PHASE3 | COMPLETED | Implantable Cardioverter-Defibrillator Use in the VA System |
| NCT01648634 | PHASE3 | COMPLETED | Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy |
| NCT02924285 | PHASE3 | COMPLETED | Catheter Ablation Versus Amiodarone for Therapy of Premature Ventricular Contractions in Patients With Structural Heart Disease |
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Related Atlas pages
- Associated diseases: cardiomyopathy, hypertrophic cardiomyopathy 2, dilated cardiomyopathy 1D, arrhythmogenic right ventricular cardiomyopathy, cardiomyopathy, familial restrictive, 3, familial isolated dilated cardiomyopathy, left ventricular noncompaction, hypertrophic cardiomyopathy 3, hypertrophic cardiomyopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): arrhythmogenic right ventricular cardiomyopathy, autosomal recessive congenital ichthyosis 1, cardiomyopathy, cardiomyopathy, familial restrictive, 3, Costello syndrome, dilated cardiomyopathy, dilated cardiomyopathy 1D, dilated cardiomyopathy 1DD, dilated cardiomyopathy 1S, familial dilated cardiomyopathy, familial hypertrophic cardiomyopathy, familial isolated dilated cardiomyopathy, hypertrophic cardiomyopathy, hypertrophic cardiomyopathy 1, hypertrophic cardiomyopathy 2, hypertrophic cardiomyopathy 3, hypertrophic cardiomyopathy 4, hypertrophic cardiomyopathy 7, left ventricular noncompaction, myocarditis, restrictive cardiomyopathy, Wolff-Parkinson-White syndrome