MYBPC3
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Also known as FHCcMyBP-C
Summary
MYBPC3 (myosin binding protein C3, HGNC:7551) is a protein-coding gene on chromosome 11p11.2, encoding Myosin-binding protein C, cardiac-type (Q14896). Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. It is haploinsufficient (ClinGen: sufficient evidence).
MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy.
Source: NCBI Gene 4607 — RefSeq curated summary.
At a glance
- Gene–disease (curated): hypertrophic cardiomyopathy (Definitive, ClinGen) — +7 more curated relationships
- GWAS associations: 64
- Clinical variants (ClinVar): 4,702 total — 678 pathogenic, 234 likely-pathogenic
- Phenotypes (HPO): 48
- Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_000256
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7551 |
| Approved symbol | MYBPC3 |
| Name | myosin binding protein C3 |
| Location | 11p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FHC, cMyBP-C |
| Ensembl gene | ENSG00000134571 |
| Ensembl biotype | protein_coding |
| OMIM | 600958 |
| Entrez | 4607 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay
ENST00000399249, ENST00000544791, ENST00000545968
RefSeq mRNA: 1 — MANE Select: NM_000256
NM_000256
CCDS: CCDS53621
Canonical transcript exons
ENST00000545968 — 35 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000921269 | 47331845 | 47331881 |
| ENSE00000921270 | 47332072 | 47332258 |
| ENSE00000921271 | 47332566 | 47332702 |
| ENSE00000921272 | 47332814 | 47332973 |
| ENSE00000921273 | 47333194 | 47333333 |
| ENSE00000921274 | 47333557 | 47333752 |
| ENSE00000921275 | 47333922 | 47334010 |
| ENSE00000921276 | 47335042 | 47335209 |
| ENSE00001098039 | 47347426 | 47347479 |
| ENSE00001098040 | 47343021 | 47343145 |
| ENSE00001098044 | 47347857 | 47347905 |
| ENSE00001098047 | 47338520 | 47338679 |
| ENSE00001098049 | 47343492 | 47343624 |
| ENSE00001098052 | 47342830 | 47342935 |
| ENSE00001098053 | 47351239 | 47351505 |
| ENSE00001098054 | 47346207 | 47346370 |
| ENSE00001098055 | 47347651 | 47347680 |
| ENSE00001098057 | 47350014 | 47350112 |
| ENSE00001098058 | 47341003 | 47341032 |
| ENSE00001098059 | 47342578 | 47342744 |
| ENSE00001098062 | 47341991 | 47342156 |
| ENSE00001129990 | 47331406 | 47331716 |
| ENSE00001130046 | 47337391 | 47337579 |
| ENSE00001130054 | 47337690 | 47337794 |
| ENSE00001130066 | 47339324 | 47339404 |
| ENSE00001130073 | 47339651 | 47339790 |
| ENSE00001130082 | 47341138 | 47341244 |
| ENSE00001130136 | 47348424 | 47348541 |
| ENSE00001130142 | 47349774 | 47349922 |
| ENSE00001130147 | 47350502 | 47350615 |
| ENSE00001304474 | 47352623 | 47352702 |
| ENSE00001799700 | 47343260 | 47343262 |
| ENSE00002266002 | 47346627 | 47346644 |
| ENSE00002288859 | 47347027 | 47347029 |
| ENSE00003694001 | 47335877 | 47336011 |
Expression profiles
Bgee: expression breadth ubiquitous, 149 present calls, max score 99.90.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.9568 / max 1299.2100, expressed in 42 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119567 | 3.9276 | 42 |
| 206275 | 0.0293 | 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 | 99.90 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.65 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.63 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.45 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.34 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.34 | gold quality |
| heart right ventricle | UBERON:0002080 | 99.29 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 99.25 | gold quality |
| myocardium | UBERON:0002349 | 99.04 | gold quality |
| vena cava | UBERON:0004087 | 96.51 | gold quality |
| heart | UBERON:0000948 | 94.51 | gold quality |
| triceps brachii | UBERON:0001509 | 84.35 | gold quality |
| gluteal muscle | UBERON:0002000 | 83.88 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 81.11 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.21 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 80.08 | gold quality |
| biceps brachii | UBERON:0001507 | 79.74 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 77.98 | gold quality |
| vastus lateralis | UBERON:0001379 | 77.49 | gold quality |
| sperm | CL:0000019 | 76.92 | gold quality |
| male germ cell | CL:0000015 | 76.90 | gold quality |
| gingival epithelium | UBERON:0001949 | 76.75 | gold quality |
| quadriceps femoris | UBERON:0001377 | 76.65 | gold quality |
| parotid gland | UBERON:0001831 | 76.40 | gold quality |
| gingiva | UBERON:0001828 | 76.38 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 76.32 | gold quality |
| blood | UBERON:0000178 | 75.95 | gold quality |
| endometrium epithelium | UBERON:0004811 | 75.93 | gold quality |
| body of tongue | UBERON:0011876 | 75.74 | gold quality |
| pericardium | UBERON:0002407 | 75.50 | silver quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 3693.89 |
| E-ANND-3 | yes | 3.70 |
| E-MTAB-11268 | no | 8407.69 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
6 targeting MYBPC3, 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-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-2355-5P | 98.83 | 65.51 | 1589 |
| HSA-MIR-6793-3P | 97.66 | 65.78 | 1084 |
| HSA-MIR-4800-5P | 97.22 | 65.91 | 324 |
Functional genomics
ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- Left ventricular hypertrophy can be a late manifestation of hypertrophic cardiomyopathy due to cardiac myosin-binding protein C mutations. (PMID:11955864)
- Results suggest that the cardiac myosin-binding protein C gene (MYBPC3) is the predominant gene for hypertrophic cardiomyopathy in eastern Finland. (PMID:12110947)
- Haplotype analysis suggested that the two most common variants (MYBPC3-Gln1061X and TPM1-Asp175Asn) were founder mutations. (PMID:15000344)
- NMR assignment of domain C1 of the N-terminal myosin-binding site of human cardiac myosin binding protein C (PMID:15213454)
- MYBPC3-HCM virtually mimicked the phenotype of those with mutations in the beta-myosin heavy chain. Patients with multiple mutations had the most severe phenotype. (PMID:15519027)
- Our results point out that GG genotype of MYBPC3 might be a genetic risk factor for the expression of cardiac hypertrophic phenotype in the patients with hypertrophic cardiomyopathy. (PMID:15737656)
- Truncated cMyBP-C resulting from human MYBPC3 mutations are rapidly and quantitatively degraded by the ubiquitin-proteasome system, which in turn may competitively inhibit breakdown of other proteasome substrates. (PMID:15769446)
- role of MYBPC3 mutations in hypertrophic cardiomyopathy; three new mutations in three families (V771M, V342D, and A627V)were found; findings suggest a dosage effect for mutations at the MYPBC3 gene (PMID:16004897)
- mutation in the TNNT2 gene with aggravating mutation in the MYBPC3 gene causing restrictive cardiomyopathy in a child (PMID:16651346)
- lution structure of one part of the N-terminal binding site, the third immunoglobulin domain of the cardiac isoform of human MyBP-C (cC2) together with a model of its interaction with myosin (PMID:17192269)
- The compromised contractile function of the failing heart might be in part attributable to reduced cMyBP-C phosphorylation levels. (PMID:17560599)
- identified a novel homozygous mutation, c.3330 + 2T > G, in the splice-donor site of MYBPC3 intron 30, resulting in skipping of the 140-bp exon 30, which led to a frame shift and premature stop codon in exon 31; phenotype found in Amish communities (PMID:17937428)
- Screening of the exons in hypertrophic cardiomyopathy revealed two variations - one novel frame shift mutation in exon 19 at the nucleotide position 11577-11578 and one novel single nucleotide polymorphism (SNP) in codon 1093 of exon 31. (PMID:18273486)
- Four mutations in the MYBPC3 gene are found to be associated with hypertrophic cardiomyopathy; all four result in premature termination codons, which suggests that haploinsufficiency is a pathogenic mechanism of this type of mutation. (PMID:18337725)
- The structure of the immunoglobulin-like C1 domain of MyBP-C was solved by X-ray crystallography to a resolution of 1.55 A. (PMID:18374358)
- Homozygous mutations in the MYBPC3 gene have been identified as the cause of severe infantile HCM among the Amish population. (PMID:18467358)
- Diffraction data from the C1 domain of cMyBP-C were extended to 1.30 A resolution, where the of the diffraction data crosses 2.0, using intense synchrotron radiation. (PMID:18560154)
- MyBP-C is a highly phosphorylated protein in vivo; diminished MyBP-C phosphorylation is a feature of both end-stage heart failure and hypertrophic cardiomyopathy. (PMID:18573260)
- PKA phosphorylation of cMyBP-C accelerates crossbridge kinetics and loss of this regulation leads to cardiac dysfunction. (PMID:18802026)
- Mutations in MYBPC3 should be considered a frequent cause of hypertrophic cardiomyopathy in Poland. (PMID:18803133)
- the missense MYBPC3 mutation E334K destabilizes its protein and may contribute to cardiac dysfunction in hypertrophic cardiomyopathy through impairment of the ubiquitin-proteasome system. (PMID:18929575)
- MYBPC3 mutations can be associated with cardiac events such as progressive heart failure, stroke and sudden death even at younger age (PMID:18957093)
- MYBPC3 mutation was found involved in hypertrophic cardiomyopathy. (PMID:19035361)
- A deletion of 25 bp in the gene encoding cardiac myosin binding protein C (MYBPC3) that is associated with heritable cardiomyopathies and an increased risk of heart failure in Indian populations. (PMID:19151713)
- Frameshift MYBPC3 mutations cause haploinsufficiency, deranged phosphorylation of contractile proteins, and reduced maximal force-generating capacity of cardiomyocytes (PMID:19273718)
- Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations. (PMID:19356534)
- A new ligand of obscurin at the M-band, MyBP-C slow variant-1 and suggest that their interaction contributes to the assembly of M-and A-bands, is identified. (PMID:19403693)
- description of a family in which some experienced early development of systolic & diastolic dysfunction & others experienced sudden death at young age; identified a novel homozygous mutation (IVS6+5G>A) in MYBPC3 gene that explained the phenotype (PMID:19406073)
- The lowered relative level of full length protein in both truncation and missense MYBPC3 mutations argues strongly that haploinsufficiency is sufficient to cause hypertrophic cardiomyopathy. (PMID:19574547)
- Large deletions and duplications in MYBPC3 do not appear to play a major role in the pathogenesis of hypertrophic cardiomyopathy. (PMID:19666196)
- increased myofilament protein levels in patients with MYBPC3-mediated HCM suggest a poison peptide mechanism (PMID:19808356)
- atrogin-1 specifically targets truncated M7t-cMyBP-C, but not WT-cMyBP-C, for proteasomal degradation and that MuRF1 indirectly reduces cMyBP-C levels by regulating the transcription of myosin heavy chain. (PMID:19850579)
- Predictive genetic testing in hypertrophic cardiomyopathy families and cardiological evaluation on the presence of HCM and risk factors for sudden cardiac death are justified in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers (PMID:20019025)
- MYBPC3 mutation is presented in a small portion of Han Chinese patients with hypertrophic cardiomyopathy. (PMID:20021930)
- cMYBPC3 might be the disease-causing gene in Chinese patients with hypertrophic cardiomyopathy. (PMID:20128375)
- Report for the first time that there are four PKA phosphorylation sites in both murine and human M-domains. (PMID:20151718)
- The novel S236G mutation in MYBPC3 gene was a hot-spot mutation in Chinese patients with hypertrophic cardiomyopathy. (PMID:20193176)
- Results indicate that the MYBPC3 deletion is primarily found among Indian populations and that its distribution is consistent with genome-wide patterns of variation in India. (PMID:20201939)
- The mutations in MYBPC3 cause when a genetic cause can be identified, which has estimated to occur in 42% of hypertrophic cardiomyopathy. (PMID:20215591)
- The novel mutation S297X in MYBPC3 causes hypertrophic cardiomyopathy in a broad range of ages and heterogeneous clinical manifestations, though the clinical course in patients with this mutation seems to be benign. (PMID:20350521)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mybpc3 | ENSDARG00000011615 |
| mus_musculus | Mybpc3 | ENSMUSG00000002100 |
| rattus_norvegicus | Mybpc3 | ENSRNOG00000012307 |
Paralogs (11): MYOM2 (ENSG00000036448), FNDC3B (ENSG00000075420), MYBPC2 (ENSG00000086967), MYOM1 (ENSG00000101605), FNDC3A (ENSG00000102531), OBSL1 (ENSG00000124006), MYBPH (ENSG00000133055), MYOM3 (ENSG00000142661), IGSF22 (ENSG00000179057), MYBPC1 (ENSG00000196091), MYBPHL (ENSG00000221986)
Protein
Protein identifiers
Myosin-binding protein C, cardiac-type — Q14896 (reviewed: Q14896)
Alternative names: C-protein, cardiac muscle isoform
All UniProt accessions (3): A8MXZ9, Q14896, F5GZR4
UniProt curated annotations — full annotation on UniProt →
Function. Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.
Post-translational modifications. Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction. Polyubiquitinated.
Disease relevance. Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] 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, 1MM (CMD1MM) [MIM:615396] 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. MYBPC3 mutations may be involved in restrictive cardiomyopathy (RCM), a rare non-ischemic myocardial disease. RCM is characterized by restrictive ventricular-filling physiology in the presence of normal or reduced diastolic and/or systolic volumes (of 1 or both ventricles), biatrial enlargement, and normal ventricular wall thickness. Left ventricular non-compaction 10 (LVNC10) [MIM:615396] A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC10 is an autosomal dominant condition. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the immunoglobulin superfamily. MyBP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14896-1 | 1 | yes |
| Q14896-2 | 2 |
RefSeq proteins (1): NP_000247* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR003961 | FN3_dom | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013098 | Ig_I-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR040849 | MyBP-C_THB | Domain |
| IPR050964 | Striated_Muscle_Regulatory | Family |
Pfam: PF00041, PF07679, PF18362
UniProt features (182 total): sequence variant 92, strand 48, domain 10, modified residue 10, helix 6, binding site 4, turn 4, sequence conflict 3, chain 1, region of interest 1, compositionally biased region 1, disulfide bond 1, splice variant 1
Structure
Experimental structures (PDB)
17 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3CX2 | X-RAY DIFFRACTION | 1.3 |
| 2V6H | X-RAY DIFFRACTION | 1.55 |
| 7LRG | ELECTRON MICROSCOPY | 6.1 |
| 8G4L | ELECTRON MICROSCOPY | 6.4 |
| 7TIJ | ELECTRON MICROSCOPY | 8 |
| 7TIT | ELECTRON MICROSCOPY | 8 |
| 7TJ7 | ELECTRON MICROSCOPY | 8 |
| 6G2T | ELECTRON MICROSCOPY | 9 |
| 6CXI | ELECTRON MICROSCOPY | 11 |
| 6CXJ | ELECTRON MICROSCOPY | 11 |
| 1GXE | SOLUTION NMR | |
| 1PD6 | SOLUTION NMR | |
| 2AVG | SOLUTION NMR | |
| 2K1M | SOLUTION NMR | |
| 2MQ0 | SOLUTION NMR | |
| 2MQ3 | SOLUTION NMR | |
| 5K6P | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14896-F1 | 79.43 | 0.37 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 208; 210; 223; 225
Post-translational modifications (10): 1, 47, 275, 284, 304, 311, 427, 550, 607, 1241
Disulfide bonds (1): 436–443
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-390522 | Striated Muscle Contraction |
| R-HSA-397014 | Muscle contraction |
MSigDB gene sets: 224 (showing top):
GOBP_CARDIAC_CHAMBER_DEVELOPMENT, MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, MAZ_Q6, ROVERSI_GLIOMA_COPY_NUMBER_UP, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_SARCOMERE_ORGANIZATION, GNF2_MYL3, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_REGULATION_OF_STRIATED_MUSCLE_CONTRACTION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_REGULATION_OF_MUSCLE_CONTRACTION
GO Biological Process (8): heart morphogenesis (GO:0003007), regulation of striated muscle contraction (GO:0006942), cell adhesion (GO:0007155), regulation of muscle filament sliding (GO:0032971), sarcomere organization (GO:0045214), ventricular cardiac muscle tissue morphogenesis (GO:0055010), cardiac muscle contraction (GO:0060048), regulation of cardiac muscle cell contraction (GO:0086004)
GO Molecular Function (9): ATPase activator activity (GO:0001671), actin binding (GO:0003779), structural constituent of muscle (GO:0008307), myosin binding (GO:0017022), titin binding (GO:0031432), myosin heavy chain binding (GO:0032036), identical protein binding (GO:0042802), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (8): cytosol (GO:0005829), striated muscle myosin thick filament (GO:0005863), C zone (GO:0014705), sarcomere (GO:0030017), M band (GO:0031430), A band (GO:0031672), cardiac myofibril (GO:0097512), myosin filament (GO:0032982)
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 |
|---|---|
| cellular anatomical structure | 5 |
| cytoskeletal protein binding | 3 |
| regulation of muscle contraction | 2 |
| striated muscle contraction | 2 |
| regulation of actin filament-based movement | 2 |
| sarcomere | 2 |
| A band | 2 |
| myofibril | 2 |
| heart development | 1 |
| animal organ morphogenesis | 1 |
| cellular process | 1 |
| muscle filament sliding | 1 |
| regulation of intracellular transport | 1 |
| myofibril assembly | 1 |
| actomyosin structure organization | 1 |
| cardiac ventricle morphogenesis | 1 |
| ventricular cardiac muscle tissue development | 1 |
| cardiac muscle tissue morphogenesis | 1 |
| heart contraction | 1 |
| regulation of cardiac muscle contraction | 1 |
| cardiac muscle cell contraction | 1 |
| ATP-dependent activity | 1 |
| molecular function activator activity | 1 |
| structural molecule activity | 1 |
| myosin binding | 1 |
| protein binding | 1 |
| cation binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| muscle myosin complex | 1 |
| myosin filament | 1 |
| myofilament | 1 |
| myosin complex | 1 |
| supramolecular fiber | 1 |
Protein interactions and networks
STRING
1760 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MYBPC3 | TTN | Q8WZ42 | 987 |
| MYBPC3 | MYH7 | P12883 | 976 |
| MYBPC3 | TNNT2 | P45379 | 972 |
| MYBPC3 | TNNI3 | P19429 | 966 |
| MYBPC3 | CSRP3 | P50461 | 934 |
| MYBPC3 | TPM1 | P09493 | 930 |
| MYBPC3 | MYL3 | P08590 | 923 |
| MYBPC3 | ACTC1 | P04270 | 919 |
| MYBPC3 | MYL2 | P10916 | 892 |
| MYBPC3 | MYH6 | P13533 | 886 |
| MYBPC3 | PRKAG2 | Q9UGJ0 | 867 |
| MYBPC3 | TCAP | O15273 | 862 |
| MYBPC3 | CALM1 | P02593 | 860 |
| MYBPC3 | CALML3 | P27482 | 851 |
| MYBPC3 | CALML5 | Q9NZT1 | 851 |
IntAct
26 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ACTC1 | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.550 |
| MYH7 | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.550 |
| MYBPC3 | MYH7 | psi-mi:“MI:0915”(physical association) | 0.550 |
| MYBPC3 | ACTC1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| PDE4DIP | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.540 |
| MYBPC3 | PDE4DIP | psi-mi:“MI:0403”(colocalization) | 0.540 |
| MYBPC3 | PDE4DIP | psi-mi:“MI:0915”(physical association) | 0.540 |
| MYBPC3 | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.530 |
| MYBPC3 | MYBPC3 | psi-mi:“MI:0407”(direct interaction) | 0.530 |
| ACTB | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MYZAP | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FLNC | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CNN1 | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PARD3 | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCT7 | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SVIL | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SPATA20 | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HSPB2 | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TNNI3K | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MYBPC3 | TRIM63 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMURF2 | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CUL1 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (14): MYBPC3 (Two-hybrid), MYBPC3 (Two-hybrid), MYBPC3 (Two-hybrid), MYBPC3 (Two-hybrid), MYBPC3 (Far Western), MYBPC3 (Affinity Capture-MS), MYBPC3 (Affinity Capture-MS), MYBPC3 (Affinity Capture-MS), MYBPC3 (Affinity Capture-MS), MYBPC3 (Affinity Capture-Western), TRIM63 (Two-hybrid), MYBPC3 (Affinity Capture-MS), MYBPC3 (Two-hybrid), MYBPC3 (Two-hybrid)
ESM2 similar proteins: A2AAJ9, A2ABU4, A2RUH7, B4GBH0, D3ZGQ5, O09127, O70468, O75038, O88599, O95382, P16419, P21709, P22455, P22607, P29322, P54760, P54761, P55144, P55146, P56741, P70218, P70402, Q00653, Q06418, Q13203, Q13308, Q13425, Q14896, Q15746, Q290N5, Q32P44, Q4LDD4, Q5FW53, Q5PQM4, Q5VST9, Q5VTT5, Q60750, Q61851, Q68LP1, Q80UW5
Diamond homologs: A2AAJ9, A2ABU4, O88599, P12960, P14781, P28685, P52179, P54296, P68500, P70402, P97527, P97528, Q02173, Q07409, Q12860, Q13203, Q14896, Q28106, Q2EY15, Q2VWP7, Q2VWP9, Q589G5, Q5PQM4, Q5VTT5, Q62234, Q62682, Q63198, Q7ZW34, Q86TB3, Q91ZB0, Q924C5, Q96JA1, Q96L96, Q98936, Q9P232, A0A087WV53, A2ASS6, A2CG49, A2RUH7, F1M0Z1
SIGNOR signaling
17 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKCD | up-regulates | MYBPC3 | phosphorylation |
| PRKACA | up-regulates | MYBPC3 | phosphorylation |
| PRKACB | up-regulates | MYBPC3 | phosphorylation |
| PRKACG | up-regulates | MYBPC3 | phosphorylation |
| PDE4DIP | up-regulates | MYBPC3 | binding |
| PKA | up-regulates | MYBPC3 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
4702 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 678 |
| Likely pathogenic | 234 |
| Uncertain significance | 1911 |
| Likely benign | 1122 |
| Benign | 78 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1027653 | NM_000256.3(MYBPC3):c.2132G>A (p.Trp711Ter) | Pathogenic |
| 1069672 | NC_000011.9:g.(?47364119)(47374208_?)del | Pathogenic |
| 1069713 | NM_000256.3(MYBPC3):c.3688_3691dup (p.Ser1231fs) | Pathogenic |
| 1069832 | NC_000011.9:g.(?_47353958)_47355505del | Pathogenic |
| 1069833 | NC_000011.9:g.(?47360865)(47369466_?)del | Pathogenic |
| 1069890 | NM_000256.3(MYBPC3):c.1730G>A (p.Trp577Ter) | Pathogenic |
| 1069891 | NM_000256.3(MYBPC3):c.1546G>T (p.Glu516Ter) | Pathogenic |
| 1069892 | NM_000256.3(MYBPC3):c.1420G>T (p.Glu474Ter) | Pathogenic |
| 1069893 | NM_000256.3(MYBPC3):c.1269_1282del (p.Ser424fs) | Pathogenic |
| 1070193 | NM_000256.3(MYBPC3):c.514dup (p.Ile172fs) | Pathogenic |
| 1070637 | NM_000256.3(MYBPC3):c.2012_2013insGG (p.Pro672fs) | Pathogenic |
| 1071502 | NC_000011.10:g.47350113del | Pathogenic |
| 1072518 | NM_000256.3(MYBPC3):c.718_724del (p.Glu240fs) | Pathogenic |
| 1073146 | NM_000256.3(MYBPC3):c.3424C>T (p.Gln1142Ter) | Pathogenic |
| 1074065 | NM_000256.3(MYBPC3):c.318del (p.Ala107fs) | Pathogenic |
| 1074099 | NC_000011.10:g.47335210del | Pathogenic |
| 1074339 | NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter) | Pathogenic |
| 1074856 | NM_000256.3(MYBPC3):c.1353del (p.Glu451fs) | Pathogenic |
| 1074858 | NM_000256.3(MYBPC3):c.1048_1049del (p.Lys350fs) | Pathogenic |
| 1074948 | NM_000256.3(MYBPC3):c.3357C>G (p.Tyr1119Ter) | Pathogenic |
| 1075725 | NC_000011.9:g.(?_47363401)_47367757del | Pathogenic |
| 1075727 | NC_000011.9:g.(?47357416)(47360310_?)del | Pathogenic |
| 1076196 | NM_000256.3(MYBPC3):c.405del (p.Ser137fs) | Pathogenic |
| 1076719 | NM_000256.3(MYBPC3):c.1831G>T (p.Glu611Ter) | Pathogenic |
| 1076969 | NM_000256.3(MYBPC3):c.1839del (p.Tyr614fs) | Pathogenic |
| 1120154 | Single allele | Pathogenic |
| 1175163 | NM_000256.3(MYBPC3):c.688del (p.Gln230fs) | Pathogenic |
| 1195305 | NM_000256.3(MYBPC3):c.1900del (p.Val634fs) | Pathogenic |
| 1208791 | NM_000256.3(MYBPC3):c.1516del (p.Asp506fs) | Pathogenic |
| 1284521 | NM_000256.3(MYBPC3):c.1624+1G>A | Pathogenic |
SpliceAI
5457 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:47332185:C:CA | donor_gain | 1.0000 |
| 11:47332259:C:CC | acceptor_gain | 1.0000 |
| 11:47332560:CCCTA:C | donor_loss | 1.0000 |
| 11:47332561:CCTA:C | donor_loss | 1.0000 |
| 11:47332562:CTA:C | donor_loss | 1.0000 |
| 11:47332563:TACCT:T | donor_loss | 1.0000 |
| 11:47332564:ACCTT:A | donor_loss | 1.0000 |
| 11:47332565:CCTTG:C | donor_loss | 1.0000 |
| 11:47332703:C:CC | acceptor_gain | 1.0000 |
| 11:47332704:T:A | acceptor_loss | 1.0000 |
| 11:47332810:GCAC:G | donor_loss | 1.0000 |
| 11:47332811:CACCT:C | donor_loss | 1.0000 |
| 11:47332813:C:CA | donor_loss | 1.0000 |
| 11:47332969:CACTC:C | acceptor_gain | 1.0000 |
| 11:47332971:CTC:C | acceptor_gain | 1.0000 |
| 11:47332971:CTCCT:C | acceptor_loss | 1.0000 |
| 11:47332973:CCT:C | acceptor_loss | 1.0000 |
| 11:47332974:C:A | acceptor_loss | 1.0000 |
| 11:47332981:C:CT | acceptor_gain | 1.0000 |
| 11:47332982:A:T | acceptor_gain | 1.0000 |
| 11:47333188:GCTCA:G | donor_loss | 1.0000 |
| 11:47333190:TCACC:T | donor_loss | 1.0000 |
| 11:47333191:CACCA:C | donor_loss | 1.0000 |
| 11:47333192:A:AC | donor_gain | 1.0000 |
| 11:47333192:ACCA:A | donor_loss | 1.0000 |
| 11:47333193:C:CC | donor_gain | 1.0000 |
| 11:47333221:TGTG:T | donor_gain | 1.0000 |
| 11:47333329:CTTGT:C | acceptor_gain | 1.0000 |
| 11:47333330:TTGT:T | acceptor_gain | 1.0000 |
| 11:47333331:TGT:T | acceptor_gain | 1.0000 |
AlphaMissense
8316 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:47332894:A:G | F1137S | 1.000 |
| 11:47333268:A:G | W1086R | 1.000 |
| 11:47333268:A:T | W1086R | 1.000 |
| 11:47343529:A:G | W396R | 1.000 |
| 11:47343529:A:T | W396R | 1.000 |
| 11:47332173:A:G | L1238P | 0.999 |
| 11:47332875:A:C | N1143K | 0.999 |
| 11:47332875:A:T | N1143K | 0.999 |
| 11:47332888:A:T | V1139D | 0.999 |
| 11:47332891:C:G | R1138P | 0.999 |
| 11:47332970:A:G | W1112R | 0.999 |
| 11:47332970:A:T | W1112R | 0.999 |
| 11:47333216:T:G | Q1103P | 0.999 |
| 11:47333266:C:A | W1086C | 0.999 |
| 11:47333266:C:G | W1086C | 0.999 |
| 11:47333267:C:G | W1086S | 0.999 |
| 11:47333620:A:C | Y1043D | 0.999 |
| 11:47333726:C:A | W1007C | 0.999 |
| 11:47333726:C:G | W1007C | 0.999 |
| 11:47333728:A:G | W1007R | 0.999 |
| 11:47333728:A:T | W1007R | 0.999 |
| 11:47335119:C:G | R943P | 0.999 |
| 11:47335122:A:G | F942S | 0.999 |
| 11:47335944:C:A | W890C | 0.999 |
| 11:47335944:C:G | W890C | 0.999 |
| 11:47335946:A:G | W890R | 0.999 |
| 11:47335946:A:T | W890R | 0.999 |
| 11:47335957:A:T | V886D | 0.999 |
| 11:47337443:G:C | N850K | 0.999 |
| 11:47337443:G:T | N850K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000137754 (11:47339238 T>C), RS1000273869 (11:47339492 C>T), RS1000474266 (11:47337881 C>A,G,T), RS1000507420 (11:47353636 T>A,C), RS1000609568 (11:47338339 A>G), RS1000675950 (11:47332410 T>C,G), RS1000835223 (11:47336126 G>A), RS1000912631 (11:47353825 G>A), RS1000925960 (11:47348819 C>T), RS1000989674 (11:47341834 C>A,G,T), RS1001124566 (11:47334191 G>C), RS1001201185 (11:47340598 C>T), RS1001278854 (11:47340437 G>A), RS1001385542 (11:47334894 G>A,T), RS1001635661 (11:47350701 C>A,T)
Disease associations
OMIM: gene MIM:600958 | disease phenotypes: MIM:615396, MIM:115197, MIM:604169, MIM:192600, MIM:601144, MIM:115200, MIM:600996, MIM:604772, MIM:194200, MIM:107970, MIM:105210, MIM:604765, MIM:142623
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| hypertrophic cardiomyopathy 4 | Definitive | Autosomal dominant |
| left ventricular noncompaction 10 | Definitive | Autosomal dominant |
| hypertrophic cardiomyopathy | Definitive | Autosomal dominant |
| familial isolated dilated cardiomyopathy | Supportive | Autosomal dominant |
| atrial fibrillation | Limited | Autosomal dominant |
| dilated cardiomyopathy | Limited | Autosomal dominant |
| congenital heart disease | Limited | Autosomal dominant |
ClinGen Gene-Disease Validity (5)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| arrhythmogenic right ventricular cardiomyopathy | Limited | AD |
| congenital heart disease | Limited | AD |
| dilated cardiomyopathy | Limited | AD |
| hypertrophic cardiomyopathy | Definitive | AD |
| dilated cardiomyopathy | Limited | AR |
Mondo (32): hypertrophic cardiomyopathy (MONDO:0005045), cardiomyopathy (MONDO:0004994), left ventricular noncompaction 10 (MONDO:0014163), hypertrophic cardiomyopathy 4 (MONDO:0007268), left ventricular noncompaction 1 (MONDO:0011403), familial hypertrophic cardiomyopathy (MONDO:0024573), Brugada syndrome (MONDO:0015263), dilated cardiomyopathy (MONDO:0005021), dilated cardiomyopathy 1A (MONDO:0007269), hypertrophic cardiomyopathy 1 (MONDO:0008647), left ventricular noncompaction (MONDO:0018901), mitochondrial disease (MONDO:0044970), catecholaminergic polymorphic ventricular tachycardia 1 (MONDO:0011484), long QT syndrome (MONDO:0002442), heart failure (MONDO:0005252)
Orphanet (19): Rare hypertrophic cardiomyopathy (Orphanet:217569), Familial isolated dilated cardiomyopathy (Orphanet:154), Rare cardiomyopathy (Orphanet:167848), Left ventricular noncompaction (Orphanet:54260), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Brugada syndrome (Orphanet:130), Dilated cardiomyopathy (Orphanet:217604), Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (Orphanet:300751), Mitochondrial disease (Orphanet:68380), Catecholaminergic polymorphic ventricular tachycardia (Orphanet:3286), Uhl anomaly (Orphanet:3403), ATTRV30M amyloidosis (Orphanet:85447), ATTRV122I amyloidosis (Orphanet:85451), Inherited arrhythmogenic cardiomyopathy (Orphanet:247), Familial dilated cardiomyopathy (Orphanet:217607)
HPO phenotypes
48 total (30 of 48 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:0001541 | Ascites |
| HP:0001635 | Congestive heart failure |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001640 | Cardiomegaly |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001645 | Sudden cardiac death |
| HP:0001663 | Ventricular fibrillation |
| HP:0001678 | Atrioventricular block |
| HP:0001695 | Cardiac arrest |
| HP:0001698 | Pericardial effusion |
| HP:0001714 | Ventricular hypertrophy |
| HP:0001727 | Thromboembolic stroke |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002094 | Dyspnea |
| HP:0002098 | Respiratory distress |
| HP:0002240 | Hepatomegaly |
| HP:0002326 | Transient ischemic attack |
| HP:0002875 | Exertional dyspnea |
| HP:0003198 | Myopathy |
| HP:0003457 | EMG abnormality |
| HP:0003581 | Adult onset |
| HP:0003584 | Late onset |
| HP:0003621 | Juvenile onset |
| HP:0003623 | Neonatal onset |
GWAS associations
64 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002315_3 | Thrombin generation potential phenotypes | 5.000000e-22 |
| GCST004521_165 | Autism spectrum disorder or schizophrenia | 3.000000e-08 |
| GCST005232_56 | Neuroticism | 1.000000e-16 |
| GCST006394_89 | Intraocular pressure | 1.000000e-18 |
| GCST006923_11 | Loneliness | 1.000000e-07 |
| GCST006924_13 | Loneliness (MTAG) | 1.000000e-08 |
| GCST006944_48 | Experiencing mood swings | 1.000000e-08 |
| GCST007269_198 | Pulse pressure | 4.000000e-14 |
| GCST007825_4 | Alzheimer’s disease or fasting glucose levels (pleiotropy) | 3.000000e-16 |
| GCST007930_119 | Medication use (agents acting on the renin-angiotensin system) | 5.000000e-13 |
| GCST008070_129 | HDL cholesterol levels | 2.000000e-07 |
| GCST008070_61 | HDL cholesterol levels | 9.000000e-16 |
| GCST008070_86 | HDL cholesterol levels | 4.000000e-09 |
| GCST008074_162 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 1.000000e-08 |
| GCST008074_56 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 6.000000e-07 |
| GCST008075_161 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 4.000000e-29 |
| GCST008075_219 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 2.000000e-08 |
| GCST008075_23 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 5.000000e-28 |
| GCST008083_51 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 1.000000e-06 |
| GCST008083_99 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 2.000000e-08 |
| GCST008084_156 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 5.000000e-69 |
| GCST008084_35 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 6.000000e-31 |
| GCST008084_68 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 1.000000e-48 |
| GCST008085_133 | HDL cholesterol levels in current drinkers | 2.000000e-17 |
| GCST008085_2 | HDL cholesterol levels in current drinkers | 6.000000e-07 |
| GCST008085_55 | HDL cholesterol levels in current drinkers | 4.000000e-22 |
| GCST008087_31 | Triglyceride levels in current drinkers | 2.000000e-07 |
| GCST008757_6 | Alcohol consumption | 5.000000e-14 |
| GCST009597_53 | Multiple sclerosis | 1.000000e-13 |
| GCST010002_238 | Refractive error | 2.000000e-14 |
EFO canonical traits (15, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005538 | thrombin generation potential measurement |
| EFO:0007660 | neuroticism measurement |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0007865 | loneliness measurement |
| EFO:0008475 | mood instability measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0009931 | Agents acting on the renin-angiotensin system use measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004329 | alcohol drinking |
| EFO:0008111 | diet measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004327 | electrocardiography |
| EFO:0005091 | monocyte count |
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 |
| D001281 | Atrial Fibrillation | C14.280.067.198; C23.550.073.198 |
| D053840 | Brugada Syndrome | C14.280.067.322; C14.280.123.250; C16.320.100 |
| 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 |
| D006323 | Heart Arrest | C14.280.383 |
| D006330 | Heart Defects, Congenital | C14.240.400; C14.280.400; C16.131.240.400 |
| D006333 | Heart Failure | C14.280.434 |
| D006627 | Hirschsprung Disease | C06.198.439; C06.405.469.158.701.439; C16.131.314.439 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D008133 | Long QT Syndrome | C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547 |
| D014927 | Wolff-Parkinson-White Syndrome | C14.280.067.780.977; C14.280.123.750.977; C16.131.240.400.980 |
| C563409 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 (supp.) | |
| C565752 | Cardiomyopathy, Dilated, 1i (supp.) | |
| C566169 | Cardiomyopathy, Familial Hypertrophic, 4 (supp.) | |
| C536231 | familial dilated cardiomyopathy (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Myosin binding proteins
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | increases abundance, affects expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Folic Acid | affects expression | 1 |
| Isoproterenol | affects cotreatment, increases response to substance | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phenylephrine | affects cotreatment, increases response to substance | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Sodium Selenite | decreases expression | 1 |
Cellosaurus cell lines
46 cell lines: 44 induced pluripotent stem cell, 1 transformed cell line, 1 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A0YS | UKEi070-A | Induced pluripotent stem cell | Female |
| CVCL_A0YT | UKEi070-A-1 | Induced pluripotent stem cell | Female |
| CVCL_A0YU | UKEi070-A-2 | Induced pluripotent stem cell | Female |
| CVCL_A2PZ | GM27131 | Transformed cell line | Male |
| CVCL_A3ZE | FJMA0001i-HCM | Induced pluripotent stem cell | Male |
| CVCL_A5EW | EHTJUi003-A | Induced pluripotent stem cell | Female |
| CVCL_A5FU | SCVIi001-A | Induced pluripotent stem cell | Male |
| CVCL_A5FV | SCVIi002-A | Induced pluripotent stem cell | Female |
| CVCL_A5VV | ICGi029-A | Induced pluripotent stem cell | Female |
| CVCL_B0JP | SHIPMi001-A | Induced pluripotent stem cell | Male |
Clinical trials (associated diseases)
527 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00032591 | PHASE4 | COMPLETED | The Home INR Study |
| NCT00127712 | PHASE4 | COMPLETED | Prevention of Atrial Fibrillation Following Noncardiac Thoracic Surgery |
| NCT00157781 | PHASE4 | COMPLETED | LEAF - Low Energy In Atrial Fibrillation |
| NCT00170313 | PHASE4 | TERMINATED | CORE: Study to Evaluate the Conducted AF-Response-Algorithm in Patients Suffering From Heart Failure and Atrial Fibrillation |
| NCT00189319 | PHASE4 | COMPLETED | To Evaluate the Impact of Oral Flecainide on Quality of Life in Patients With Paroxysmal Atrial Fibrillation |
| NCT00196144 | PHASE4 | COMPLETED | FFS - Far Field Sensing Test Study in Cardiac Dual Chamber Pacemakers |
| NCT00196157 | PHASE4 | UNKNOWN | Line Versus Spot Ablation in Persistent Atrial Fibrillation |
| NCT00196183 | PHASE4 | COMPLETED | Trigger- vs. Substrate-Ablation for Paroxysmal Atrial Fibrillation |
| NCT00196209 | PHASE4 | UNKNOWN | Cardioversion vs. Catheter Ablation for Persistent Atrial Fibrillation |
| NCT00227344 | PHASE4 | TERMINATED | CACAF2 Study: Catheter Ablation for Cure of Atrial Fibrillation |
| NCT00232219 | PHASE4 | COMPLETED | Use of Fish Oils to Reduce Recurrence of Atrial Fibrillation Following DC Cardioversion |
| NCT00232232 | PHASE4 | COMPLETED | Use of Fish Oils to Prevent Atrial Mechanical Stunning and Atrial Remodeling Due to Atrial Arrhythmia |
| NCT00232245 | PHASE4 | COMPLETED | Use of Fish Oils to Reduce the Frequency and Duration of Episodes of Atrial Fibrillation in Patients With Paroxysmal Atrial Fibrillation. |
| NCT00239226 | PHASE4 | COMPLETED | Electrophysiologically Guided PAcing Site Selection Study |
| NCT00247780 | PHASE4 | COMPLETED | Cavotricuspid Isthmusblock and Circumferential Pulmonary Vein Isolation in Patients With Atrial Fibrillation |
| NCT00256152 | PHASE4 | COMPLETED | Asymptomatic Atrial Fibrillation and Stroke Evaluation in Pacemaker Patients and the Atrial Fibrillation Reduction Atrial Pacing Trial |
| NCT00262119 | PHASE4 | COMPLETED | MINERVA: MINimizE Right Ventricular Pacing to Prevent Atrial Fibrillation and Heart Failure |
| NCT00287209 | PHASE4 | COMPLETED | Reduction of Atrial Fibrillation Study in Patients Undergoing Coronary Artery Bypass Grafting. (RASCABG 1 Study) |
| NCT00289042 | PHASE4 | COMPLETED | Assessment of Cardioversion Using Transesophageal Echocardiography II (ACUTE II) |
| NCT00313443 | PHASE4 | COMPLETED | Concentrations of Amiodarone in Fat Tissue During Chronic Treatment |
| NCT00340314 | PHASE4 | COMPLETED | A Trial of Circumferential Pulmonary Vein Ablation (CPVA) Versus Antiarrhythmic Drug Therapy in for Paroxysmal Atrial Fibrillation (AF) |
| NCT00343499 | PHASE4 | TERMINATED | The Use of DIOVAN to Reduce Post-Cardioversion Recurrence of Atrial Fibrillation Trial (the DRAFT Trial) |
| NCT00408473 | PHASE4 | TERMINATED | Comparative Study of Flecainide CR and Placebo in the Early Treatment of Atrial Fibrillation. |
| NCT00420017 | PHASE4 | COMPLETED | Prevention of Atrial Fibrillation Following Esophagectomy |
| NCT00438113 | PHASE4 | COMPLETED | Atrial Substrate Modification With Aggressive Blood Pressure Lowering to Prevent AF |
| NCT00446966 | PHASE4 | COMPLETED | Fish Oil for Reduction of Atrial Fibrillation After Cardiac Surgery |
| NCT00449410 | PHASE4 | COMPLETED | Silent Cerebrovascular Lesion and Cognitive Decline Prevention by Cholesterol Lowering in Elderly AF Patients |
| NCT00466973 | PHASE4 | WITHDRAWN | Atrial Fibrillation Ablation Device Comparison Study |
| NCT00511173 | PHASE4 | COMPLETED | Comparison of Warfarin Dosing Using Decision Model Versus Pharmacogenetic Algorithm |
| NCT00512915 | PHASE4 | COMPLETED | Avoid FFS - Use of the Atrial Pacemaker Lead 1699 With Very Short Tip Ring Spacing to Avoid Far Field Sensing |
| NCT00552084 | PHASE4 | COMPLETED | Evaluating the Effectiveness of Fish Oil Supplements at Reducing the Recurrence of Atrial Fibrillation |
| NCT00559988 | PHASE4 | TERMINATED | Combined Use of BIOTRONIK Home Monitoring and Predefined Anticoagulation to Reduce Stroke Risk |
| NCT00579098 | PHASE4 | COMPLETED | The Use of Statins Following a Left Atrial Catheter Ablation Procedure to Prevent Atrial Fibrillation |
| NCT00586287 | PHASE4 | COMPLETED | Study to Find Out the Appropriate Initial Dose of the Anticoagulant Drug Phenprocoumon |
| NCT00597077 | PHASE4 | COMPLETED | Atrial Fibrillation and Congestive Heart Failure Trial |
| NCT00603317 | PHASE4 | COMPLETED | Pharmacodynamic Drug Interaction Between Warfarin and Amoxicillin-clavulanic Acid |
| NCT00605748 | PHASE4 | UNKNOWN | Pulmonary Vein (PV) -Isolation: Arrhythmogenic Vein(s) Versus All Veins |
| NCT00643188 | PHASE4 | COMPLETED | Catheter Ablation vs. Standard Conventional Treatment in Patients With LV Dysfunction and AF |
| NCT00678340 | PHASE4 | COMPLETED | Randomized Trial of Two Ablation Catheters in Paroxysmal Atrial Fibrillation |
| NCT00680927 | PHASE4 | COMPLETED | Reveal® XT Performance Trial (XPECT) |
Related Atlas pages
- Associated diseases: atrial fibrillation, hypertrophic cardiomyopathy 4, left ventricular noncompaction 10, dilated cardiomyopathy, hypertrophic cardiomyopathy, congenital heart disease, familial isolated dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): amyloidosis, hereditary systemic 1, arrhythmogenic right ventricular cardiomyopathy, arrhythmogenic right ventricular dysplasia 1, atrial fibrillation, Brugada syndrome, cardiac arrest, cardiomyopathy, dilated, 1MM, cardiomyopathy, familial hypertrophic, 4, susceptibility to, catecholaminergic polymorphic ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia 1, congenital heart disease, dilated cardiomyopathy, dilated cardiomyopathy 1A, dilated cardiomyopathy 1I, familial dilated cardiomyopathy, familial hypertrophic cardiomyopathy, heart failure, Hirschsprung disease, hypertrophic cardiomyopathy, hypertrophic cardiomyopathy 1, hypertrophic cardiomyopathy 4, left ventricular noncompaction, left ventricular noncompaction 1, left ventricular noncompaction 10, paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome