Entity Details

Primary name MYBPC3
Entity type gene
Source Source Link

Details

PrimaryID4607
RefseqGeneNG_007667
SymbolMYBPC3
Namemyosin binding protein C3
Chromosome11
Location11p11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMYPC3_HUMAN

GO terms

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GOName
GO:0001671 ATPase activator activity
GO:0003007 heart morphogenesis
GO:0003779 actin binding
GO:0005829 cytosol
GO:0005863 striated muscle myosin thick filament
GO:0006942 regulation of striated muscle contraction
GO:0007155 cell adhesion
GO:0008307 structural constituent of muscle
GO:0014705 C zone
GO:0017022 myosin binding
GO:0030017 sarcomere
GO:0030049 muscle filament sliding
GO:0031432 titin binding
GO:0031672 A band
GO:0032036 myosin heavy chain binding
GO:0032781 positive regulation of ATPase activity
GO:0032971 regulation of muscle filament sliding
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction
GO:0097512 cardiac myofibril

Diseases

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Disease IDSourceNameDescription
615396 OMIMCardiomyopathy, dilated 1MM (CMD1MM)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.
615396 OMIMCardiomyopathy, dilated 1MM (CMD1MM)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.
115197 OMIMCardiomyopathy, familial hypertrophic 4 (CMH4)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.