MYBPC3 (Myosin Binding Protein C, Cardiac)
Key sarcomere gene associated with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM).
Gene Information Card
| Symbol | MYBPC3 |
|---|---|
| Full Name | Myosin Binding Protein C, Cardiac |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 4607 ncbi.nlm.nih.gov/gene/4607 |
| Ensembl ID | ENSG00000134571 |
| UniProt ID | Q14896 |
| OMIM ID | 600958 |
| HGNC ID | 7551 |
| Aliases | CMH4, FHC, MYBP-C, C-protein, cardiac myosin binding protein C |
Description
MYBPC3 encodes cardiac myosin binding protein C (cMyBP-C), a structural protein of the sarcomere that regulates cardiac muscle contraction. It binds myosin heavy chain and titin, modulating cross-bridge formation and contractile kinetics. Mutations in MYBPC3 are the most common genetic cause of hypertrophic cardiomyopathy (HCM) and are also associated with dilated cardiomyopathy (DCM).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic cardiomyopathy (HCM) | Truncating or missense mutations disrupt sarcomere assembly and increase Ca2+ sensitivity, leading to myocyte hypertrophy and disarray. | ClinVar, OMIM |
| Dilated cardiomyopathy (DCM) | Loss-of-function variants impair contractile force generation, causing ventricular dilation and systolic dysfunction. | ClinVar, OMIM |
| Left ventricular noncompaction (LVNC) | Rare MYBPC3 variants may impair myocardial compaction during development. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 287.1 | High |
| Skeletal muscle | 1.2 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPSC-derived) | High | Model for HCM studies |
| HEK293 | Low | Overexpression studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2373dupG (p.Trp792fs) | Frameshift | ~2% in HCM cohorts | Loss of function; truncated protein |
| c.772G>A (p.Glu258Lys) | Missense | <1% | Altered myosin binding; dominant negative |
| c.821+1G>A | Splice site | Rare | Exon skipping; loss of function |
Mutation functional classification
Loss of Function (LOF)
Truncating mutations (nonsense, frameshift, splice) lead to haploinsufficiency; reduced cMyBP-C levels impair sarcomere stability.
Gain of Function (GOF)
Not commonly described; some missense variants may increase myosin binding affinity, but evidence is limited.
Dominant Negative (DN)
Missense mutations (e.g., p.Glu258Lys) produce a mutant protein that interferes with wild-type function, disrupting sarcomere assembly.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • myosin binding |
| • sarcomere organization | • cardiac muscle contraction |
| • striated muscle contraction |
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Hypertrophic cardiomyopathy (KEGG: hsa05410)
• Dilated cardiomyopathy (KEGG: hsa05414)
Protein Summary
Cardiac myosin binding protein C (cMyBP-C) is a 1274-amino-acid sarcomeric protein with 8 immunoglobulin-like and 3 fibronectin type III domains. It localizes to the A-band of the sarcomere, where it binds myosin heavy chain and titin. cMyBP-C modulates cross-bridge cycling kinetics and is essential for normal cardiac contractility. Phosphorylation by PKA and other kinases regulates its function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYBPC3 Knockout HEK293 Cell Line | EDJ-KQ5279 | Human | 4607 | Details Get a Quote |
| MYBPC3 Knockout HeLa Cell Line | EDJ-KQ53931 | Human | 4607 | Details Get a Quote |
| MYBPC3 Knockout A-549 Cell Line | EDJ-KQ62425 | Human | 4607 | Details Get a Quote |
| MYBPC3 Knockout HCT 116 Cell Line | EDJ-KQ70892 | Human | 4607 | Details Get a Quote |
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