MYBPC2: Myosin Binding Protein C2
Cardiac and skeletal muscle sarcomere component involved in contractile regulation
Gene Information Card
| Symbol | MYBPC2 |
|---|---|
| Full Name | Myosin Binding Protein C2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 4606 ncbi.nlm.nih.gov/gene/4606 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q14324 |
| OMIM ID | 160795 |
| HGNC ID | 7552 |
| Aliases | MYBPC2, C-protein, cardiac myosin binding protein C2 |
Description
MYBPC2 encodes myosin binding protein C2, a member of the myosin binding protein family that localizes to the sarcomere A-band. It binds myosin heavy chain and titin, modulating cross-bridge cycling and muscle contraction. Expressed predominantly in cardiac and skeletal muscle, it plays a role in sarcomere assembly and contractile regulation. Mutations are associated with hypertrophic cardiomyopathy and other myopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic Cardiomyopathy | Missense mutations disrupt sarcomere assembly and increase myofilament Ca2+ sensitivity | ClinVar, OMIM |
| Dilated Cardiomyopathy | Loss-of-function variants impair contractile force generation | ClinVar |
| Skeletal Muscle Myopathy | Altered myosin binding reduces muscle fiber integrity | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal Muscle | 8.2 | Medium |
| Esophagus | 1.3 | Low |
| Thyroid | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 15.0 | High expression |
| Skeletal muscle myoblasts (HSMM) | 9.8 | Moderate expression |
| HeLa | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.772C>T (p.Arg258Cys) | Missense | <0.01% | Altered myosin binding affinity; associated with HCM |
| c.1483G>A (p.Glu495Lys) | Missense | <0.01% | Reduced sarcomere stability; linked to DCM |
| c.2101delG (p.Val701fs) | Frameshift | Rare | Loss of C-terminal domain; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations truncate the protein, reducing myosin binding and sarcomere integrity.
Gain of Function (GOF)
Not reported for MYBPC2.
Dominant Negative (DN)
Missense variants may interfere with wild-type protein function in sarcomere assembly.
View complete mutation data：
Gene Ontology (GO)
| • myosin binding | • actin binding |
| • sarcomere organization | • muscle contraction |
| • cardiac muscle contraction | • protein homodimerization activity |
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Hypertrophic cardiomyopathy (KEGG: hsa05410)
• Dilated cardiomyopathy (KEGG: hsa05414)
Protein Summary
MYBPC2 is a 1274-amino acid protein with immunoglobulin and fibronectin type III domains. It binds myosin heavy chain and titin, regulating cross-bridge kinetics. Phosphorylation by PKA modulates its function. Expressed in cardiac and skeletal muscle, it is essential for sarcomere organization and contractile regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYBPC2 Knockout HEK293 Cell Line | EDJ-KQ5278 | Human | 4606 | Details Get a Quote |
| MYBPC2 Knockout HeLa Cell Line | EDJ-KQ53930 | Human | 4606 | Details Get a Quote |
| MYBPC2 Knockout A-549 Cell Line | EDJ-KQ62424 | Human | 4606 | Details Get a Quote |
| MYBPC2 Knockout HCT 116 Cell Line | EDJ-KQ70891 | Human | 4606 | Details Get a Quote |
