MYBPH: Myosin Binding Protein H
A sarcomeric protein involved in muscle contraction and cardiac function
Gene Information Card
| Symbol | MYBPH |
|---|---|
| Full Name | myosin binding protein H |
| Gene Type | protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 4608 ncbi.nlm.nih.gov/gene/4608 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | Q13203 |
| OMIM ID | 160795 |
| HGNC ID | 7552 |
| Aliases | MYBPH, HCM, MYBPH_HUMAN |
Description
MYBPH (myosin binding protein H) is a protein-coding gene located on chromosome 7q11.23. It encodes a member of the myosin binding protein family, which is expressed in cardiac and skeletal muscle. The protein binds to myosin and is involved in the regulation of muscle contraction, particularly in the sarcomere. MYBPH is associated with hypertrophic cardiomyopathy and other cardiac disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic Cardiomyopathy | Altered myosin binding disrupts sarcomere assembly and contractility | ClinVar, OMIM |
| Dilated Cardiomyopathy | Impaired myosin binding leads to reduced contractile force | ClinVar |
| Cardiomyopathy, Familial Hypertrophic | Mutations in MYBPH affect myosin filament stability | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 8.3 | Medium |
| Esophagus | 2.1 | Low |
| Thyroid | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 15.2 | High expression |
| Skeletal Muscle Myotubes | 9.8 | Moderate expression |
| Fibroblasts | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | Altered myosin binding affinity |
| c.567G>A | Nonsense | 0.005% | Premature truncation, loss of function |
| c.890_891insA | Frameshift | 0.002% | Disrupted protein structure |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, reducing myosin binding and sarcomere integrity.
Gain of Function (GOF)
Not reported for MYBPH.
Dominant Negative (DN)
Missense mutations may produce a protein that interferes with wild-type function, contributing to cardiomyopathy.
View complete mutation data：
Gene Ontology (GO)
| • myosin binding | • actin binding |
| • sarcomere organization | • muscle contraction |
| • cardiac muscle contraction |
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Hypertrophic cardiomyopathy (KEGG: hsa05410)
• Dilated cardiomyopathy (KEGG: hsa05414)
Protein Summary
Myosin binding protein H is a 521-amino acid protein that localizes to the sarcomere A-band. It contains immunoglobulin-like and fibronectin type III domains, mediating interaction with myosin heavy chain. The protein modulates cross-bridge cycling and is essential for normal cardiac and skeletal muscle function. Mutations are linked to cardiomyopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYBPH Knockout HEK293 Cell Line | EDJ-KQ5280 | Human | 4608 | Details Get a Quote |
| MYBPHL Knockout HEK293 Cell Line | EDJ-KQ14338 | Human | 343263 | Details Get a Quote |
| MYBPH Knockout HeLa Cell Line | EDJ-KQ53932 | Human | 4608 | Details Get a Quote |
| MYBPHL Knockout HeLa Cell Line | EDJ-KQ59752 | Human | 343263 | Details Get a Quote |
| MYBPH Knockout A-549 Cell Line | EDJ-KQ62426 | Human | 4608 | Details Get a Quote |
| MYBPHL Knockout A-549 Cell Line | EDJ-KQ68221 | Human | 343263 | Details Get a Quote |
| MYBPH Knockout HCT 116 Cell Line | EDJ-KQ70893 | Human | 4608 | Details Get a Quote |
| MYBPHL Knockout HCT 116 Cell Line | EDJ-KQ76597 | Human | 343263 | Details Get a Quote |
