MYH15: Myosin Heavy Chain 15
A sarcomeric myosin gene with implications in muscle function and disease
Gene Information Card
| Symbol | MYH15 |
|---|---|
| Full Name | myosin heavy chain 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q13.13 |
| NCBI Gene ID | 22989 ncbi.nlm.nih.gov/gene/22989 |
| Ensembl ID | ENSG00000144821 |
| UniProt ID | Q9Y2K3 |
| OMIM ID | 609929 |
| HGNC ID | 7579 |
| Aliases | KIAA1000, MyHC-15, MYH15a, MYH15b |
Description
MYH15 encodes a member of the myosin heavy chain family, specifically a sarcomeric myosin expressed predominantly in skeletal and cardiac muscle. The protein is a molecular motor that converts chemical energy from ATP hydrolysis into mechanical force, essential for muscle contraction. MYH15 is involved in the structural integrity of the sarcomere and may play a role in muscle fiber type specification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic cardiomyopathy | Altered sarcomeric contractility due to MYH15 mutations | ClinVar, OMIM |
| Dilated cardiomyopathy | Disrupted myosin function leading to impaired cardiac output | ClinVar |
| Skeletal muscle myopathy | Defective myosin motor activity causing muscle weakness | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 45.2 | High |
| Heart | 28.1 | Medium |
| Esophagus | 12.3 | Medium |
| Thyroid | 5.6 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 62.4 | High expression |
| HSMM (skeletal muscle myoblasts) | 38.7 | Differentiated myotubes |
| AC16 (cardiomyocyte) | 22.1 | Cardiac model |
| HeLa | 0.8 | Negligible |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | missense | 0.001% | Altered ATPase activity |
| c.2567A>G (p.Asn856Ser) | missense | 0.002% | Reduced actin binding |
| c.3456_3458del (p.Phe1152del) | in-frame deletion | <0.001% | Disrupted sarcomere assembly |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the motor domain reduce ATPase activity and force generation.
Gain of Function (GOF)
Not reported for MYH15.
Dominant Negative (DN)
Deletion variants may interfere with wild-type myosin filament formation.
View complete mutation data：
Gene Ontology (GO)
| • motor activity (GO:0003774) | • ATP binding (GO:0005524) |
| • myosin complex (GO:0016459) | • myosin filament (GO:0032982) |
| • cardiac muscle contraction (GO:0060048) | • muscle contraction (GO:0006936) |
Pathways
• Reactome: Muscle contraction (R-HSA-397014)
• Reactome: Striated muscle contraction (R-HSA-390522)
• KEGG: Cardiac muscle contraction (hsa04260)
Protein Summary
MYH15 is a sarcomeric myosin heavy chain protein (approx. 220 kDa) that forms the thick filament of muscle sarcomeres. It contains an N-terminal motor domain with ATPase activity, a neck region with light chain binding sites, and a C-terminal tail domain responsible for filament assembly. The protein is essential for generating contractile force in skeletal and cardiac muscle. Alternative splicing produces isoforms with distinct tissue distributions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYH15 Knockout HEK293 Cell Line | EDJ-KQ7766 | Human | 22989 | Details Get a Quote |
| MYH15 Knockout HCT 116 Cell Line | EDJ-KQ33230 | Human | 22989 | Details Get a Quote |
| MYH15 Knockout HeLa Cell Line | EDJ-KQ55667 | Human | 22989 | Details Get a Quote |
| MYH15 Knockout A-549 Cell Line | EDJ-KQ64166 | Human | 22989 | Details Get a Quote |
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