MYOM2: Myomesin 2 - A Key Sarcomeric M-Band Protein in Cardiac and Skeletal Muscle
Comprehensive genomic and proteomic analysis of MYOM2, including gene structure, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | MYOM2 |
|---|---|
| Full Name | myomesin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 9172 ncbi.nlm.nih.gov/gene/9172 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | P54296 |
| OMIM ID | 603509 |
| HGNC ID | 7614 |
| Aliases | MYOM2, 160 kDa myomesin, M-protein |
Description
MYOM2 encodes myomesin 2, a 165 kDa protein that is a major component of the sarcomeric M-band in both cardiac and skeletal muscle. It functions as a molecular spring and stabilizer of the thick filament lattice, interacting with titin, myosin, and other M-band proteins. MYOM2 is essential for maintaining sarcomere integrity and muscle contractile function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic cardiomyopathy (HCM) | MYOM2 mutations may disrupt M-band assembly and sarcomere stability, leading to myocyte hypertrophy and diastolic dysfunction. | ClinVar: pathogenic/likely pathogenic variants reported; OMIM: 603509 |
| Dilated cardiomyopathy (DCM) | Loss-of-function variants in MYOM2 can impair sarcomere organization, reducing contractile force and causing ventricular dilation. | ClinVar: variants of uncertain significance; limited case reports |
| Myopathy, distal, with rimmed vacuoles | Rare MYOM2 missense variants have been associated with distal muscle weakness and rimmed vacuole pathology. | OMIM: 603509; case studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 38.7 | High |
| Esophagus | 2.1 | Low |
| Adipose tissue | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 52.3 | High expression; consistent with cardiac function |
| Skeletal muscle myotubes | 41.0 | High expression; differentiation-dependent |
| HeLa | 0.2 | Not expressed; non-muscle origin |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Likely pathogenic; disrupts titin binding |
| c.567_569del (p.Glu189del) | In-frame deletion | <0.01% | Uncertain significance; may affect M-band assembly |
| c.2101G>A (p.Gly701Arg) | Missense | <0.01% | Benign; population frequency >0.1% |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift variants leading to truncated protein and haploinsufficiency; associated with DCM.
Gain of Function (GOF)
Not described for MYOM2.
Dominant Negative (DN)
Missense variants that disrupt M-band structure and titin interaction; implicated in HCM.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Striated Muscle Contraction (Reactome: R-HSA-390522)
• Sarcomere Organization (Reactome: R-HSA-5250913)
• Cardiac muscle contraction (KEGG: hsa04260)
Protein Summary
Myomesin 2 is a 165 kDa protein localized to the M-band of sarcomeres in striated muscle. It contains immunoglobulin-like and fibronectin type III domains that mediate interactions with titin, myosin, and other M-band components. Myomesin 2 acts as a molecular spring, contributing to sarcomere elasticity and stability during muscle contraction and relaxation. Its expression is highest in heart and skeletal muscle, and mutations are linked to hypertrophic and dilated cardiomyopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYOM2 Knockout HEK293 Cell Line | EDJ-KQ2865 | Human | 9172 | Details Get a Quote |
| MYOM2 Knockout A-549 Cell Line | EDJ-KQ23895 | Human | 9172 | Details Get a Quote |
| MYOM2 Knockout HCT 116 Cell Line | EDJ-KQ23896 | Human | 9172 | Details Get a Quote |
| MYOM2 Knockout HeLa Cell Line | EDJ-KQ55097 | Human | 9172 | Details Get a Quote |
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