MYOM3 Gene - Myomesin 3
Structural component of the sarcomeric M-band in striated muscle
Gene Information Card
| Symbol | MYOM3 |
|---|---|
| Full Name | myomesin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 127294 ncbi.nlm.nih.gov/gene/127294 |
| Ensembl ID | ENSG00000142661 |
| UniProt ID | Q5VTT5 |
| OMIM ID | 610117 |
| HGNC ID | 25578 |
| Aliases | MYOM3, myomesin family member 3 |
Description
MYOM3 encodes myomesin 3, a member of the myomesin family of proteins that are structural components of the sarcomeric M-band in striated muscle. Myomesin 3 is specifically expressed in skeletal and cardiac muscle and plays a role in maintaining sarcomere integrity by cross-linking myosin filaments. It interacts with other M-band proteins such as myomesin 1 and myomesin 2, contributing to the mechanical stability of the sarcomere during muscle contraction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated | Disruption of sarcomere integrity due to MYOM3 mutations may impair contractile function | ClinVar; limited case reports |
| Muscular dystrophy | Potential involvement in muscle fiber stability; evidence from animal models | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 32.5 | High |
| Heart | 28.1 | High |
| Esophagus | 2.3 | Low |
| Thyroid | 1.1 | Low |
| Adipose tissue | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 15.2 | Differentiated cells show higher expression |
| Cardiomyocytes (iPS-derived) | 22.8 | High expression in mature cardiomyocytes |
| HeLa | 0.3 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; predicted to cause truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function; associated with dilated cardiomyopathy in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function by truncating the myomesin 3 protein, impairing M-band assembly.
Gain of Function (GOF)
No gain-of-function mutations reported for MYOM3.
Dominant Negative (DN)
No dominant-negative mutations reported for MYOM3.
View complete mutation data：
Gene Ontology (GO)
| • muscle myosin complex (GO:0005859) | • striated muscle thin filament (GO:0005863) |
| • Z disc (GO:0030018) | • M band (GO:0031430) |
| • protein binding (GO:0005515) | • muscle contraction (GO:0006936) |
Pathways
• Striated muscle contraction (Reactome: R-HSA-390522)
• Sarcomere organization (Reactome: R-HSA-525091)
Protein Summary
Myomesin 3 is a 160 kDa protein localized to the M-band of sarcomeres in striated muscle. It contains immunoglobulin-like and fibronectin type III domains that mediate homophilic and heterophilic interactions with other M-band components. The protein is essential for maintaining the structural integrity of the sarcomere during repeated cycles of contraction and relaxation. Alternative splicing generates multiple isoforms with tissue-specific expression patterns.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYOM3 Knockout HEK293 Cell Line | EDJ-KQ9029 | Human | 127294 | Details Get a Quote |
| MYOM3 Knockout A-549 Cell Line | EDJ-KQ35471 | Human | 127294 | Details Get a Quote |
| MYOM3 Knockout HCT 116 Cell Line | EDJ-KQ35472 | Human | 127294 | Details Get a Quote |
| MYOM3 Knockout HeLa Cell Line | EDJ-KQ35473 | Human | 127294 | Details Get a Quote |
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