MYOF Gene - Myoferlin
Comprehensive genomic and proteomic analysis of MYOF, a ferlin family member involved in membrane fusion, repair, and cancer biology.
Gene Information Card
| Symbol | MYOF |
|---|---|
| Full Name | Myoferlin |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.1 |
| NCBI Gene ID | 26509 ncbi.nlm.nih.gov/gene/26509 |
| Ensembl ID | ENSG00000138119 |
| UniProt ID | Q9NZM1 |
| OMIM ID | 604603 |
| HGNC ID | 7596 |
| Aliases | FER1L3, KIAA1207, FLJ13052 |
Description
MYOF (myoferlin) encodes a member of the ferlin family of proteins, characterized by multiple C2 domains and a C-terminal transmembrane domain. Myoferlin is involved in calcium-dependent membrane fusion events, including myoblast fusion, muscle regeneration, and vesicle trafficking. It also plays roles in endocytosis, cell adhesion, and angiogenesis. Aberrant expression and mutations in MYOF have been linked to muscular dystrophy, cancer progression, and impaired wound healing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscular dystrophy (limb-girdle type 2A-like) | Impaired myoblast fusion due to MYOF deficiency leads to defective muscle regeneration. | OMIM #604603; ClinVar |
| Breast cancer | MYOF overexpression promotes invasion, metastasis, and resistance to therapy via enhanced EGFR signaling and membrane repair. | COSMIC; PubMed studies |
| Pancreatic cancer | MYOF upregulation correlates with poor prognosis and facilitates tumor cell migration and invasion. | COSMIC; PubMed studies |
| Lung cancer | MYOF expression is associated with epithelial-mesenchymal transition (EMT) and metastatic potential. | COSMIC; PubMed studies |
| Cardiomyopathy | MYOF mutations may impair cardiac membrane repair, contributing to dilated cardiomyopathy. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | High |
| Heart | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Breast | 4.2 | Low |
| Pancreas | 3.8 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 7.8 | High expression |
| MCF7 (breast cancer) | 6.5 | Moderate expression |
| PANC-1 (pancreatic cancer) | 5.9 | Moderate expression |
| HepG2 (liver cancer) | 2.3 | Low expression |
| C2C12 (myoblast) | 11.2 | Very high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.2567_2568del (p.Leu856fs) | Frameshift | <0.01% | Loss of function; associated with muscular dystrophy |
| c.3456G>A (p.Glu1152Lys) | Missense | <0.01% | Uncertain significance |
| c.4567C>G (p.Pro1523Ala) | Missense | <0.01% | Benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in MYOF lead to truncated protein, impairing membrane fusion and muscle regeneration, associated with muscular dystrophy.
Gain of Function (GOF)
Overexpression of wild-type MYOF in cancers (e.g., breast, lung) enhances oncogenic signaling; no activating mutations reported.
Dominant Negative (DN)
Not established for MYOF; most pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Membrane fusion and vesicle trafficking (Reactome: R-HSA-421837)
• Myogenesis (WikiPathways: WP236)
• EGFR signaling in cancer (KEGG: hsa05200)
• Endocytosis (KEGG: hsa04144)
Protein Summary
Myoferlin is a 230 kDa multi-C2 domain protein anchored to the plasma membrane via a C-terminal transmembrane domain. It mediates calcium-dependent membrane fusion, endocytosis, and repair. In muscle, myoferlin is essential for myoblast fusion and regeneration. In cancer, it promotes invasion, metastasis, and therapy resistance by stabilizing growth factor receptors and enhancing membrane dynamics. Its expression is highest in skeletal muscle and heart, with moderate levels in lung and breast tissue.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYOF Knockout HEK293 Cell Line | EDJ-KQ8534 | Human | 26509 | Details Get a Quote |
| MYOF Knockout HeLa Cell Line | EDJ-KQ33368 | Human | 26509 | Details Get a Quote |
| MYOF Knockout A-549 Cell Line | EDJ-KQ34672 | Human | 26509 | Details Get a Quote |
| MYOF Knockout HCT 116 Cell Line | EDJ-KQ34673 | Human | 26509 | Details Get a Quote |
