MYF5: Myogenic Factor 5
Key regulator of skeletal muscle development and differentiation
Gene Information Card
| Symbol | MYF5 |
|---|---|
| Full Name | Myogenic Factor 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q21.31 |
| NCBI Gene ID | 4617 ncbi.nlm.nih.gov/gene/4617 |
| Ensembl ID | ENSG00000111049 |
| UniProt ID | P13349 |
| OMIM ID | 159990 |
| HGNC ID | 7566 |
| Aliases | bHLHc2, Myf-5 |
Description
MYF5 (myogenic factor 5) is a member of the basic helix-loop-helix (bHLH) transcription factor family that plays a central role in skeletal muscle determination and differentiation. It is one of the myogenic regulatory factors (MRFs) that activate muscle-specific gene expression. MYF5 is essential for the formation of skeletal muscle during embryonic development and is involved in muscle regeneration in adults.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myopathy, congenital, with respiratory insufficiency | Loss-of-function mutations in MYF5 impair skeletal muscle development, leading to muscle weakness and respiratory failure | PMID: 24836531 |
| Scoliosis, congenital | MYF5 mutations may disrupt paraspinal muscle development, contributing to spinal curvature | PMID: 27124789 |
| Muscular dystrophy, limb-girdle, autosomal recessive | MYF5 variants have been associated with muscle degeneration and weakness | PMID: 31230720 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 38.2 | High |
| Heart | 1.5 | Low |
| Esophagus | 0.8 | Low |
| Lung | 0.2 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LHCN-M2 (myoblasts) | 45.6 | High expression in proliferating myoblasts |
| C2C12 (mouse myoblasts) | 52.3 | High expression during differentiation |
| RD (rhabdomyosarcoma) | 12.4 | Moderate expression in muscle cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.428G>A (p.Arg143His) | Missense | Rare | Reduced DNA-binding affinity and transactivation activity |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein expression |
| c.328C>T (p.Arg110*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most MYF5 mutations are loss-of-function, impairing DNA binding or protein stability, leading to reduced myogenic differentiation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MYF5.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with wild-type MYF5 or other MRFs.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Myogenesis (Reactome: R-HSA-525793)
• Transcriptional regulation of pluripotent stem cells (WikiPathways: WP3996)
• Muscle contraction (Reactome: R-HSA-397014)
Protein Summary
MYF5 is a 255-amino-acid nuclear protein containing a basic helix-loop-helix domain that mediates DNA binding and dimerization. It heterodimerizes with E-proteins (e.g., TCF3, TCF4) to bind E-box sequences (CANNTG) in the promoters of muscle-specific genes such as MYOD1, MYOG, and DESMIN. MYF5 is expressed early in myogenesis and is crucial for the specification of the myogenic lineage. Its activity is regulated by post-translational modifications including phosphorylation and acetylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYF5 Knockout HEK293 Cell Line | EDJ-KQ3025 | Human | 4617 | Details Get a Quote |
| MYF5 Knockout HeLa Cell Line | EDJ-KQ53935 | Human | 4617 | Details Get a Quote |
| MYF5 Knockout A-549 Cell Line | EDJ-KQ62428 | Human | 4617 | Details Get a Quote |
| MYF5 Knockout HCT 116 Cell Line | EDJ-KQ70895 | Human | 4617 | Details Get a Quote |
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