MYOG (Myogenin) Gene
Key regulator of myogenesis and skeletal muscle differentiation
Gene Information Card
| Symbol | MYOG |
|---|---|
| Full Name | Myogenin (myogenic factor 4) |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 4656 ncbi.nlm.nih.gov/gene/4656 |
| Ensembl ID | ENSG00000122180 |
| UniProt ID | P15173 |
| OMIM ID | 159980 |
| HGNC ID | 7612 |
| Aliases | MYF4, bHLHc3, myogenin |
Description
MYOG (myogenin) is a member of the myogenic basic helix-loop-helix (bHLH) transcription factor family. It plays a central role in the terminal differentiation of skeletal muscle cells by activating muscle-specific genes. MYOG is essential for normal muscle development and regeneration, and its expression is tightly regulated during myogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skeletal muscle atrophy | Reduced MYOG expression impairs muscle regeneration and maintenance | ClinVar, NCBI |
| Rhabdomyosarcoma | MYOG overexpression is a diagnostic marker for alveolar rhabdomyosarcoma | COSMIC, NCBI |
| Congenital myopathies | Mutations in MYOG disrupt myogenic differentiation | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 38.2 | High |
| Heart | 1.5 | Low |
| Brain | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RD (rhabdomyosarcoma) | 12.4 | High expression |
| C2C12 (mouse myoblast) | 8.7 | High during differentiation |
| HEK293 | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, reduced protein |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Impaired DNA binding |
| c.200delG | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish myogenin activity impair myogenic differentiation and are associated with muscle disorders.
Gain of Function (GOF)
Not commonly reported; overexpression in rhabdomyosarcoma may contribute to oncogenesis.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type myogenin function, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • skeletal muscle cell differentiation | • positive regulation of transcription by RNA polymerase II |
| • myoblast differentiation |
Pathways
• Myogenesis pathway (KEGG: hsa04550)
• Transcriptional regulation of pluripotent stem cells
• p53 signaling pathway (indirect)
Protein Summary
Myogenin is a 224-amino acid protein containing a basic helix-loop-helix domain that mediates DNA binding and dimerization. It forms heterodimers with E proteins (e.g., E12/E47) to bind E-box sequences in muscle gene promoters, activating transcription of structural and regulatory muscle proteins. Myogenin is critical for the fusion of myoblasts into myotubes and for maintaining muscle fiber identity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYOG Knockout HEK293 Cell Line | EDJ-KQ1968 | Human | 4656 | Details Get a Quote |
| MYOG Knockout HeLa Cell Line | EDJ-KQ53955 | Human | 4656 | Details Get a Quote |
| MYOG Knockout A-549 Cell Line | EDJ-KQ62446 | Human | 4656 | Details Get a Quote |
| MYOG Knockout HCT 116 Cell Line | EDJ-KQ70911 | Human | 4656 | Details Get a Quote |
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