MYOCD (Myocardin)
Transcriptional coactivator essential for smooth muscle cell differentiation and cardiovascular development
Gene Information Card
| Symbol | MYOCD |
|---|---|
| Full Name | Myocardin |
| Gene Type | Protein coding |
| Chromosomal Location | 17p12 |
| NCBI Gene ID | 93649 ncbi.nlm.nih.gov/gene/93649 |
| Ensembl ID | ENSG00000141052 |
| UniProt ID | Q8IZQ8 |
| OMIM ID | 606127 |
| HGNC ID | 16067 |
| Aliases | MYCD, MGC125294, MGC125295 |
Description
MYOCD encodes myocardin, a potent transcriptional coactivator that binds serum response factor (SRF) to activate genes involved in smooth muscle cell differentiation and contractility. It plays a critical role in cardiovascular development, vascular remodeling, and smooth muscle phenotype maintenance. MYOCD is predominantly expressed in cardiac and smooth muscle tissues and is implicated in various cardiovascular and neoplastic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aortic aneurysm | Dysregulation of MYOCD expression alters smooth muscle contractile gene program, weakening aortic wall | PMID: 22961935 |
| Coronary artery disease | MYOCD variants associated with altered smooth muscle cell proliferation and vascular remodeling | PMID: 23505224 |
| Prostate cancer | MYOCD acts as a tumor suppressor; loss of expression promotes epithelial-mesenchymal transition and metastasis | PMID: 23934149 |
| Gastric cancer | MYOCD downregulation correlates with poor prognosis and increased invasiveness | PMID: 25636847 |
| Bladder cancer | MYOCD hypermethylation silences expression, contributing to tumor progression | PMID: 27058445 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 58.2 | High |
| Aorta | 45.1 | High |
| Smooth muscle | 62.3 | High |
| Lung | 12.4 | Medium |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic smooth muscle cells | 72.5 | Primary cell line |
| Cardiomyocytes | 55.0 | Differentiated from iPSC |
| HEK293 | 0.3 | Low expression |
| HeLa | 0.1 | Negligible |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53Trp) | Missense | Rare | Altered SRF binding affinity |
| c.742G>A (p.Gly248Ser) | Missense | Rare | Reduced transcriptional activity |
| c.1123_1124insA (p.Thr375Asnfs*12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing SRF coactivation and smooth muscle gene expression.
Gain of Function (GOF)
Not well documented; some missense variants may enhance activity but evidence is limited.
Dominant Negative (DN)
Missense mutations in the SRF-binding domain may interfere with wild-type myocardin function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SRF-dependent transcription of smooth muscle genes
• TGF-beta signaling pathway
• Hippo signaling pathway (crosstalk with YAP/TAZ)
Protein Summary
Myocardin is a 935-amino acid nuclear protein that functions as a potent coactivator of serum response factor (SRF). It contains a basic domain, a glutamine-rich region, and a SAP domain. Myocardin binds SRF and recruits additional cofactors to activate transcription of smooth muscle-specific genes such as ACTA2, MYH11, and CNN1. It is essential for vascular smooth muscle cell differentiation and cardiac development. Post-translational modifications including phosphorylation and sumoylation regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYOCD Knockout HEK293 Cell Line | EDJ-KQ11249 | Human | 93649 | Details Get a Quote |
| MYOCD Knockout A-549 Cell Line | EDJ-KQ39346 | Human | 93649 | Details Get a Quote |
| MYOCD Knockout HeLa Cell Line | EDJ-KQ39347 | Human | 93649 | Details Get a Quote |
| MYOCD Knockout HCT 116 Cell Line | EDJ-KQ74786 | Human | 93649 | Details Get a Quote |
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