MYH9 Gene - Myosin Heavy Chain 9
Essential regulator of cytoskeletal dynamics, linked to inherited platelet disorders and kidney disease
Gene Information Card
| Symbol | MYH9 |
|---|---|
| Full Name | Myosin Heavy Chain 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 4627 ncbi.nlm.nih.gov/gene/4627 |
| Ensembl ID | ENSG00000100345 |
| UniProt ID | P35579 |
| OMIM ID | 160775 |
| HGNC ID | 7579 |
| Aliases | NMMHC-IIA, MHA, NMHC-IIA, DFNA17, FTNS, MYH9A |
Description
MYH9 encodes the heavy chain of non-muscle myosin IIA, a motor protein that interacts with actin to generate contractile force. It is essential for cell motility, cytokinesis, and maintenance of cell shape. Mutations in MYH9 cause autosomal dominant MYH9-related disease, characterized by macrothrombocytopenia, sensorineural hearing loss, cataracts, and glomerulonephritis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| MYH9-related disease (May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, Epstein syndrome) | Dominant-negative or loss-of-function mutations impair myosin IIA filament assembly, leading to defective platelet formation, hearing loss, and kidney dysfunction | ClinVar, OMIM |
| Deafness, autosomal dominant 17 | Missense mutations in the motor domain disrupt cochlear hair cell function | OMIM #603622 |
| Glomerulosclerosis, focal segmental, 6 | MYH9 variants increase susceptibility to kidney fibrosis in African populations | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 7.1 | Medium |
| Spleen | 6.9 | Medium |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| K562 | 12.8 | High expression |
| HeLa | 9.5 | Medium expression |
| HepG2 | 7.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2104C>T (p.Arg702Cys) | Missense | Common | Dominant-negative; disrupts ATPase activity |
| c.287C>T (p.Ser96Leu) | Missense | Rare | Gain-of-function; increased motor activity |
| c.5773delG (p.Glu1925Lysfs*2) | Frameshift | Rare | Loss-of-function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations produce truncated myosin IIA, reducing contractile force in platelets and podocytes.
Gain of Function (GOF)
Rare missense mutations (e.g., Ser96Leu) enhance ATPase activity, leading to abnormal cytoskeletal tension.
Dominant Negative (DN)
Most common mechanism; mutant monomers incorporate into filaments and poison wild-type function, causing macrothrombocytopenia.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • calmodulin binding | • microfilament motor activity |
| • cytokinesis | • cell migration |
Pathways
• Actin cytoskeleton regulation
• Platelet activation and aggregation
• Focal adhesion
Protein Summary
Non-muscle myosin IIA is a hexameric protein composed of two heavy chains (MYH9), two regulatory light chains, and two essential light chains. It functions as an actin-based molecular motor, generating force for cell division, migration, and adhesion. In platelets, it is critical for proplatelet formation and thrombopoiesis. In the kidney, it maintains podocyte structure and glomerular filtration barrier integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYH9 Knockout HEK293 Cell Line | EDJ-KQ3351 | Human | 4627 | Details Get a Quote |
| MYH9 Knockout HeLa Cell Line | EDJ-KQ25008 | Human | 4627 | Details Get a Quote |
| MYH9 Knockout HCT 116 Cell Line | EDJ-KQ23617 | Human | 4627 | Details Get a Quote |
| MYH9 Knockout A-549 Cell Line | EDJ-KQ62436 | Human | 4627 | Details Get a Quote |
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