MYH11 Gene (Myosin Heavy Chain 11)
Smooth Muscle Myosin Heavy Chain Gene: Role in Aortic Aneurysm, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, and Cancer
Gene Information Card
| Symbol | MYH11 |
|---|---|
| Full Name | myosin heavy chain 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.11 |
| NCBI Gene ID | 4629 ncbi.nlm.nih.gov/gene/4629 |
| Ensembl ID | ENSG00000133392 |
| UniProt ID | P35749 |
| OMIM ID | 160745 |
| HGNC ID | 7569 |
| Aliases | SMHC, SMMHC, MGC126516, MGC126517 |
Description
MYH11 encodes the smooth muscle myosin heavy chain, a major contractile protein in smooth muscle cells. It forms the thick filament of the sarcomere and is essential for smooth muscle contraction in blood vessels, gastrointestinal tract, and genitourinary system. Mutations in MYH11 are associated with familial thoracic aortic aneurysm and dissection (TAAD) and megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). The gene is also implicated in certain cancers through altered expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial Thoracic Aortic Aneurysm and Dissection (TAAD) | Dominant-negative or loss-of-function mutations impair smooth muscle contractility, leading to aortic wall weakness and aneurysm formation. | ClinVar, OMIM #132900 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS) | Biallelic loss-of-function mutations disrupt smooth muscle function in bladder and intestine, causing severe dilation and hypoperistalsis. | OMIM #249210, ClinVar |
| Coronary Artery Disease (CAD) | Rare MYH11 variants may contribute to arterial stiffness and atherosclerosis risk. | NCBI Gene, literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth Muscle (Aorta) | 78.5 | High |
| Smooth Muscle (Uterus) | 65.2 | High |
| Smooth Muscle (Bladder) | 55.8 | High |
| Smooth Muscle (Stomach) | 50.1 | High |
| Heart | 2.3 | Low |
| Skeletal Muscle | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic Smooth Muscle Cells (HASMC) | 85.0 | Primary cell line, high expression |
| Uterine Smooth Muscle Cells (UtSMC) | 70.3 | Primary cell line |
| Bladder Smooth Muscle Cells (BdSMC) | 60.5 | Primary cell line |
| HEK293 | 0.5 | Non-smooth muscle, very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.5270G>A (p.Arg1757Gln) | Missense | Rare | Dominant-negative; associated with TAAD |
| c.5797C>T (p.Arg1933*) | Nonsense | Rare | Loss-of-function; associated with MMIHS |
| c.3817_3818del (p.Leu1273fs) | Frameshift | Rare | Loss-of-function; associated with MMIHS |
| c.1498G>A (p.Glu500Lys) | Missense | Rare | Dominant-negative; associated with TAAD |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift) cause MMIHS by abolishing smooth muscle myosin function.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Heterozygous missense mutations (e.g., p.Arg1757Gln) act as dominant-negative, disrupting filament assembly and causing TAAD.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Smooth Muscle Contraction (Reactome: R-HSA-445355)
• Cardiac conduction (Reactome: R-HSA-5576891)
• Developmental Biology (Reactome: R-HSA-1266738)
Protein Summary
MYH11 encodes the smooth muscle myosin heavy chain (SMHC), a 1972-amino acid protein that forms homodimers and assembles into thick filaments. It contains an N-terminal motor domain with ATPase activity, a neck region with IQ motifs for calmodulin/light chain binding, and a C-terminal tail domain for filament assembly. The protein is essential for smooth muscle contraction and is highly expressed in vascular, gastrointestinal, and genitourinary smooth muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYH11 Knockout HEK293 Cell Line | EDJ-KQ5284 | Human | 4629 | Details Get a Quote |
| MYH11 Knockout HeLa Cell Line | EDJ-KQ53944 | Human | 4629 | Details Get a Quote |
| MYH11 Knockout A-549 Cell Line | EDJ-KQ62437 | Human | 4629 | Details Get a Quote |
| MYH11 Knockout HCT 116 Cell Line | EDJ-KQ70903 | Human | 4629 | Details Get a Quote |
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