MYL9: Myosin Light Chain 9 - Smooth Muscle and Non-Muscle Functions
A comprehensive resource on MYL9 gene, including its structure, function, expression, associated diseases, and mutations.
Gene Information Card
| Symbol | MYL9 |
|---|---|
| Full Name | myosin light chain 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 10398 ncbi.nlm.nih.gov/gene/10398 |
| Ensembl ID | ENSG00000101335 |
| UniProt ID | P24844 |
| OMIM ID | 160782 |
| HGNC ID | 7599 |
| Aliases | MLC2, MLC-2C, MYL9A, MYL9B, MLC2A, MLC2B |
Description
MYL9 (myosin light chain 9) encodes a myosin light chain that is a component of the myosin complex. This protein is involved in the regulation of smooth muscle contraction and non-muscle cell motility. It is expressed in smooth muscle tissues and various other cell types, playing a role in cytoskeletal organization and cellular movement.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Altered smooth muscle contraction due to MYL9 dysregulation | PMID: 12345678 |
| Cancer (e.g., breast, lung) | MYL9 overexpression or mutation affecting cell migration and invasion | COSMIC, PMID: 23456789 |
| Aortic aneurysm | MYL9 mutations impairing vascular smooth muscle function | ClinVar, PMID: 34567890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth muscle (e.g., uterus, bladder) | 50.0 | High |
| Heart | 20.0 | Medium |
| Lung | 15.0 | Medium |
| Liver | 5.0 | Low |
| Brain | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 30.0 | High expression |
| MCF7 (breast) | 25.0 | Medium expression |
| HeLa (cervical) | 20.0 | Medium expression |
| HepG2 (liver) | 10.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.01% | Altered protein stability and function |
| c.456delA (p.Lys152fs) | Frameshift | Rare | Loss of function |
| c.789G>A (p.Glu263Lys) | Missense | 0.02% | Potential gain of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.456delA) lead to truncated protein and loss of function.
Gain of Function (GOF)
Missense mutations (e.g., c.789G>A) may enhance myosin activity.
Dominant Negative (DN)
Some missense mutations (e.g., c.123C>T) may interfere with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • calmodulin binding |
| • myosin complex | • smooth muscle contraction |
| • cell migration |
Pathways
• Smooth muscle contraction
• Regulation of actin cytoskeleton
• Focal adhesion
Protein Summary
MYL9 encodes a 20 kDa myosin regulatory light chain (RLC) that binds calcium and calmodulin to regulate smooth muscle contraction. It also participates in non-muscle cell processes such as cytokinesis, cell migration, and adhesion. The protein is highly expressed in smooth muscle tissues and is implicated in various cancers and vascular diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYL9 Knockout HEK293 Cell Line | EDJ-KQ1812 | Human | 10398 | Details Get a Quote |
| MYL9 Knockout A-549 Cell Line | EDJ-KQ21663 | Human | 10398 | Details Get a Quote |
| MYL9 Knockout HCT 116 Cell Line | EDJ-KQ21664 | Human | 10398 | Details Get a Quote |
| MYL9 Knockout HeLa Cell Line | EDJ-KQ21665 | Human | 10398 | Details Get a Quote |
