MYL2: Myosin Light Chain 2, Regulatory, Cardiac Slow
A key sarcomeric protein implicated in hypertrophic cardiomyopathy and other cardiac disorders
Gene Information Card
| Symbol | MYL2 |
|---|---|
| Full Name | Myosin Light Chain 2, Regulatory, Cardiac Slow |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.11 |
| NCBI Gene ID | 4633 ncbi.nlm.nih.gov/gene/4633 |
| Ensembl ID | ENSG00000111245 |
| UniProt ID | P10916 |
| OMIM ID | 160781 |
| HGNC ID | 7583 |
| Aliases | CMH10, MLC-2, MLC2, MLC2v, MYL2A |
Description
MYL2 encodes the regulatory light chain of cardiac myosin, a component of the sarcomere essential for cardiac muscle contraction. Mutations in MYL2 are a known cause of hypertrophic cardiomyopathy (HCM) and can also contribute to dilated cardiomyopathy and left ventricular noncompaction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic Cardiomyopathy (HCM) | Altered myosin regulatory light chain disrupts sarcomere function, leading to myocyte hypertrophy and disarray | ClinVar, OMIM |
| Dilated Cardiomyopathy (DCM) | Impaired contractility due to MYL2 variants affecting actin-myosin interaction | ClinVar |
| Left Ventricular Noncompaction | Developmental defect in myocardial compaction associated with MYL2 mutations | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 124.7 | High |
| Skeletal Muscle | 2.1 | Low |
| Liver | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 150.2 | High expression |
| Skeletal muscle myoblasts | 1.8 | Low expression |
| HeLa | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.403G>A (p.Glu135Lys) | Missense | 0.01% in general population | Associated with HCM; altered calcium sensitivity |
| c.64G>A (p.Glu22Lys) | Missense | <0.01% | Pathogenic; disrupts phosphorylation site |
| c.170C>T (p.Pro57Leu) | Missense | <0.01% | Likely pathogenic; reduced stability |
Mutation functional classification
Loss of Function (LOF)
Rare; some truncating variants lead to haploinsufficiency and DCM
Gain of Function (GOF)
Not well documented; some missense variants increase calcium sensitivity
Dominant Negative (DN)
Common in HCM; mutant protein incorporates into sarcomere and disrupts wild-type function
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • calmodulin binding (GO:0005516) |
| • muscle contraction (GO:0006936) | • structural constituent of muscle (GO:0008307) |
| • myosin filament (GO:0032982) |
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Hypertrophic cardiomyopathy (KEGG: hsa05410)
• Dilated cardiomyopathy (KEGG: hsa05414)
Protein Summary
MYL2 encodes the 166-amino-acid regulatory light chain of cardiac myosin (MLC-2v). This protein binds calcium via EF-hand motifs and modulates myosin ATPase activity. Phosphorylation at Ser15 by myosin light chain kinase regulates cardiac contractility. Mutations in MYL2 are a well-established cause of hypertrophic cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYL2 Knockout HEK293 Cell Line | EDJ-KQ1438 | Human | 4633 | Details Get a Quote |
| MYL2 Knockout HCT 116 Cell Line | EDJ-KQ20984 | Human | 4633 | Details Get a Quote |
| MYL2 Knockout HeLa Cell Line | EDJ-KQ53946 | Human | 4633 | Details Get a Quote |
| MYL2 Knockout A-549 Cell Line | EDJ-KQ62439 | Human | 4633 | Details Get a Quote |
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