MYL12A Gene (Myosin Light Chain 12A)
Regulatory light chain of myosin II involved in cytoskeletal dynamics and cell motility
Gene Information Card
| Symbol | MYL12A |
|---|---|
| Full Name | Myosin Light Chain 12A |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.31 |
| NCBI Gene ID | 10627 ncbi.nlm.nih.gov/gene/10627 |
| Ensembl ID | ENSG00000101608 |
| UniProt ID | P19105 |
| OMIM ID | 160781 |
| HGNC ID | 7583 |
| Aliases | MLC-2A, MRLC2, MYL2A, MLC2A |
Description
MYL12A encodes a regulatory light chain of myosin II, a hexameric motor protein composed of two heavy chains, two essential light chains, and two regulatory light chains. Phosphorylation of MYL12A by myosin light chain kinase (MLCK) activates the actin-activated ATPase activity of myosin II, regulating smooth muscle contraction, cytokinesis, cell migration, and cytoskeletal organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered MYL12A expression/phosphorylation affects cell motility and invasion | COSMIC; literature |
| Cardiovascular disease | Dysregulation of myosin light chain phosphorylation contributes to vascular smooth muscle dysfunction | OMIM; literature |
| Developmental disorders | Rare variants may impact cytokinesis and tissue morphogenesis | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 58.2 | High |
| Skeletal muscle | 45.1 | High |
| Brain | 22.3 | Medium |
| Liver | 15.8 | Medium |
| Lung | 12.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 62.5 | High expression |
| A549 | 48.3 | High expression |
| HEK293 | 35.7 | Medium expression |
| K562 | 28.1 | Medium 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% | Unknown functional impact |
| c.456G>A (p.Val152Met) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • calcium ion binding |
| • myosin complex | • ATP-dependent activity |
| • cytoskeleton | • cell migration |
Pathways
• Smooth muscle contraction (Reactome)
• Myosin II regulation (KEGG)
Protein Summary
MYL12A (myosin regulatory light chain 12A) is a 172-amino-acid protein that binds calcium and regulates myosin II ATPase activity upon phosphorylation. It is essential for muscle contraction, cytokinesis, and cell motility. The protein is widely expressed, with highest levels in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYL12A Knockout HEK293 Cell Line | EDJ-KQ7114 | Human | 10627 | Details Get a Quote |
| MYL12A Knockout A-549 Cell Line | EDJ-KQ31983 | Human | 10627 | Details Get a Quote |
| MYL12A Knockout HeLa Cell Line | EDJ-KQ31985 | Human | 10627 | Details Get a Quote |
| MYL12A Knockout HCT 116 Cell Line | EDJ-KQ30604 | Human | 10627 | Details Get a Quote |
| Myl12a Knockout RAW 264.7 Cell Line | EDJ-KZ355 | Mouse | 67268 | Details Get a Quote |
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