MYL12B
Myosin Light Chain 12B
Gene Information Card
| Symbol | MYL12B |
|---|---|
| Full Name | Myosin Light Chain 12B |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.31 |
| NCBI Gene ID | 103910 ncbi.nlm.nih.gov/gene/103910 |
| Ensembl ID | ENSG00000141456 |
| UniProt ID | O14950 |
| OMIM ID | 609211 |
| HGNC ID | 29825 |
| Aliases | MRLC2, MLC-2B, MLC20 |
Description
MYL12B encodes a regulatory light chain of myosin II, a component of the actomyosin contractile apparatus. It is involved in smooth muscle contraction, cell migration, and cytokinesis through phosphorylation by myosin light chain kinase.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered MYL12B expression affects cell motility and invasion | PubMed, COSMIC |
| Cardiovascular disease | Dysregulation of myosin light chain phosphorylation impacts vascular tone | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 25.6 | High |
| Skeletal Muscle | 20.3 | High |
| Smooth Muscle | 18.7 | High |
| Brain | 8.4 | Medium |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.1 | High expression |
| A549 | 18.5 | High expression |
| HEK293 | 15.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | <0.1% | Unknown functional impact |
| c.456G>A | Synonymous | <0.1% | No effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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 | • calmodulin binding |
| • myosin II complex | • ATPase activity |
| • cytoskeleton |
Pathways
• Smooth muscle contraction
• Regulation of actin cytoskeleton
• Cardiac muscle contraction
Protein Summary
MYL12B encodes a 172-amino acid protein (19.7 kDa) that binds calcium-calmodulin and is phosphorylated at Ser19 by myosin light chain kinase, regulating actomyosin ATPase activity and contractility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYL12B Knockout HEK293 Cell Line | EDJ-KQ5466 | Human | 103910 | Details Get a Quote |
| MYL12B Knockout A-549 Cell Line | EDJ-KQ28666 | Human | 103910 | Details Get a Quote |
| MYL12B Knockout HCT 116 Cell Line | EDJ-KQ28667 | Human | 103910 | Details Get a Quote |
| MYL12B Knockout HeLa Cell Line | EDJ-KQ28668 | Human | 103910 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
