MYL6B
Myosin Light Chain 6B: A Regulatory Component of Non-Muscle Myosin
Gene Information Card
| Symbol | MYL6B |
|---|---|
| Full Name | Myosin Light Chain 6B |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 140465 ncbi.nlm.nih.gov/gene/140465 |
| Ensembl ID | ENSG00000196465 |
| UniProt ID | Q14651 |
| OMIM ID | 609905 |
| HGNC ID | 29823 |
| Aliases | MLC1SA, MLC-1SA, MYL6B, MLC6B |
Description
MYL6B encodes a myosin light chain that is part of the non-muscle myosin complex. It regulates actin-based cell motility and contractility, and is expressed in various tissues with roles in cytoskeletal dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered MYL6B expression may affect cell migration and invasion via myosin regulation. | COSMIC; literature |
| Hearing loss | MYL6B variants have been associated with autosomal dominant nonsyndromic hearing loss. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Esophagus | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| A549 | 12.8 | Lung cancer cell line |
| MCF7 | 10.1 | Breast cancer cell line |
| HEK293 | 9.4 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53Cys) | Missense | <0.01% | Reported in hearing loss; functional impact unknown |
| c.238G>A (p.Glu80Lys) | Missense | <0.01% | COSMIC; somatic in cancer |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential impact on myosin complex stability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Possible in hearing loss variants affecting myosin assembly.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • calcium ion binding |
| • myosin complex | • cytoskeleton |
| • cell motility |
Pathways
• Non-muscle myosin II regulation
• Actin cytoskeleton signaling
Protein Summary
MYL6B is a regulatory light chain of non-muscle myosin II. It binds calcium and modulates myosin ATPase activity, influencing cell shape, adhesion, and migration. The protein is widely expressed and implicated in cancer progression and hearing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYL6B Knockout HEK293 Cell Line | EDJ-KQ9767 | Human | 140465 | Details Get a Quote |
| MYL6B Knockout A-549 Cell Line | EDJ-KQ36604 | Human | 140465 | Details Get a Quote |
| MYL6B Knockout HCT 116 Cell Line | EDJ-KQ36605 | Human | 140465 | Details Get a Quote |
| MYL6B Knockout HeLa Cell Line | EDJ-KQ36606 | Human | 140465 | Details Get a Quote |
