MYO6: Myosin VI - A Key Motor Protein in Hearing and Cancer
Comprehensive gene card for MYO6, including expression, mutations, and associated diseases
Gene Information Card
| Symbol | MYO6 |
|---|---|
| Full Name | myosin VI |
| Gene Type | protein coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 4646 ncbi.nlm.nih.gov/gene/4646 |
| Ensembl ID | ENSG00000196586 |
| UniProt ID | Q9UM54 |
| OMIM ID | 600970 |
| HGNC ID | 7605 |
| Aliases | DFNA22, DFNB37, MYH6 |
Description
MYO6 encodes myosin VI, a unique actin-based motor protein that moves toward the minus end of actin filaments. It is involved in intracellular vesicle and organelle transport, endocytosis, and cell migration. Mutations in MYO6 are associated with autosomal dominant (DFNA22) and recessive (DFNB37) hearing loss, as well as hypertrophic cardiomyopathy and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant deafness 22 (DFNA22) | Missense or nonsense mutations disrupt myosin VI function in hair cell stereocilia, leading to progressive hearing loss. | ClinVar, OMIM |
| Autosomal recessive deafness 37 (DFNB37) | Loss-of-function mutations impair actin-based transport in cochlear hair cells, causing congenital severe-to-profound hearing loss. | ClinVar, OMIM |
| Hypertrophic cardiomyopathy | MYO6 variants may alter cardiac myosin function, contributing to myocardial hypertrophy. | OMIM, NCBI |
| Cancer (e.g., breast, prostate) | Altered MYO6 expression or mutations affect cell migration and invasion, potentially promoting metastasis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.7 | High |
| Thyroid | 18.2 | Medium |
| Kidney | 15.1 | Medium |
| Lung | 12.3 | Medium |
| Liver | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.4 | Embryonic kidney cells; high expression |
| HeLa | 18.9 | Cervical cancer cells; moderate expression |
| MCF7 | 14.2 | Breast cancer cells; moderate expression |
| A549 | 11.6 | Lung cancer cells; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2485C>T (p.Arg829Ter) | Nonsense | Rare | Premature stop; loss of function; associated with DFNA22 |
| c.1327G>A (p.Glu443Lys) | Missense | Rare | Altered motor domain; dominant negative effect; hearing loss |
| c.908T>C (p.Leu303Pro) | Missense | Rare | Impaired actin binding; recessive deafness DFNB37 |
| c.1618G>A (p.Gly540Arg) | Missense | Rare | Reduced ATPase activity; hypertrophic cardiomyopathy |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg829Ter) lead to truncated protein and loss of motor activity, causing recessive deafness.
Gain of Function (GOF)
Not well documented; some missense variants may alter cargo binding but not clearly gain-of-function.
Dominant Negative (DN)
Missense mutations in the motor domain (e.g., p.Glu443Lys) can interfere with wild-type myosin VI function, causing dominant hearing loss.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • microtubule motor activity | • actin filament binding |
| • calmodulin binding | • endocytosis |
| • vesicle transport along actin filament | • auditory receptor cell stereocilium organization |
Pathways
• Endocytosis
• Vesicle-mediated transport
• Actin cytoskeleton regulation
• Auditory mechanotransduction
Protein Summary
Myosin VI is a 1285-amino-acid protein with an N-terminal motor domain, a neck region with IQ motifs for calmodulin binding, and a C-terminal tail domain for cargo interaction. It is unique among myosins for its minus-end-directed movement along actin filaments, essential for endocytosis, stereocilia maintenance, and cell migration. The protein is widely expressed, with highest levels in testis and thyroid.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYO6 Knockout HEK293 Cell Line | EDJ-KQ5303 | Human | 4646 | Details Get a Quote |
| MYO6 Knockout A-549 Cell Line | EDJ-KQ28364 | Human | 4646 | Details Get a Quote |
| MYO6 Knockout HCT 116 Cell Line | EDJ-KQ28365 | Human | 4646 | Details Get a Quote |
| MYO6 Knockout HeLa Cell Line | EDJ-KQ28366 | Human | 4646 | Details Get a Quote |
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