MYO7B
Myosin VIIB: A Motor Protein Involved in Intracellular Transport and Hearing
Gene Information Card
| Symbol | MYO7B |
|---|---|
| Full Name | myosin VIIB |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 4648 ncbi.nlm.nih.gov/gene/4648 |
| Ensembl ID | ENSG00000116044 |
| UniProt ID | Q6PIF2 |
| OMIM ID | 606635 |
| HGNC ID | 7607 |
| Aliases | MYO7B, DFNA11, USH1B |
Description
MYO7B encodes myosin VIIB, an unconventional myosin motor protein that uses actin filaments as tracks for intracellular transport. It is essential for the structural integrity and function of hair cells in the inner ear, and mutations in this gene are associated with Usher syndrome type 1B and nonsyndromic hearing loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Usher syndrome type 1B | Loss of myosin VIIB disrupts hair cell stereocilia organization and mechanotransduction | OMIM: 276900 |
| Nonsyndromic hearing loss (DFNA11) | Dominant mutations impair actin-based transport in cochlear hair cells | OMIM: 601317 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | High | Tissue-specific |
| Retina | Moderate | Tissue-specific |
| Testis | Low | Ubiquitous |
| Kidney | Low | Ubiquitous |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Low | Model cell line |
| HeLa | Low | Model cell line |
| SH-SY5Y | Moderate | Neuronal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function, truncation |
| c.4567G>A (p.Glu1523Lys) | Missense | Rare | Dominant negative effect on motor activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and loss of motor activity, associated with Usher syndrome type 1B.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in the motor domain that interfere with wild-type myosin VIIB function, linked to DFNA11.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • microtubule motor activity | • calmodulin binding |
| • intracellular transport |
Pathways
• Usher syndrome
• Cochlear hair cell mechanotransduction
• Actin cytoskeleton regulation
Protein Summary
Myosin VIIB is a 2215-amino-acid protein with an N-terminal motor domain, a neck region with IQ motifs for calmodulin binding, and a C-terminal tail domain that mediates cargo binding. It functions as a dimeric actin-based motor that transports vesicles and links stereocilia in hair cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYO7B Knockout HEK293 Cell Line | EDJ-KQ5297 | Human | 4648 | Details Get a Quote |
| MYO7B Knockout HeLa Cell Line | EDJ-KQ53952 | Human | 4648 | Details Get a Quote |
| MYO7B Knockout A-549 Cell Line | EDJ-KQ62443 | Human | 4648 | Details Get a Quote |
| MYO7B Knockout HCT 116 Cell Line | EDJ-KQ70908 | Human | 4648 | Details Get a Quote |
