MYO15A
Myosin XVA, a gene essential for inner ear hair cell stereocilia development and associated with autosomal recessive deafness
Gene Information Card
| Symbol | MYO15A |
|---|---|
| Full Name | myosin XVA |
| Gene Type | protein coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 51168 ncbi.nlm.nih.gov/gene/51168 |
| Ensembl ID | ENSG00000141506 |
| UniProt ID | Q9UKN7 |
| OMIM ID | 602666 |
| HGNC ID | 7594 |
| Aliases | DFNB3, MYO15, DFNA3B |
Description
MYO15A encodes myosin XVA, an unconventional myosin motor protein essential for the development and maintenance of stereocilia in inner ear hair cells. It is involved in actin-based transport within hair cell stereocilia, and mutations in this gene are a major cause of autosomal recessive nonsyndromic hearing loss (DFNB3). The protein contains a motor domain, IQ motifs, and a tail domain that interacts with whirlin and other stereocilia proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic deafness 3 (DFNB3) | Loss-of-function mutations disrupt stereocilia elongation, leading to hair cell dysfunction | ClinVar, OMIM |
| Nonsyndromic hearing loss | Missense and nonsense variants impair myosin XVA motor activity or protein interactions | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | High | Tissue-specific |
| Testis | Low | GTEx |
| Brain | Low | GTEx |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not expressed | No detectable nTPM |
| Hair cell lines | High | Model systems |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.6370C>T (p.Arg2124*) | Nonsense | Rare | Loss of function, truncation |
| c.1184G>A (p.Arg395His) | Missense | Rare | Impaired motor activity |
| c.1024C>T (p.Arg342Trp) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that lead to truncated or absent myosin XVA protein, causing DFNB3 deafness.
Gain of Function (GOF)
Not reported for MYO15A.
Dominant Negative (DN)
Not reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • microtubule motor activity | • calmodulin binding |
| • actin filament-based movement | • inner ear morphogenesis |
| • sensory perception of sound |
Pathways
• Stereocilia development
• Myosin-mediated transport in hair cells
Protein Summary
Myosin XVA is a 365 kDa unconventional myosin motor protein with an N-terminal motor domain, IQ motifs for calmodulin binding, and a C-terminal tail that interacts with whirlin and other stereocilia tip complex proteins. It localizes to the tips of stereocilia and is essential for their elongation and maintenance. Without functional myosin XVA, stereocilia are short and disorganized, leading to profound hearing loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYO15A Knockout HEK293 Cell Line | EDJ-KQ10959 | Human | 51168 | Details Get a Quote |
| MYO15A Knockout HeLa Cell Line | EDJ-KQ56240 | Human | 51168 | Details Get a Quote |
| MYO15A Knockout A-549 Cell Line | EDJ-KQ64730 | Human | 51168 | Details Get a Quote |
| MYO15A Knockout HCT 116 Cell Line | EDJ-KQ73175 | Human | 51168 | Details Get a Quote |
