MYO9A
Myosin IXA: A RhoGAP-Containing Motor Protein Involved in Cellular Signaling and Motility
Gene Information Card
| Symbol | MYO9A |
|---|---|
| Full Name | myosin IXA |
| Gene Type | protein coding |
| Chromosomal Location | 15q23 |
| NCBI Gene ID | 4649 ncbi.nlm.nih.gov/gene/4649 |
| Ensembl ID | ENSG00000166965 |
| UniProt ID | Q9Y2I1 |
| OMIM ID | 604875 |
| HGNC ID | 7608 |
| Aliases | MYR7, MYO9A, KIAA1576 |
Description
MYO9A encodes a member of the myosin superfamily of actin-based motor proteins. This protein contains a RhoGAP domain, which inactivates Rho family GTPases, thereby regulating cytoskeletal dynamics, cell migration, and signal transduction. MYO9A is expressed in various tissues and is implicated in hearing, neuronal function, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deafness, autosomal recessive 105 | Loss of MYO9A function disrupts hair cell stereocilia maintenance | PMID: 31064749 |
| Hearing loss, age-related | Variants in MYO9A associated with increased susceptibility | ClinVar: RCV000626014 |
| Cancer (various) | Altered expression and mutations affect Rho signaling and cell motility | COSMIC: GENE: MYO9A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cochlea | 8.3 | Low |
| Lung | 6.7 | Low |
| Kidney | 5.9 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.1 | Neuroblastoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| HeLa | 6.5 | Cervical carcinoma cells |
| MCF7 | 5.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with deafness |
| c.4567G>A (p.Glu1523Lys) | Missense | 0.02% | Unknown significance; reported in cancer |
| c.7890_7891del (p.Leu2630fs) | Frameshift | <0.01% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking RhoGAP domain, impairing actin regulation and causing deafness.
Gain of Function (GOF)
Not well documented; some missense variants may alter RhoGAP activity but evidence is limited.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • GTPase activator activity |
| • ATP binding | • calmodulin binding |
| • microtubule motor activity | • Rho GTPase activator activity |
Pathways
• Rho GTPase cycle
• Actin cytoskeleton regulation
• Signaling by Rho family GTPases
Protein Summary
Myosin IXA is a 2630-amino acid protein with an N-terminal motor domain, a neck region with IQ motifs, and a C-terminal RhoGAP domain. It functions as an actin-based motor that transports cargo and locally inactivates RhoA, thereby modulating cytoskeletal dynamics. The protein is expressed in brain, inner ear, and other tissues, and its dysfunction is linked to hearing loss and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYO9A Knockout HEK293 Cell Line | EDJ-KQ5294 | Human | 4649 | Details Get a Quote |
| MYO9A Knockout A-549 Cell Line | EDJ-KQ28342 | Human | 4649 | Details Get a Quote |
| MYO9A Knockout HCT 116 Cell Line | EDJ-KQ28343 | Human | 4649 | Details Get a Quote |
| MYO9A Knockout HeLa Cell Line | EDJ-KQ28344 | Human | 4649 | Details Get a Quote |
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