MYO18A
Myosin XVIIIA: A Non-Conventional Myosin Involved in Cell Motility and Cancer
Gene Information Card
| Symbol | MYO18A |
|---|---|
| Full Name | myosin XVIIIA |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 399687 ncbi.nlm.nih.gov/gene/399687 |
| Ensembl ID | ENSG00000196535 |
| UniProt ID | Q92614 |
| OMIM ID | 610067 |
| HGNC ID | 31104 |
| Aliases | KIAA0216, MYO18Aalpha, MYO18Abeta |
Description
MYO18A encodes a member of the non-conventional myosin superfamily. This protein is involved in cytoskeletal organization, cell migration, and intracellular transport. It is characterized by an N-terminal PDZ domain and a myosin head domain, and it plays roles in maintaining cell structure and polarity. MYO18A is implicated in cancer progression and immune cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect cell motility and invasion, contributing to tumor progression. | COSMIC, ClinVar |
| Immunodeficiency | Mutations in MYO18A are associated with defects in natural killer cell function and immune surveillance. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Testis | 8.9 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| A549 | 14.1 | Lung cancer cell line |
| K562 | 11.7 | Leukemia cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Arg412Cys; potential loss of function |
| c.5678_5680del | In-frame deletion | 0.01% | p.Glu1893del; altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the motor domain or PDZ domain may impair cytoskeletal dynamics and cell migration.
Gain of Function (GOF)
Not well characterized; some variants may enhance motility in cancer cells.
Dominant Negative (DN)
Truncating mutations in the coiled-coil region could interfere with dimerization and normal myosin function.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • microtubule motor activity | • cytoskeleton |
| • cell migration |
Pathways
• Regulation of actin cytoskeleton
• Focal adhesion
• Cell motility
Protein Summary
MYO18A is a non-conventional myosin that contains an N-terminal PDZ domain, a myosin motor domain, and a coiled-coil tail. It localizes to actin filaments and the Golgi apparatus, and it is involved in cell adhesion, migration, and vesicle transport. The protein is expressed in multiple tissues and is upregulated in certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYO18A Knockout HEK293 Cell Line | EDJ-KQ3703 | Human | 399687 | Details Get a Quote |
| MYO18A Knockout HCT 116 Cell Line | EDJ-KQ25721 | Human | 399687 | Details Get a Quote |
| MYO18A Knockout HeLa Cell Line | EDJ-KQ78047 | Human | 399687 | Details Get a Quote |
| MYO18A Knockout A-549 Cell Line | EDJ-KQ78048 | Human | 399687 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
