MYO5B
Myosin VB: A Key Regulator of Protein Trafficking and Epithelial Polarity
Gene Information Card
| Symbol | MYO5B |
|---|---|
| Full Name | myosin VB |
| Gene Type | protein coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 4645 ncbi.nlm.nih.gov/gene/4645 |
| Ensembl ID | ENSG00000167306 |
| UniProt ID | Q9ULV0 |
| OMIM ID | 606540 |
| HGNC ID | 7603 |
| Aliases | KIAA1119, MYR5 |
Description
MYO5B encodes myosin VB, an actin-based motor protein involved in intracellular vesicle transport, particularly recycling endosomes and apical protein trafficking in polarized epithelial cells. It is critical for maintaining epithelial polarity and function, especially in the intestine, kidney, and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microvillus Inclusion Disease (MVID) | Loss of MYO5B function disrupts apical protein trafficking, leading to microvillus atrophy and severe congenital diarrhea. | ClinVar, OMIM |
| Cholestasis | MYO5B mutations impair bile acid transport in hepatocytes, causing progressive familial intrahepatic cholestasis. | OMIM, NCBI |
| Inflammatory Bowel Disease (IBD) | MYO5B variants may alter intestinal barrier function, contributing to IBD susceptibility. | NCBI, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 45.2 | High |
| Kidney | 28.1 | Medium |
| Liver | 15.3 | Medium |
| Pancreas | 12.7 | Medium |
| Colon | 38.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 52.3 | Intestinal epithelial cell line |
| HepG2 | 18.7 | Hepatocellular carcinoma cell line |
| HEK 293 | 22.1 | Embryonic kidney cell line |
| MDCK | 35.6 | Canine kidney epithelial cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2678G>A (p.Arg893Gln) | Missense | Rare | Loss of motor function; associated with MVID |
| c.4321C>T (p.Arg1441*) | Nonsense | Rare | Premature stop; loss of function; MVID |
| c.1045_1046del (p.Leu349fs) | Frameshift | Rare | Frameshift; loss of function; MVID |
Mutation functional classification
Loss of Function (LOF)
Most MYO5B mutations are loss-of-function, leading to MVID and cholestasis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may act as dominant-negative by disrupting dimerization or cargo binding.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • microtubule motor activity | • intracellular protein transport |
| • vesicle-mediated transport | • establishment of epithelial cell polarity |
Pathways
• Apical protein trafficking
• Recycling endosome pathway
• Epithelial cell polarity maintenance
Protein Summary
Myosin VB is a 213 kDa protein with an N-terminal motor domain, a neck region with IQ motifs, and a C-terminal globular tail domain that binds cargo. It functions as a processive motor along actin filaments, transporting vesicles to the apical membrane in polarized cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYO5B Knockout HEK293 Cell Line | EDJ-KQ5298 | Human | 4645 | Details Get a Quote |
| MYO5B Knockout A-549 Cell Line | EDJ-KQ28348 | Human | 4645 | Details Get a Quote |
| MYO5B Knockout HCT 116 Cell Line | EDJ-KQ28349 | Human | 4645 | Details Get a Quote |
| MYO5B Knockout HeLa Cell Line | EDJ-KQ28350 | Human | 4645 | Details Get a Quote |
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