VIM Gene (Vimentin): Structure, Function, and Clinical Significance
A comprehensive guide to the VIM gene, encoding vimentin, a key intermediate filament protein involved in cell structure, migration, and disease.
Gene Information Card
| Symbol | VIM |
|---|---|
| Full Name | Vimentin |
| Gene Type | Protein coding |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | 7431 ncbi.nlm.nih.gov/gene/7431 |
| Ensembl ID | ENSG00000026025 |
| UniProt ID | P08670 |
| OMIM ID | 193060 |
| HGNC ID | 12692 |
| Aliases | FLJ36605; MGC50735 |
Description
The VIM gene encodes vimentin, a type III intermediate filament protein expressed in mesenchymal cells. Vimentin provides structural integrity to cells, maintains cytoskeletal organization, and plays roles in cell adhesion, migration, and signaling. It is widely used as a marker for epithelial-to-mesenchymal transition (EMT) and is implicated in various cancers and other pathologies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cataract | Mutations in VIM can cause abnormal aggregation of vimentin filaments in lens epithelial cells, leading to cataract formation. | OMIM |
| Cancer (various types) | Overexpression of vimentin is associated with EMT, increased invasiveness, and poor prognosis in breast, lung, colorectal, and other cancers. | COSMIC, PubMed |
| Inflammatory diseases | Vimentin is involved in immune response and inflammation; autoantibodies against vimentin are found in rheumatoid arthritis and other autoimmune conditions. | PubMed |
| Fibrosis | Vimentin expression is upregulated in fibrotic tissues, contributing to myofibroblast activation and extracellular matrix deposition. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 123.4 | High |
| Lung | 89.2 | High |
| Spleen | 76.5 | Medium |
| Liver | 45.1 | Medium |
| Brain | 12.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 150.2 | High expression; used as positive control |
| A549 | 98.7 | High; lung carcinoma |
| MCF7 | 45.6 | Moderate; breast cancer |
| HepG2 | 30.1 | Low; liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Asp85Tyr | Missense | Rare | Disrupts filament assembly; associated with cataract |
| p.Arg113Cys | Missense | Rare | Alters protein stability; potential pathogenic |
| p.Glu151Lys | Missense | Rare | Affects filament formation; reported in cancer |
| p.Val160Met | Missense | Rare | Unknown; possibly benign |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in VIM are rare; they may impair filament formation, leading to cellular fragility and altered signaling.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented; overexpression is more common in cancer, promoting EMT and metastasis.
Dominant Negative (DN)
Some missense mutations act in a dominant-negative manner, disrupting vimentin filament assembly and causing cellular dysfunction.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity | • intermediate filament binding |
| • protein binding | • RNA binding |
| • cell adhesion | • cell migration |
| • epithelial to mesenchymal transition | • cytoskeleton organization |
Pathways
• Intermediate filament cytoskeleton
• Epithelial-to-mesenchymal transition (EMT)
• Regulation of actin cytoskeleton
• Apoptosis signaling
Protein Summary
Vimentin is a 57 kDa type III intermediate filament protein that forms homopolymers and heteropolymers with other intermediate filaments. It is essential for maintaining cell shape, cytoplasmic organization, and mechanical stability. Vimentin also participates in signal transduction, cell migration, and wound healing. Its expression is dynamically regulated during development and in pathological conditions such as cancer, where it marks cells undergoing EMT.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VIM Knockout HEK293 Cell Line | EDJ-KQ3268 | Human | 7431 | Details Get a Quote |
| VIM Knockout HeLa Cell Line | EDJ-KQ18321 | Human | 7431 | Details Get a Quote |
| VIM Knockout A-549 Cell Line | EDJ-KQ24817 | Human | 7431 | Details Get a Quote |
| VIM Knockout HCT 116 Cell Line | EDJ-KQ24818 | Human | 7431 | Details Get a Quote |
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