SVIL Gene - Supervillin
Comprehensive genomic and functional overview of the SVIL gene encoding supervillin, an actin-binding protein involved in cell adhesion and motility.
Gene Information Card
| Symbol | SVIL |
|---|---|
| Full Name | Supervillin |
| Gene Type | Protein coding |
| Chromosomal Location | 10p11.23 |
| NCBI Gene ID | 6840 ncbi.nlm.nih.gov/gene/6840 |
| Ensembl ID | ENSG00000119912 |
| UniProt ID | O95425 |
| OMIM ID | 604006 |
| HGNC ID | 11480 |
| Aliases | p205, FLJ00012, MGC138211, MGC138213 |
Description
The SVIL gene encodes supervillin, a large actin-binding protein that links the actin cytoskeleton to the plasma membrane. It plays a key role in cell adhesion, migration, and cytokinesis. Alternative splicing generates multiple isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression of SVIL affects cell motility and invasion | COSMIC, literature |
| Inflammatory bowel disease | SVIL variants associated with barrier dysfunction | GWAS, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 32.5 | Medium |
| Heart | 28.1 | Medium |
| Lung | 15.3 | Low |
| Colon | 12.8 | Low |
| Brain | 8.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer |
| A549 | 14.2 | Lung cancer |
| HepG2 | 11.0 | Liver cancer |
| MCF7 | 9.8 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | Unknown |
| c.567_568insA | Frameshift | <0.01% | Loss of function |
| c.890G>A | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament binding |
| • cell adhesion | • cell migration |
| • cytoskeleton organization | • plasma membrane |
Pathways
• Actin cytoskeleton regulation
• Focal adhesion
Protein Summary
Supervillin is a 205 kDa actin-binding protein that localizes to the plasma membrane and interacts with myosin II and other cytoskeletal components. It regulates cell adhesion, spreading, and migration. Isoforms vary in length and tissue distribution.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SVIL Knockout HEK293 Cell Line | EDJ-KQ5869 | Human | 6840 | Details Get a Quote |
| SVIL Knockout A-549 Cell Line | EDJ-KQ29356 | Human | 6840 | Details Get a Quote |
| SVIL Knockout HCT 116 Cell Line | EDJ-KQ29357 | Human | 6840 | Details Get a Quote |
| SVIL Knockout HeLa Cell Line | EDJ-KQ29358 | Human | 6840 | Details Get a Quote |
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