VILL
Villin Like
Gene Information Card
| Symbol | VILL |
|---|---|
| Full Name | villin like |
| Gene Type | protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 50853 ncbi.nlm.nih.gov/gene/50853 |
| Ensembl ID | ENSG00000114529 |
| UniProt ID | Q9Y2I2 |
| OMIM ID | 609590 |
| HGNC ID | 12691 |
| Aliases | VIL3, villin-3 |
Description
VILL (villin like) is a protein coding gene that encodes a member of the villin/gelsolin family of actin-binding proteins. The encoded protein is involved in actin cytoskeleton organization and is expressed in brush border microvilli of intestinal and kidney epithelial cells. It may play a role in cell migration and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression may affect actin dynamics and cell migration | COSMIC, NCBI Gene |
| Renal cell carcinoma | Dysregulation of brush border proteins | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 82.3 | High |
| Colon | 61.5 | High |
| Kidney | 45.2 | Medium |
| Stomach | 30.1 | Medium |
| Liver | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 75.4 | Intestinal epithelial cell line |
| HCT 116 | 68.2 | Colorectal carcinoma cell line |
| HEK 293 | 12.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | <0.01% | Unknown; predicted benign |
| c.567_568insA | frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of actin-binding function.
Gain of Function (GOF)
No evidence of gain-of-function mutations in VILL.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament severing |
| • actin cytoskeleton organization | • microvillus assembly |
| • cell migration |
Pathways
• Actin cytoskeleton regulation
• Microvillus assembly
Protein Summary
The VILL protein (villin like) is a 75 kDa actin-binding protein belonging to the villin/gelsolin family. It contains three gelsolin-like domains and a villin headpiece domain. It caps, severs, and bundles actin filaments, contributing to the formation and maintenance of brush border microvilli in epithelial cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VILL Knockout HEK293 Cell Line | EDJ-KQ10834 | Human | 50853 | Details Get a Quote |
| VILL Knockout HCT 116 Cell Line | EDJ-KQ38486 | Human | 50853 | Details Get a Quote |
| VILL Knockout HeLa Cell Line | EDJ-KQ56198 | Human | 50853 | Details Get a Quote |
| VILL Knockout A-549 Cell Line | EDJ-KQ64688 | Human | 50853 | Details Get a Quote |
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