AVIL (Advillin) Gene
Actin-binding protein involved in cytoskeletal dynamics and cancer
Gene Information Card
| Symbol | AVIL |
|---|---|
| Full Name | Advillin |
| Gene Type | protein-coding |
| Chromosomal Location | 12q14.1 |
| NCBI Gene ID | 10677 ncbi.nlm.nih.gov/gene/10677 |
| Ensembl ID | ENSG00000135407 |
| UniProt ID | O75366 |
| OMIM ID | 608732 |
| HGNC ID | 24031 |
| Aliases | DOC6, FLJ12525, MGC138290 |
Description
AVIL encodes advillin, a member of the gelsolin/villin family of actin-regulatory proteins. It binds to actin filaments and modulates cytoskeletal reorganization, cell motility, and signaling. AVIL is implicated in tumorigenesis, particularly in glioblastoma and colorectal cancer, where it may act as an oncogene.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | Overexpression promotes cell migration and invasion via actin remodeling | NCBI Gene, COSMIC |
| Colorectal cancer | Amplification and overexpression linked to poor prognosis | COSMIC, ClinVar |
| Breast cancer | Upregulation associated with metastatic potential | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Colon | 8.2 | Low |
| Breast | 6.1 | Low |
| Lung | 4.3 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| U-87 MG (glioblastoma) | 15.3 | High expression |
| HCT 116 (colorectal) | 10.7 | Moderate expression |
| MCF7 (breast) | 7.4 | Low expression |
| A549 (lung) | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Glu349Lys) | Missense | <0.1% | Unknown |
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown |
| Amplification | Copy number gain | ~5% in glioblastoma | Potential gain-of-function |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Amplification and overexpression in glioblastoma and colorectal cancer suggest oncogenic gain-of-function.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament binding |
| • cytoskeleton organization | • cell migration |
| • regulation of cell shape |
Pathways
• Regulation of actin cytoskeleton
• Signaling by Rho GTPases
Protein Summary
Advillin is a 819-amino acid actin-binding protein with six gelsolin-like domains and a C-terminal villin headpiece domain. It caps and severs actin filaments, regulating cytoskeletal dynamics. Overexpression in cancers enhances cell motility and invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AVIL Knockout HEK293 Cell Line | EDJ-KQ7129 | Human | 10677 | Details Get a Quote |
| AVIL Knockout HCT 116 Cell Line | EDJ-KQ32011 | Human | 10677 | Details Get a Quote |
| AVIL Knockout HeLa Cell Line | EDJ-KQ32012 | Human | 10677 | Details Get a Quote |
| AVIL Knockout A-549 Cell Line | EDJ-KQ63945 | Human | 10677 | Details Get a Quote |
