EVL (Enah/Vasp-like)
Actin cytoskeleton regulator involved in cell motility and cancer progression
Gene Information Card
| Symbol | EVL |
|---|---|
| Full Name | Enah/Vasp-like |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.32 |
| NCBI Gene ID | 51466 ncbi.nlm.nih.gov/gene/51466 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9UI08 |
| OMIM ID | 616640 |
| HGNC ID | HGNC:3491 |
| Aliases | RNB6, EVL1 |
Description
EVL (Enah/Vasp-like) encodes a member of the Ena/VASP family of actin-associated proteins. The protein regulates actin filament dynamics, cell adhesion, and migration. It is involved in neurite outgrowth, T-cell polarization, and cancer cell invasion. EVL is widely expressed and its dysregulation is linked to tumor progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | EVL overexpression promotes actin polymerization and cell migration, enhancing metastatic potential. | PMID: 23431137 |
| Breast Cancer | EVL upregulation correlates with invasive phenotype and poor prognosis. | PMID: 25605248 |
| Lung Cancer | EVL expression is elevated in non-small cell lung cancer and associated with lymph node metastasis. | PMID: 27158373 |
| Gastric Cancer | EVL overexpression drives tumor cell invasion via actin cytoskeleton remodeling. | PMID: 28692053 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 15.2 | Medium |
| Breast | 9.1 | Low |
| Liver | 6.7 | Low |
| Kidney | 11.4 | Medium |
| Testis | 18.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| A549 | 10.2 | Lung cancer cell line |
| MCF7 | 8.9 | Breast cancer cell line |
| HCT116 | 16.3 | Colorectal cancer cell line |
| HEK293 | 12.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ala34Val) | Missense | <0.1% | Unknown significance |
| c.457G>A (p.Glu153Lys) | Missense | <0.1% | Unknown significance |
| c.784_785insA (p.Thr262Asnfs*5) | Frameshift | <0.1% | Loss of function |
| c.1123C>T (p.Arg375*) | Nonsense | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Thr262Asnfs*5, p.Arg375*) are predicted to truncate the protein, impairing actin binding and regulatory functions.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in EVL.
Dominant Negative (DN)
No evidence for dominant-negative effects in EVL.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • actin cytoskeleton organization (GO:0030036) |
| • cell differentiation (GO:0030154) | • locomotion (GO:0040011) |
| • actin filament polymerization (GO:0051015) |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Focal adhesion (KEGG: hsa04510)
• Axon guidance (KEGG: hsa04360)
Protein Summary
EVL is a 393-amino acid protein (UniProt Q9UI08) containing an N-terminal Ena/VASP homology 1 (EVH1) domain, a central proline-rich region, and a C-terminal EVH2 domain. The EVH1 domain mediates protein-protein interactions, while the EVH2 domain binds actin and promotes filament elongation. EVL localizes to focal adhesions, lamellipodia, and filopodia, regulating cell motility and adhesion. Post-translational modifications include phosphorylation at Ser157 and Ser239, modulating its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EVL Knockout HEK293 Cell Line | EDJ-KQ1333 | Human | 51466 | Details Get a Quote |
| EVL Knockout HeLa Cell Line | EDJ-KQ19442 | Human | 51466 | Details Get a Quote |
| EVL Knockout A-549 Cell Line | EDJ-KQ20783 | Human | 51466 | Details Get a Quote |
| EVL Knockout HCT 116 Cell Line | EDJ-KQ20784 | Human | 51466 | Details Get a Quote |
