ENAH (Enabled Homolog) Gene
Actin Regulatory Protein Involved in Cell Motility and Cancer Progression
Gene Information Card
| Symbol | ENAH |
|---|---|
| Full Name | ENAH, actin regulator |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.12 |
| NCBI Gene ID | 55740 ncbi.nlm.nih.gov/gene/55740 |
| Ensembl ID | ENSG00000143384 |
| UniProt ID | Q8N8S7 |
| OMIM ID | 609061 |
| HGNC ID | 3347 |
| Aliases | MENAH, hMena, Mena |
Description
ENAH (Enabled homolog) encodes a member of the Ena/VASP family of actin-binding proteins. The protein localizes to focal adhesions, lamellipodia, and filopodia, regulating actin filament elongation and dynamics. It plays a critical role in cell migration, adhesion, and invasion, and is implicated in cancer metastasis and neuronal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of ENAH promotes cell migration and invasion via actin polymerization at the leading edge. | PMID: 20010872; COSMIC |
| Colorectal Cancer | ENAH upregulation correlates with poor prognosis and increased metastatic potential. | PMID: 23542345; COSMIC |
| Prostate Cancer | ENAH isoform expression (e.g., MenaINV) enhances invasion and metastasis. | PMID: 24755471; COSMIC |
| Neuronal Migration Disorders | ENAH mutations disrupt actin dynamics in developing neurons, leading to lissencephaly-like phenotypes. | OMIM: 609061; PMID: 19136952 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 15.2 | Medium |
| Lung | 9.1 | Low |
| Prostate | 11.4 | Medium |
| Skin | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast cancer) | 14.2 | High expression; associated with invasive phenotype |
| HCT116 (Colorectal cancer) | 16.8 | High expression; promotes migration |
| PC3 (Prostate cancer) | 13.5 | High expression; MenaINV isoform detected |
| HEK293 (Embryonic kidney) | 9.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Altered actin binding; potential loss of function |
| c.567_569del (p.Lys189del) | In-frame deletion | <0.1% | Disrupted VASP homology domain; reduced cell motility |
| c.2101C>T (p.Arg701Trp) | Missense | <0.1% | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Rare missense mutations in the EVH1 domain impair actin binding and reduce cell migration.
Gain of Function (GOF)
Overexpression and isoform switching (e.g., MenaINV) enhance invasive capacity in cancer cells.
Dominant Negative (DN)
Not well characterized; some truncating mutations may interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • actin cytoskeleton organization (GO:0030036) |
| • lamellipodium (GO:0030027) | • contractile actin filament bundle assembly (GO:0030038) |
| • plasma membrane (GO:0005886) | • focal adhesion (GO:0005925) |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Focal adhesion (KEGG: hsa04510)
• Ena/VASP signaling (Reactome: R-HSA-5663205)
Protein Summary
ENAH (Mena) is a 570-amino acid actin-binding protein with an N-terminal EVH1 domain, a central proline-rich region, and a C-terminal EVH2 domain. It promotes actin filament elongation by antagonizing capping proteins. Alternative splicing generates isoforms with distinct functions: MenaINV (invasion-specific) enhances metastasis, while Mena11a suppresses invasion. Phosphorylation by kinases such as Abl and Src regulates its activity. The protein is overexpressed in multiple cancers and is a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENAH Knockout HEK293 Cell Line | EDJ-KQ1332 | Human | 55740 | Details Get a Quote |
| ENAH Knockout A-549 Cell Line | EDJ-KQ20780 | Human | 55740 | Details Get a Quote |
| ENAH Knockout HCT 116 Cell Line | EDJ-KQ20781 | Human | 55740 | Details Get a Quote |
| ENAH Knockout HeLa Cell Line | EDJ-KQ20782 | Human | 55740 | Details Get a Quote |
