ETV4 Gene: ETS Variant Transcription Factor 4
Key regulator of development and oncogenesis
Gene Information Card
| Symbol | ETV4 |
|---|---|
| Full Name | ETS variant transcription factor 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 2118 ncbi.nlm.nih.gov/gene/2118 |
| Ensembl ID | ENSG00000175832 |
| UniProt ID | P43268 |
| OMIM ID | 600711 |
| HGNC ID | 3493 |
| Aliases | PEA3, E1AF, E1A-F |
Description
ETV4 (ETS variant transcription factor 4) is a member of the PEA3 subfamily of ETS transcription factors. It binds to DNA sequences containing the consensus core sequence GGAA/T and regulates the expression of genes involved in cellular proliferation, differentiation, and migration. ETV4 is frequently overexpressed in various cancers and plays a role in tumor invasion and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression of ETV4 leads to activation of oncogenic transcriptional programs promoting invasion and metastasis. | PMID: 16959974, NCBI Gene |
| Breast cancer | ETV4 amplification and overexpression correlate with poor prognosis and metastatic progression. | PMID: 17975020, COSMIC |
| Colorectal cancer | ETV4 upregulation contributes to epithelial-mesenchymal transition and tumor aggressiveness. | PMID: 22198284, COSMIC |
| Ovarian cancer | ETV4 overexpression promotes cell migration and invasion via matrix metalloproteinase induction. | PMID: 19137010, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 10.2 | Medium |
| Prostate | 8.5 | Medium |
| Breast | 6.1 | Low |
| Colon | 5.8 | Low |
| Ovary | 4.3 | Low |
| Testis | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC3 (prostate cancer) | 12.4 | High expression |
| MCF7 (breast cancer) | 7.8 | Moderate expression |
| HCT116 (colorectal cancer) | 6.5 | Moderate expression |
| A549 (lung cancer) | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.457C>T (p.Arg153Trp) | Missense | Rare | Unknown significance |
| Amplification | Copy number gain | Frequent in prostate cancer | Gain of function, increased expression |
Mutation functional classification
Loss of Function (LOF)
Rare truncating or start-loss mutations may reduce transcriptional activity.
Gain of Function (GOF)
Gene amplification and overexpression lead to increased transcriptional activation of target genes.
Dominant Negative (DN)
Not well documented for ETV4.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MAPK signaling pathway (Reactome: R-HSA-5673001)
• Transcriptional regulation by ETS factors (Reactome: R-HSA-8953854)
• Signaling by receptor tyrosine kinases (Reactome: R-HSA-9006934)
Protein Summary
ETV4 is a 484-amino acid transcription factor containing an ETS DNA-binding domain. It forms homodimers and heterodimers with other ETS proteins and is regulated by MAPK phosphorylation. The protein localizes to the nucleus and activates transcription of genes involved in cell cycle, invasion, and angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ETV4 Knockout HEK293 Cell Line | EDJ-KQ537 | Human | 2118 | Details Get a Quote |
| ETV4 Knockout A-549 Cell Line | EDJ-KQ20245 | Human | 2118 | Details Get a Quote |
| ETV4 Knockout HCT 116 Cell Line | EDJ-KQ20247 | Human | 2118 | Details Get a Quote |
| ETV4 Knockout HeLa Cell Line | EDJ-KQ20248 | Human | 2118 | Details Get a Quote |
| ETV4 (c.155-117T>C )Point Mutation in HAP1 Cell Line | EDC03472 | Human | 2118 | Details Get a Quote |
| ETV4 (c.61-5C>A )Point Mutation in HAP1 Cell Line | EDC03473 | Human | 2118 | Details Get a Quote |
