ELK4 Gene - ETS Transcription Factor ELK4
A member of the ETS family of transcription factors involved in cell proliferation, differentiation, and oncogenesis.
Gene Information Card
| Symbol | ELK4 |
|---|---|
| Full Name | ETS transcription factor ELK4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 2005 ncbi.nlm.nih.gov/gene/2005 |
| Ensembl ID | ENSG00000158711 |
| UniProt ID | P28324 |
| OMIM ID | 600246 |
| HGNC ID | 3326 |
| Aliases | SAP1, SRF accessory protein 1 |
Description
ELK4 (ETS transcription factor ELK4) is a member of the ETS family of transcription factors. It forms a ternary complex with serum response factor (SRF) and the serum response element (SRE) in the promoter of immediate early genes such as c-fos. ELK4 is involved in regulating cell proliferation, differentiation, and apoptosis. It is also implicated in oncogenesis, particularly in prostate cancer and Ewing sarcoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | ELK4 fusions (e.g., TMPRSS2-ELK4) drive androgen-independent expression of ELK4, promoting cell proliferation and invasion. | COSMIC, ClinVar |
| Ewing Sarcoma | ELK4 is part of the EWSR1-ELK4 fusion gene, leading to aberrant transcriptional activation. | COSMIC, ClinVar |
| Breast Cancer | Overexpression of ELK4 correlates with poor prognosis and increased metastatic potential. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 12.5 | Medium |
| Breast | 8.3 | Low |
| Lung | 6.7 | Low |
| Colon | 5.1 | Low |
| Brain | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC3 (prostate cancer) | 15.2 | High expression |
| MCF7 (breast cancer) | 9.8 | Moderate expression |
| A549 (lung cancer) | 7.4 | Low expression |
| HEK293 (embryonic kidney) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| TMPRSS2-ELK4 fusion | Gene fusion | Common in prostate cancer (5-10%) | Constitutive activation of ELK4 transcription factor activity |
| EWSR1-ELK4 fusion | Gene fusion | Rare in Ewing sarcoma | Oncogenic transcriptional reprogramming |
| p.Ser103Ala | Missense | <0.1% | Altered phosphorylation and reduced transactivation |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
TMPRSS2-ELK4 and EWSR1-ELK4 fusions result in gain-of-function by constitutive activation of ELK4 transcriptional activity.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • chromatin binding | • regulation of transcription by RNA polymerase II |
| • cell population proliferation | • positive regulation of transcription |
| • DNA-templated |
Pathways
• MAPK signaling pathway
• Transcriptional misregulation in cancer
• Signaling by Rho GTPases
• Regulation of actin cytoskeleton
Protein Summary
ELK4 is a 431-amino acid protein with an N-terminal ETS DNA-binding domain and a C-terminal transcriptional activation domain. It is phosphorylated by MAP kinases (ERK1/2) in response to growth factor signaling, leading to nuclear translocation and activation of target genes. The protein is predominantly nuclear and acts as a transcriptional activator.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELK4 Knockout HEK293 Cell Line | EDJ-KQ653 | Human | 2005 | Details Get a Quote |
| ELK4 Knockout A-549 Cell Line | EDJ-KQ19153 | Human | 2005 | Details Get a Quote |
| ELK4 Knockout HCT 116 Cell Line | EDJ-KQ19154 | Human | 2005 | Details Get a Quote |
| ELK4 Knockout HeLa Cell Line | EDJ-KQ19155 | Human | 2005 | Details Get a Quote |
