ETS2: ETS Proto-Oncogene 2, Transcription Factor
A key transcription factor in development, inflammation, and cancer
Gene Information Card
| Symbol | ETS2 |
|---|---|
| Full Name | ETS Proto-Oncogene 2, Transcription Factor |
| Gene Type | Protein-coding |
| Chromosomal Location | 21q22.2 |
| NCBI Gene ID | 2114 ncbi.nlm.nih.gov/gene/2114 |
| Ensembl ID | ENSG00000157557 |
| UniProt ID | P15036 |
| OMIM ID | 164740 |
| HGNC ID | 3489 |
| Aliases | ETS2, ETS2A, ETS2B |
Description
ETS2 is a member of the ETS family of transcription factors, characterized by a conserved ETS DNA-binding domain. It regulates the expression of genes involved in cell proliferation, differentiation, apoptosis, angiogenesis, and immune responses. ETS2 is located on chromosome 21 and is implicated in Down syndrome phenotypes due to trisomy 21. It also plays a role in various cancers, including prostate, breast, and leukemia, often through overexpression or gene amplification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Down Syndrome | Overexpression due to trisomy 21 contributes to developmental abnormalities and increased risk of leukemia and Alzheimer's disease. | OMIM 164740; PMID: 10430841 |
| Prostate Cancer | ETS2 overexpression promotes cell proliferation and invasion via transcriptional activation of target genes. | COSMIC; PMID: 23382250 |
| Acute Myeloid Leukemia (AML) | ETS2 fusions (e.g., ETV6-ETS2) or overexpression drive leukemogenesis. | COSMIC; PMID: 23955588 |
| Breast Cancer | ETS2 amplification and overexpression correlate with poor prognosis and metastasis. | COSMIC; PMID: 21947009 |
| Rheumatoid Arthritis | ETS2 upregulates inflammatory cytokines (e.g., IL-1, TNF-alpha) in synovial fibroblasts. | PMID: 11590188 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Placenta | 10.8 | Medium |
| Spleen | 9.5 | Medium |
| Bone Marrow | 8.2 | Medium |
| Thymus | 7.9 | Medium |
| Lymph Node | 7.1 | Low |
| Brain | 3.4 | Low |
| Heart | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.6 | High expression |
| HeLa (cervical) | 9.8 | Medium expression |
| A549 (lung) | 8.4 | Medium expression |
| MCF7 (breast) | 6.2 | Low expression |
| HEK293 (embryonic kidney) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon; likely loss of function |
| c.104C>T (p.Thr35Met) | Missense | <0.1% | Unknown significance |
| c.457G>A (p.Glu153Lys) | Missense | <0.1% | Unknown significance |
| c.742C>T (p.Arg248Trp) | Missense | <0.1% | Unknown significance |
| c.1045G>A (p.Gly349Arg) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Met1?) may disrupt protein expression or DNA binding, but no established pathogenic loss-of-function mutations are reported.
Gain of Function (GOF)
Overexpression or amplification (e.g., in prostate cancer) acts as a gain-of-function mechanism, enhancing transcriptional activity.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ETS2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MAPK signaling pathway (KEGG: hsa04010)
• ErbB signaling pathway (KEGG: hsa04012)
• Prostate cancer (KEGG: hsa05215)
• Transcriptional misregulation in cancer (KEGG: hsa05202)
• Down syndrome (KEGG: hsa05034)
Protein Summary
ETS2 is a 469-amino-acid transcription factor containing a conserved ETS domain that binds to DNA sequences containing the core motif GGAA/T. It is activated by MAPK phosphorylation and regulates target genes involved in cell cycle, differentiation, and inflammation. The protein is predominantly nuclear and is expressed in multiple tissues, with highest levels in lung, placenta, and hematopoietic cells. ETS2 is implicated in oncogenesis through overexpression and in Down syndrome through gene dosage effects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ETS2 Knockout HEK293 Cell Line | EDJ-KQ709 | Human | 2114 | Details Get a Quote |
| ETS2 Knockout A-549 Cell Line | EDJ-KQ20656 | Human | 2114 | Details Get a Quote |
| ETS2 Knockout HCT 116 Cell Line | EDJ-KQ20657 | Human | 2114 | Details Get a Quote |
| ETS2 Knockout HeLa Cell Line | EDJ-KQ20658 | Human | 2114 | Details Get a Quote |
