ECT2: Epithelial Cell Transforming Sequence 2 Oncogene
A Rho Guanine Nucleotide Exchange Factor (GEF) in Cytokinesis and Cancer
Gene Information Card
| Symbol | ECT2 |
|---|---|
| Full Name | Epithelial Cell Transforming Sequence 2 Oncogene |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.31 |
| NCBI Gene ID | 1894 ncbi.nlm.nih.gov/gene/1894 |
| Ensembl ID | ENSG00000143847 |
| UniProt ID | Q9H8V3 |
| OMIM ID | 602382 |
| HGNC ID | 3155 |
| Aliases | ARHGEF31, ECT2L, FLJ10461 |
Description
ECT2 (Epithelial Cell Transforming Sequence 2) is a proto-oncogene encoding a Rho guanine nucleotide exchange factor (GEF) that activates Rho GTPases such as RhoA, Rac1, and Cdc42. It plays a critical role in cytokinesis, cell cycle progression, and cell polarity. Overexpression and aberrant activation of ECT2 are implicated in multiple cancers, including lung, breast, ovarian, and glioblastoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | ECT2 overexpression promotes RhoA activation, enhancing cell proliferation and invasion | PMID: 21947068 |
| Breast cancer | ECT2 amplification and overexpression correlate with poor prognosis and metastasis | PMID: 25605248 |
| Glioblastoma | ECT2 drives tumor cell invasion via Rac1 activation | PMID: 23934123 |
| Ovarian cancer | ECT2 gene amplification at 3q26.31 contributes to tumorigenesis | PMID: 20023638 |
| Colorectal cancer | ECT2 upregulation associated with EMT and metastasis | PMID: 28263393 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Medium |
| Brain | 6.1 | Low |
| Ovary | 9.7 | Medium |
| Colon | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 15.8 | High expression |
| MCF7 (breast) | 11.2 | Medium expression |
| U87MG (glioblastoma) | 18.4 | High expression |
| HeLa (cervical) | 14.1 | High expression |
| HCT116 (colon) | 13.5 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1495C>T (p.Arg499Trp) | Missense | <1% | Unknown functional effect |
| c.2023G>A (p.Glu675Lys) | Missense | <1% | Unknown functional effect |
| Amplification | Copy number gain | ~10% in ovarian cancer | Increased ECT2 expression and oncogenic activity |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in cancer; ECT2 is predominantly oncogenic.
Gain of Function (GOF)
Gene amplification and overexpression lead to increased GEF activity, promoting RhoA/Rac1 signaling and tumor progression.
Dominant Negative (DN)
Not described for ECT2.
View complete mutation data：
Gene Ontology (GO)
| • guanyl-nucleotide exchange factor activity (GO:0005085) | • small GTPase mediated signal transduction (GO:0007264) |
| • cell cycle (GO:0007049) | • cytokinesis (GO:0000910) |
| • actin cytoskeleton organization (GO:0030036) | • cell division (GO:0051301) |
Pathways
• Rho GTPase cycle (Reactome: R-HSA-194840)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• RhoA signaling pathway (WikiPathways: WP198)
Protein Summary
ECT2 is a 883-amino acid protein containing a Dbl homology (DH) domain responsible for GEF activity and a pleckstrin homology (PH) domain for membrane localization. It localizes to the midbody during cytokinesis and regulates RhoA activation for contractile ring formation. In cancer, ECT2 is frequently overexpressed due to gene amplification, leading to sustained Rho GTPase signaling, increased cell motility, and invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ECT2L Knockout HEK293 Cell Line | EDJ-KQ13251 | Human | 345930 | Details Get a Quote |
| ECT2L Knockout HeLa Cell Line | EDJ-KQ59793 | Human | 345930 | Details Get a Quote |
| ECT2L Knockout A-549 Cell Line | EDJ-KQ68261 | Human | 345930 | Details Get a Quote |
| ECT2L Knockout HCT 116 Cell Line | EDJ-KQ76638 | Human | 345930 | Details Get a Quote |
