ECT2L
Epithelial Cell Transforming 2 Like
Gene Information Card
| Symbol | ECT2L |
|---|---|
| Full Name | Epithelial Cell Transforming 2 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 6q24.1 |
| NCBI Gene ID | 345930 ncbi.nlm.nih.gov/gene/345930 |
| Ensembl ID | ENSG00000146374 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 618422 |
| HGNC ID | 26918 |
| Aliases | FLJ10324, MGC138290 |
Description
ECT2L (Epithelial Cell Transforming 2 Like) is a protein-coding gene located on chromosome 6q24.1. It encodes a guanine nucleotide exchange factor (GEF) for Rho GTPases, involved in cell cycle regulation and cytokinesis. The gene is expressed in various tissues and has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered GEF activity may disrupt Rho GTPase signaling, promoting cell proliferation and migration | COSMIC database reports somatic mutations in multiple cancer types |
| Primary microcephaly | Loss-of-function mutations impair cytokinesis, leading to reduced neuronal progenitor cell division | OMIM #618422 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| A549 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2152C>T (p.Arg718Trp) | Missense | <0.1% | Unknown functional impact |
| c.2875G>A (p.Gly959Ser) | Missense | <0.1% | Reported in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations predicted to truncate the protein, impairing GEF activity and cytokinesis.
Gain of Function (GOF)
Not well characterized; some missense variants may increase GEF activity, potentially promoting oncogenic signaling.
Dominant Negative (DN)
Not reported for ECT2L.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rho guanyl-nucleotide exchange factor activity |
| • cytokinesis | • cell division |
| • cytoplasm | • midbody |
Pathways
• Rho GTPase cycle
• Regulation of actin cytoskeleton
• Cell cycle - cytokinesis
Protein Summary
ECT2L is a guanine nucleotide exchange factor (GEF) that activates Rho GTPases by promoting exchange of GDP for GTP. It localizes to the midbody during cytokinesis and is essential for proper cell division. The protein contains a PH domain and a DH (Dbl homology) domain characteristic of RhoGEFs. ECT2L is structurally similar to ECT2 but has distinct expression patterns and functions.
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 |
