TLE2 Gene (Transducin-Like Enhancer of Split 2)
Transcriptional Corepressor in the Notch Signaling Pathway
Gene Information Card
| Symbol | TLE2 |
|---|---|
| Full Name | Transducin-Like Enhancer of Split 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 7089 ncbi.nlm.nih.gov/gene/7089 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q04725 |
| OMIM ID | 601041 |
| HGNC ID | 11838 |
| Aliases | ESG, GRG2, TLE2 |
Description
TLE2 (Transducin-Like Enhancer of Split 2) encodes a member of the TLE/Groucho family of transcriptional corepressors. The protein interacts with transcription factors, including those in the Notch signaling pathway, to repress target gene expression. TLE2 is involved in developmental processes and cellular differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Liver | 3.1 | Low |
| Kidney | 6.7 | Low |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical carcinoma cells |
| K562 | 5.4 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown functional impact |
| c.567delA (p.Glu189fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delA) are predicted to cause loss of function due to premature truncation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • transcription corepressor activity (GO:0003714) | • nucleus (GO:0005634) |
| • transcription factor binding (GO:0008134) | • negative regulation of transcription by RNA polymerase II (GO:0045944) |
Pathways
• Notch signaling pathway (Reactome: R-HSA-157118)
• Developmental biology (Reactome: R-HSA-1266738)
Protein Summary
The TLE2 protein (UniProt Q04725) is a 743-amino-acid transcriptional corepressor containing a conserved N-terminal Q domain for tetramerization and a C-terminal WD40 repeat domain for protein-protein interactions. It functions by recruiting histone deacetylases to repress transcription, playing a role in cell fate determination and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TLE2 Knockout HEK293 Cell Line | EDJ-KQ342 | Human | 7089 | Details Get a Quote |
| TLE2 Knockout A-549 Cell Line | EDJ-KQ18518 | Human | 7089 | Details Get a Quote |
| TLE2 Knockout HCT 116 Cell Line | EDJ-KQ18519 | Human | 7089 | Details Get a Quote |
| TLE2 Knockout HeLa Cell Line | EDJ-KQ18520 | Human | 7089 | Details Get a Quote |
