DTX2: Deltex E3 Ubiquitin Ligase 2
A regulator of Notch signaling and ubiquitination
Gene Information Card
| Symbol | DTX2 |
|---|---|
| Full Name | Deltex E3 Ubiquitin Ligase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 23244 ncbi.nlm.nih.gov/gene/23244 |
| Ensembl ID | ENSG00000105971 |
| UniProt ID | Q86UW9 |
| OMIM ID | 613141 |
| HGNC ID | 15973 |
| Aliases | RNF177, hDTX2 |
Description
DTX2 encodes deltex 2, a member of the deltex family of E3 ubiquitin ligases. It functions as a positive regulator of Notch signaling by promoting ubiquitination and endocytosis of the Notch receptor. DTX2 is involved in developmental processes and has been implicated in cancer and immune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Notch-related developmental disorders | Altered Notch signaling via ubiquitination | OMIM #613141 |
| Breast cancer | Overexpression may dysregulate Notch pathway | COSMIC (cancer.sanger.ac.uk) |
| Lung cancer | Somatic mutations observed | COSMIC (cancer.sanger.ac.uk) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Low |
| Lung | 6.5 | Low |
| Liver | 4.1 | Not detected |
| Kidney | 7.0 | Low |
| Testis | 12.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Embryonic kidney |
| HeLa | 8.0 | Cervical cancer |
| A549 | 6.2 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.1% | Unknown functional impact |
| c.1246G>A (p.Gly416Arg) | Missense | <0.1% | Reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted loss of E3 ligase activity may impair Notch regulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • protein binding (GO:0005515) |
| • Notch signaling pathway (GO:0007219) | • protein ubiquitination (GO:0016567) |
| • cell differentiation (GO:0030154) |
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
Protein Summary
DTX2 is a 622-amino acid protein containing a RING-type zinc finger domain characteristic of E3 ubiquitin ligases. It localizes to the cytoplasm and nucleus and interacts with the Notch receptor to facilitate its ubiquitination and endocytosis, thereby modulating Notch signaling activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DTX2 Knockout HEK293 Cell Line | EDJ-KQ419 | Human | 113878 | Details Get a Quote |
| DTX2 Knockout A-549 Cell Line | EDJ-KQ18687 | Human | 113878 | Details Get a Quote |
| DTX2 Knockout HCT 116 Cell Line | EDJ-KQ18688 | Human | 113878 | Details Get a Quote |
| DTX2 Knockout HeLa Cell Line | EDJ-KQ18689 | Human | 113878 | Details Get a Quote |
