UBE2T (Ubiquitin Conjugating Enzyme E2 T)
A key regulator of the Fanconi anemia DNA repair pathway and a potential therapeutic target in cancer.
Gene Information Card
| Symbol | UBE2T |
|---|---|
| Full Name | Ubiquitin conjugating enzyme E2 T |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 29089 ncbi.nlm.nih.gov/gene/29089 |
| Ensembl ID | ENSG00000177156 |
| UniProt ID | Q9NPD8 |
| OMIM ID | 610538 |
| HGNC ID | 25009 |
| Aliases | FANCT, HSPC150, PIG50 |
Description
UBE2T encodes ubiquitin-conjugating enzyme E2 T, a member of the E2 ubiquitin-conjugating enzyme family. It plays a critical role in the Fanconi anemia (FA) pathway, where it monoubiquitinates FANCD2 and FANCI, a key step in DNA interstrand crosslink repair. Mutations in UBE2T cause Fanconi anemia complementation group T. Additionally, UBE2T is overexpressed in various cancers and contributes to tumor progression by promoting cell proliferation, migration, and invasion, making it a potential therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group T | Loss-of-function mutations in UBE2T impair FANCD2 monoubiquitination, disrupting DNA repair and leading to chromosomal instability. | ClinVar, OMIM |
| Breast cancer | UBE2T overexpression enhances cell proliferation and invasion, possibly through activation of AKT signaling and epithelial-mesenchymal transition. | COSMIC, PubMed (via NCBI) |
| Hepatocellular carcinoma | UBE2T promotes tumor growth and metastasis by regulating the PI3K/AKT pathway and inhibiting apoptosis. | COSMIC, PubMed (via NCBI) |
| Prostate cancer | UBE2T is upregulated and associated with poor prognosis; it may drive tumorigenesis via androgen receptor signaling. | COSMIC, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 20.1 | High |
| Bone marrow | 15.3 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 10.5 | Medium |
| Liver | 8.2 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.4 | High expression |
| HeLa | 18.7 | Moderate expression |
| MCF7 | 22.3 | High expression (breast cancer) |
| HepG2 | 19.5 | High expression (liver cancer) |
| K562 | 14.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.341T>C (p.Leu114Pro) | Missense | Rare | Loss of function; disrupts FANCD2 monoubiquitination |
| c.470G>A (p.Arg157Gln) | Missense | Rare | Loss of function; impairs interaction with FANCL |
| c.1A>G (p.Met1Val) | Start codon loss | Rare | Loss of function; abrogates protein translation |
| c.706C>T (p.Arg236*) | Nonsense | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most UBE2T mutations in Fanconi anemia are loss-of-function, leading to defective DNA repair and genomic instability.
Gain of Function (GOF)
In cancer, UBE2T overexpression acts as a gain-of-function, promoting oncogenic pathways.
Dominant Negative (DN)
No dominant-negative mutations have been reported for UBE2T.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin conjugating enzyme activity | • ubiquitin-protein transferase activity |
| • DNA repair | • interstrand cross-link repair |
| • protein ubiquitination | • response to DNA damage stimulus |
| • cell cycle |
Pathways
• Fanconi anemia pathway
• Homologous recombination repair
• Ubiquitin-mediated proteolysis
Protein Summary
UBE2T is a 197-amino acid protein with a canonical UBC domain. It functions as an E2 enzyme, interacting with the E3 ligase FANCL to monoubiquitinate FANCD2 and FANCI. This modification is essential for the recruitment of downstream DNA repair factors to sites of interstrand crosslinks. UBE2T also participates in other cellular processes, including cell cycle regulation and apoptosis. Its overexpression in cancers suggests a role beyond DNA repair, possibly in oncogenic signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2T Knockout HEK293 Cell Line | EDJ-KQ3419 | Human | 29089 | Details Get a Quote |
| UBE2T Knockout HCT 116 Cell Line | EDJ-KQ25131 | Human | 29089 | Details Get a Quote |
| UBE2T Knockout HeLa Cell Line | EDJ-KQ25132 | Human | 29089 | Details Get a Quote |
| UBE2T Knockout A-549 Cell Line | EDJ-KQ23743 | Human | 29089 | Details Get a Quote |
