UBE2O
Ubiquitin-Conjugating Enzyme E2 O
Gene Information Card
| Symbol | UBE2O |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 O |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 63893 ncbi.nlm.nih.gov/gene/63893 |
| Ensembl ID | ENSG00000108469 |
| UniProt ID | Q9C0C9 |
| OMIM ID | 614347 |
| HGNC ID | 29518 |
| Aliases | E2-230K, UBE2O, FLJ12888, KIAA1734 |
Description
UBE2O (Ubiquitin Conjugating Enzyme E2 O) encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme catalyzes the second step in ubiquitination, transferring ubiquitin from an E1 enzyme to a substrate, often in conjunction with an E3 ligase. UBE2O is involved in protein quality control, cell cycle regulation, and signal transduction. It has been implicated in cancer, neurodegenerative disorders, and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | UBE2O overexpression promotes tumor growth via ubiquitination of tumor suppressors | COSMIC; PMID: 28431213 |
| Prostate cancer | UBE2O amplification correlates with poor prognosis and androgen receptor degradation | COSMIC; PMID: 31073040 |
| Neurodegeneration | UBE2O dysfunction leads to accumulation of misfolded proteins | OMIM; PMID: 25621951 |
| Developmental delay | UBE2O loss-of-function mutations associated with intellectual disability | ClinVar; PMID: 28492532 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.8 | Moderate expression |
| MCF7 | 9.4 | Moderate expression |
| K562 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.187C>T (p.Arg63Trp) | Missense | 0.02% | Loss of ubiquitination activity |
| c.1024G>A (p.Glu342Lys) | Missense | 0.01% | Altered substrate binding |
| c.1456_1457insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations impair ubiquitin transfer, leading to substrate accumulation.
Gain of Function (GOF)
Amplification or overexpression in cancers enhances degradation of tumor suppressors.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Ubiquitin conjugating enzyme activity | • Protein ubiquitination |
| • Ubiquitin-dependent protein catabolic process | • Cytoplasm |
| • Nucleus |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
UBE2O is a 230 kDa ubiquitin-conjugating enzyme that transfers ubiquitin to target proteins, often in concert with E3 ligases. It plays roles in protein homeostasis, cell cycle progression, and signal transduction. Dysregulation is linked to cancer and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2O Knockout HEK293 Cell Line | EDJ-KQ16006 | Human | 63893 | Details Get a Quote |
| UBE2O Knockout HeLa Cell Line | EDJ-KQ45868 | Human | 63893 | Details Get a Quote |
| UBE2O Knockout A-549 Cell Line | EDJ-KQ47084 | Human | 63893 | Details Get a Quote |
| UBE2O Knockout HCT 116 Cell Line | EDJ-KQ47085 | Human | 63893 | Details Get a Quote |
| UBE2O Knockout HAP1 Cell Line | EDC08139 | Human | 63893 | Details Get a Quote |
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