UBE2D3 Gene - Ubiquitin Conjugating Enzyme E2 D3
Comprehensive genomic and functional analysis of UBE2D3, a key E2 ubiquitin-conjugating enzyme involved in protein degradation and signaling pathways.
Gene Information Card
| Symbol | UBE2D3 |
|---|---|
| Full Name | Ubiquitin conjugating enzyme E2 D3 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 7323 ncbi.nlm.nih.gov/gene/7323 |
| Ensembl ID | ENSG00000109320 |
| UniProt ID | P61077 |
| OMIM ID | 602963 |
| HGNC ID | 12478 |
| Aliases | E2(17)KB1, UBC4/5, UBCH5C |
Description
UBE2D3 (Ubiquitin Conjugating Enzyme E2 D3) is a protein-coding gene that encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme catalyzes the second step in ubiquitin conjugation, transferring ubiquitin from the E1 complex to specific E3 ligases, thereby targeting proteins for degradation via the proteasome or altering their function. UBE2D3 is involved in multiple cellular processes including cell cycle regulation, DNA repair, and signal transduction. It is widely expressed and plays a role in cancer and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | UBE2D3 overexpression may enhance ubiquitination of tumor suppressors, promoting oncogenesis. | PMID: 25605274 |
| Colorectal cancer | Altered UBE2D3 expression correlates with poor prognosis and increased proliferation. | PMID: 28397828 |
| Neurodegenerative disorders (e.g., Alzheimer's) | UBE2D3 interacts with E3 ligases that ubiquitinate tau and amyloid precursor protein, affecting clearance. | PMID: 21504829 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 15.8 | High |
| Kidney | 11.3 | Medium |
| Testis | 18.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 12.8 | Medium expression |
| MCF7 | 16.5 | High expression |
| HepG2 | 13.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Likely benign |
| c.214C>T | Nonsense | <0.001% | Loss of function |
| c.347G>A | Missense | 0.02% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.214C>T) lead to premature stop codons, resulting in truncated, non-functional protein.
Gain of Function (GOF)
Not well documented; no common gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative mutations described in literature.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • ATP binding (GO:0005524) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• p53 signaling pathway (KEGG: hsa04115)
• Parkinson disease (KEGG: hsa05012)
Protein Summary
UBE2D3 is a 147-amino acid protein (17 kDa) that functions as an E2 ubiquitin-conjugating enzyme. It accepts ubiquitin from the E1 activating enzyme and transfers it to substrate proteins via E3 ligases. The protein contains a conserved ubiquitin-conjugating (UBC) domain and is essential for ubiquitin chain elongation. UBE2D3 interacts with multiple E3 ligases including MDM2, BRCA1, and Parkin, linking it to cancer and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2D3 Knockout HEK293 Cell Line | EDJ-KQ50698 | Human | 7323 | Details Get a Quote |
| UBE2D3 Knockout HeLa Cell Line | EDJ-KQ54716 | Human | 7323 | Details Get a Quote |
| UBE2D3 Knockout A-549 Cell Line | EDJ-KQ63207 | Human | 7323 | Details Get a Quote |
| UBE2D3 Knockout HCT 116 Cell Line | EDJ-KQ71673 | Human | 7323 | Details Get a Quote |
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