UBE2E3: Ubiquitin Conjugating Enzyme E2 E3
A key component of the ubiquitin-proteasome system involved in protein degradation and cellular signaling.
Gene Information Card
| Symbol | UBE2E3 |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 E3 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.3 |
| NCBI Gene ID | 10477 ncbi.nlm.nih.gov/gene/10477 |
| Ensembl ID | ENSG00000170035 |
| UniProt ID | Q969T4 |
| OMIM ID | 602916 |
| HGNC ID | 12487 |
| Aliases | UBE2E3, UbcM2, UBCH9, E2-20K |
Description
UBE2E3 encodes a member of the ubiquitin-conjugating enzyme (E2) family. This enzyme catalyzes the second step in ubiquitination, accepting ubiquitin from an E1 enzyme and transferring it to a target protein via an E3 ligase. UBE2E3 is involved in protein turnover, cell cycle regulation, and stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of ubiquitination pathways; UBE2E3 may influence tumor suppressor degradation | COSMIC; literature |
| Neurodegenerative disorders | Altered protein homeostasis; potential role in ubiquitin-proteasome system dysfunction | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown; predicted benign |
| c.454G>A (p.Glu152Lys) | Missense | <0.01% | Unknown; predicted tolerated |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; rare missense variants may impair ubiquitin conjugation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004842 - ubiquitin-protein transferase activity | • GO:0005524 - ATP binding |
| • GO:0006511 - ubiquitin-dependent protein catabolic process | • GO:0005634 - nucleus |
| • GO:0005737 - cytoplasm |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
UBE2E3 is a 207-amino acid protein (approximately 23 kDa) that functions as a ubiquitin-conjugating enzyme. It contains a conserved UBC domain and is involved in the ubiquitination of various substrates, including those targeted by RING-type E3 ligases. The protein is expressed in multiple tissues and plays roles in cell cycle control and stress response.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2E3 Knockout HEK293 Cell Line | EDJ-KQ50976 | Human | 10477 | Details Get a Quote |
| UBE2E3 Knockout HeLa Cell Line | EDJ-KQ55416 | Human | 10477 | Details Get a Quote |
| UBE2E3 Knockout A-549 Cell Line | EDJ-KQ63896 | Human | 10477 | Details Get a Quote |
| UBE2E3 Knockout HCT 116 Cell Line | EDJ-KQ72355 | Human | 10477 | Details Get a Quote |
| UBE2E3 Knockout HAP1 Cell Line | EDC08084 | Human | 10477 | Details Get a Quote |
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