UBE2D2 Gene - Ubiquitin Conjugating Enzyme E2 D2
Comprehensive genomic and functional annotation of UBE2D2, a key E2 ubiquitin-conjugating enzyme involved in protein degradation and cellular signaling.
Gene Information Card
| Symbol | UBE2D2 |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 D2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 7322 ncbi.nlm.nih.gov/gene/7322 |
| Ensembl ID | ENSG00000131508 |
| UniProt ID | P62837 |
| OMIM ID | 602962 |
| HGNC ID | 12477 |
| Aliases | UBCH5B, E2(17)KB2, UBC4, UBC5B |
Description
UBE2D2 (Ubiquitin Conjugating Enzyme E2 D2) 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, accepting ubiquitin from the E1 complex and transferring it to target proteins via E3 ligases. UBE2D2 plays a critical role in protein degradation, cell cycle control, DNA repair, and signal transduction. It is widely expressed and functions in multiple cellular pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | UBE2D2 overexpression may enhance ubiquitination of tumor suppressors, promoting oncogenesis. | PMID: 23431136 |
| Colorectal cancer | Altered UBE2D2 expression linked to dysregulated Wnt/β-catenin signaling. | PMID: 25605248 |
| Neurodegenerative disorders | Impaired ubiquitination by UBE2D2 variants may contribute to protein aggregation. | PMID: 21549339 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 22.3 | High |
| Bone marrow | 18.7 | Medium |
| Brain | 12.1 | Medium |
| Liver | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.4 | High expression |
| HeLa | 20.1 | High expression |
| K562 | 15.6 | Medium expression |
| MCF7 | 12.3 | Medium expression |
| HepG2 | 10.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.208G>A (p.Glu70Lys) | Missense | <0.01% | Unknown functional effect |
| c.364C>T (p.Arg122Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the start codon or catalytic residues likely impair ubiquitin conjugation activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• p53 signaling pathway (KEGG: hsa04115)
• TNF signaling pathway (KEGG: hsa04668)
• NF-kappa B signaling pathway (KEGG: hsa04064)
Protein Summary
The UBE2D2 protein (UniProt P62837) is a 147-amino acid E2 ubiquitin-conjugating enzyme with a conserved catalytic cysteine residue (Cys85) that forms a thioester bond with ubiquitin. It is highly conserved across eukaryotes and interacts with multiple E3 ligases, including RING finger and HECT domain proteins. UBE2D2 is essential for ubiquitin chain elongation and substrate specificity. Its structure includes a central alpha/beta fold typical of E2 enzymes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2D2 Knockout HEK293 Cell Line | EDJ-KQ5989 | Human | 7322 | Details Get a Quote |
| UBE2D2 Knockout A-549 Cell Line | EDJ-KQ29573 | Human | 7322 | Details Get a Quote |
| UBE2D2 Knockout HCT 116 Cell Line | EDJ-KQ29574 | Human | 7322 | Details Get a Quote |
| UBE2D2 Knockout HeLa Cell Line | EDJ-KQ29575 | Human | 7322 | Details Get a Quote |
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