UBE2N
Ubiquitin Conjugating Enzyme E2 N
Gene Information Card
| Symbol | UBE2N |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 N |
| Gene Type | Protein coding |
| Chromosomal Location | 12q22 |
| NCBI Gene ID | 7334 ncbi.nlm.nih.gov/gene/7334 |
| Ensembl ID | ENSG00000177889 |
| UniProt ID | P61088 |
| OMIM ID | 603679 |
| HGNC ID | 12492 |
| Aliases | UBC13, UbcH13, Ubc13B, UbcH-ben, MGC131928 |
Description
UBE2N (Ubiquitin Conjugating Enzyme E2 N) encodes a member of the E2 ubiquitin-conjugating enzyme family. It forms a heterodimer with UBE2V1 or UBE2V2 to catalyze the synthesis of non-canonical K63-linked polyubiquitin chains. This activity is critical for DNA damage repair (via the Fanconi anemia pathway and translesion synthesis), NF-kB signaling, and innate immune responses. UBE2N is essential for embryonic development and is implicated in various cancers and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi Anemia | UBE2N is required for FANCD2 monoubiquitination and DNA interstrand crosslink repair; deficiency impairs repair. | PMID: 17332740 |
| Breast Cancer | Overexpression of UBE2N correlates with poor prognosis; promotes NF-kB activation and cell proliferation. | PMID: 25605247 |
| Colorectal Cancer | UBE2N upregulation enhances Wnt/β-catenin signaling and tumor growth. | PMID: 29367642 |
| Inflammatory Bowel Disease | UBE2N-mediated K63 ubiquitination regulates NF-kB and MAPK pathways in intestinal inflammation. | PMID: 27559042 |
| Prostate Cancer | UBE2N knockdown reduces androgen receptor signaling and tumor progression. | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 52.3 | High |
| Lymph node | 38.1 | High |
| Bone marrow | 35.7 | High |
| Spleen | 32.9 | High |
| Brain | 18.4 | Medium |
| Liver | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Lung | 11.5 | Medium |
| Kidney | 10.3 | Medium |
| Pancreas | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 45.2 | High expression |
| HeLa | 38.7 | High expression |
| K562 | 42.1 | High expression |
| MCF7 | 30.5 | Medium expression |
| A549 | 28.3 | Medium expression |
| HepG2 | 22.6 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.209A>G (p.Lys70Arg) | Missense | 0.01% (COSMIC) | Impairs K63 ubiquitination activity; reduces NF-kB signaling |
| c.364C>T (p.Arg122Trp) | Missense | 0.005% (COSMIC) | Loss of E2 activity; defective DNA repair |
| c.1A>G (p.Met1Val) | Missense | <0.001% | Start codon loss; likely loss of function |
| c.458_459insA (p.Tyr153*) | Frameshift | <0.001% | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair K63 ubiquitination activity, such as p.Lys70Arg and p.Arg122Trp, lead to defective DNA repair and NF-kB signaling.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in UBE2N.
Dominant Negative (DN)
p.Lys70Arg can act as a dominant-negative by forming inactive heterodimers with UBE2V1/2.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin conjugating enzyme activity | • K63-linked polyubiquitin modification-dependent protein binding |
| • protein ubiquitination | • DNA repair |
| • NF-kappaB signaling | • response to DNA damage stimulus |
| • innate immune response | • positive regulation of I-kappaB kinase/NF-kappaB signaling |
Pathways
• Fanconi anemia pathway (KEGG: hsa03460)
• NF-kappa B signaling pathway (KEGG: hsa04064)
• RIG-I-like receptor signaling pathway (KEGG: hsa04622)
• NOD-like receptor signaling pathway (KEGG: hsa04621)
• TNF signaling pathway (KEGG: hsa04668)
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
Protein Summary
UBE2N (UBC13) is a 152-amino acid E2 ubiquitin-conjugating enzyme that exclusively catalyzes K63-linked polyubiquitin chains when complexed with UBE2V1 or UBE2V2. The protein contains a conserved ubiquitin-conjugating catalytic domain with an active-site cysteine (Cys87). It is essential for DNA damage tolerance via translesion synthesis and Fanconi anemia pathway, and for activation of NF-kB and MAPK signaling in response to cytokines and pathogens. UBE2N is widely expressed, with highest levels in testis and lymphoid tissues. Dysregulation contributes to cancer progression and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2NL Knockout HEK293 Cell Line | EDJ-KQ16005 | Human | 389898 | Details Get a Quote |
| UBE2NL Knockout A-549 Cell Line | EDJ-KQ47081 | Human | 389898 | Details Get a Quote |
| UBE2NL Knockout HCT 116 Cell Line | EDJ-KQ47082 | Human | 389898 | Details Get a Quote |
| UBE2NL Knockout HeLa Cell Line | EDJ-KQ47083 | Human | 389898 | Details Get a Quote |
