UBE2B
Ubiquitin Conjugating Enzyme E2 B
Gene Information Card
| Symbol | UBE2B |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 B |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 7320 ncbi.nlm.nih.gov/gene/7320 |
| Ensembl ID | ENSG00000119048 |
| UniProt ID | P63146 |
| OMIM ID | 179095 |
| HGNC ID | 12479 |
| Aliases | RAD6B, HHR6B, UBC2 |
Description
UBE2B encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is essential for ubiquitin-mediated protein degradation and plays a critical role in DNA repair, particularly in post-replication repair and the Fanconi anemia pathway. UBE2B interacts with the E3 ligase RAD18 to monoubiquitinate PCNA, facilitating translesion synthesis. It also participates in histone H2B ubiquitination, influencing chromatin dynamics and gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia | Defective DNA repair due to impaired UBE2B function contributes to genomic instability | OMIM 179095; ClinVar |
| Breast cancer | Altered UBE2B expression may affect DNA repair capacity and tumorigenesis | NCBI Gene; COSMIC |
| Prostate cancer | UBE2B variants associated with increased risk | COSMIC; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Bone marrow | 8.2 | Medium |
| Lymph node | 7.1 | Medium |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| MCF7 | 8.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Potential loss of function |
| c.214C>T | Nonsense | 0.005% | Truncated protein, likely loss of function |
| c.367G>A | Missense | 0.02% | Altered enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the active site cysteine lead to loss of ubiquitin-conjugating activity.
Gain of Function (GOF)
Not well documented; no common gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations that retain binding but impair catalytic activity may act in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004842 - ubiquitin-protein transferase activity | • GO:0005515 - protein binding |
| • GO:0006281 - DNA repair | • GO:0006511 - ubiquitin-dependent protein catabolic process |
| • GO:0016567 - protein ubiquitination | • GO:0070531 - histone H2B ubiquitination |
Pathways
• Fanconi anemia pathway (KEGG hsa03460)
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• Translesion synthesis (Reactome R-HSA-110313)
Protein Summary
UBE2B (RAD6B) is a 152-amino acid protein with a conserved ubiquitin-conjugating catalytic domain. It forms a complex with E3 ligases such as RAD18 and RNF20/RNF40 to monoubiquitinate PCNA and histone H2B, respectively. This protein is essential for error-prone DNA repair and chromatin regulation. Its structure includes an active site cysteine (Cys88) that forms a thioester bond with ubiquitin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2B Knockout HEK293 Cell Line | EDJ-KQ5988 | Human | 7320 | Details Get a Quote |
| UBE2B Knockout A-549 Cell Line | EDJ-KQ29566 | Human | 7320 | Details Get a Quote |
| UBE2B Knockout HCT 116 Cell Line | EDJ-KQ29567 | Human | 7320 | Details Get a Quote |
| UBE2B Knockout HeLa Cell Line | EDJ-KQ29568 | Human | 7320 | Details Get a Quote |
| UBE2B Knockout HAP1 Cell Line | EDC09501 | Human | 7320 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
