UBE2E2 Gene - Ubiquitin Conjugating Enzyme E2 E2
Comprehensive biomedical resource for UBE2E2: genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | UBE2E2 |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 E2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p24.3 |
| NCBI Gene ID | 7325 ncbi.nlm.nih.gov/gene/7325 |
| Ensembl ID | ENSG00000170144 |
| UniProt ID | Q96LR5 |
| OMIM ID | 602999 |
| HGNC ID | 12478 |
| Aliases | UBE2E2, UBCH8, UbcM2, E2-25K |
Description
UBE2E2 (Ubiquitin Conjugating Enzyme E2 E2) is a protein-coding gene that encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein catalyzes the second step of ubiquitination, transferring ubiquitin from the E1 complex to a lysine residue on the target protein. UBE2E2 is involved in protein degradation, cell cycle regulation, and DNA repair. It is widely expressed in various tissues and has been implicated in several cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Impaired insulin signaling and beta-cell dysfunction; UBE2E2 variants associated with altered glucose homeostasis. | GWAS (PMID: 24509480) |
| Breast Cancer | Dysregulation of ubiquitin-proteasome pathway; UBE2E2 overexpression linked to poor prognosis. | COSMIC (Catalogue of Somatic Mutations in Cancer) |
| Colorectal Cancer | Altered ubiquitination of tumor suppressors; UBE2E2 mutations found in tumor samples. | COSMIC (Catalogue of Somatic Mutations in Cancer) |
| Prostate Cancer | Potential role in androgen receptor signaling; UBE2E2 expression changes in metastatic tissue. | NCBI Gene (7325) - GeneCards |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Thyroid | 8.2 | Medium |
| Adrenal Gland | 7.1 | Medium |
| Liver | 6.8 | Medium |
| Brain | 5.3 | Low |
| Heart | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 11.8 | Moderate expression in cervical cancer cells |
| MCF7 | 9.5 | Moderate expression in breast cancer cells |
| HepG2 | 7.3 | Low expression in liver cancer cells |
| K562 | 6.1 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.0012 (gnomAD) | Altered ubiquitin transfer activity; potential loss of function |
| c.454G>A (p.Glu152Lys) | Missense | 0.0008 (gnomAD) | Reduced E2 enzyme activity; associated with type 2 diabetes risk |
| c.123_124insA (p.Glu42Argfs*19) | Frameshift | <0.0001 (COSMIC) | Loss of function; truncation of catalytic domain |
| c.789C>T (p.Ser263=) | Synonymous | 0.0035 (gnomAD) | No known functional effect; silent variant |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense variants (e.g., p.Arg113Trp, p.Glu152Lys) reduce or abolish ubiquitin-conjugating activity, impairing protein degradation pathways.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence of dominant-negative effects in current literature or databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Cell cycle (Reactome: R-HSA-1640170)
Protein Summary
The UBE2E2 protein (UniProt Q96LR5) is a 183-amino acid ubiquitin-conjugating enzyme (E2) with a conserved catalytic domain. It accepts ubiquitin from the E1 activating enzyme and transfers it to target proteins via an E3 ligase. UBE2E2 is involved in ubiquitin-dependent proteasomal degradation, cell cycle progression, and DNA repair. Its expression is highest in testis and thyroid, and it is implicated in type 2 diabetes and multiple cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2E2 Knockout HEK293 Cell Line | EDJ-KQ5992 | Human | 7325 | Details Get a Quote |
| UBE2E2 Knockout A-549 Cell Line | EDJ-KQ29578 | Human | 7325 | Details Get a Quote |
| UBE2E2 Knockout HCT 116 Cell Line | EDJ-KQ29579 | Human | 7325 | Details Get a Quote |
| UBE2E2 Knockout HeLa Cell Line | EDJ-KQ29580 | Human | 7325 | Details Get a Quote |
