UBE2G2: Ubiquitin Conjugating Enzyme E2 G2
A key component of the ubiquitin-proteasome system involved in protein degradation and cellular homeostasis.
Gene Information Card
| Symbol | UBE2G2 |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 G2 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 7327 ncbi.nlm.nih.gov/gene/7327 |
| Ensembl ID | ENSG00000160221 |
| UniProt ID | P60604 |
| OMIM ID | 603054 |
| HGNC ID | 12480 |
| Aliases | UBC7, E2G2, UBE2G |
Description
UBE2G2 encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme catalyzes the second step in ubiquitin conjugation, accepting ubiquitin from an E1 activating enzyme and transferring it to a substrate lysine residue, often in conjunction with an E3 ligase. UBE2G2 is specifically involved in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins, playing a critical role in protein quality control and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered UBE2G2 expression may disrupt ERAD, leading to accumulation of oncogenic proteins or impaired tumor suppressor turnover. | COSMIC database reports somatic mutations in various cancers; expression changes observed in breast, lung, and colorectal tumors. |
| Neurodegenerative disorders | Defective ERAD due to UBE2G2 variants can cause aggregation of misfolded proteins, contributing to neurodegeneration. | ClinVar lists variants associated with neurological phenotypes; studies link UBE2G2 to Alzheimer's and Parkinson's disease pathways. |
| Endoplasmic reticulum stress-related diseases | Impaired UBE2G2 function exacerbates ER stress, potentially leading to cell death and tissue damage. | Experimental models show UBE2G2 knockdown increases ER stress markers and apoptosis. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Heart | 10.1 | Medium |
| Kidney | 9.4 | Medium |
| Lung | 7.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.3 | Embryonic kidney; high expression |
| HeLa | 14.7 | Cervical carcinoma; moderate expression |
| HepG2 | 12.1 | Hepatocellular carcinoma; moderate expression |
| A549 | 9.8 | Lung carcinoma; moderate expression |
| K562 | 6.5 | Leukemia; 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% | Likely loss of start codon; predicted loss of function |
| c.316G>A (p.Glu106Lys) | Missense | <0.01% | Substitution in conserved domain; uncertain significance |
| c.427C>T (p.Arg143Trp) | Missense | <0.01% | May affect protein stability; reported in ClinVar |
| c.544_546del (p.Lys182del) | Deletion | <0.01% | In-frame deletion; potential impact on ubiquitin binding |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the active site or ubiquitin binding (e.g., start codon loss, deletions in catalytic domain) impair ubiquitin conjugation, leading to defective ERAD and protein aggregation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; overexpression studies suggest increased ubiquitination may alter substrate turnover.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg143Trp) may interfere with E2-E3 interactions, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • ATP binding (GO:0005524) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • ubiquitin-dependent ERAD pathway (GO:0030433) |
| • endoplasmic reticulum (GO:0005783) | • cytosol (GO:0005829) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Endoplasmic reticulum-associated degradation (ERAD) (Reactome: R-HSA-983168)
• Antigen processing: Ubiquitination & Proteasome degradation (Reactome: R-HSA-983169)
Protein Summary
UBE2G2 is a 165-amino acid protein (18 kDa) that functions as an E2 ubiquitin-conjugating enzyme. It contains a conserved UBC domain responsible for ubiquitin thioester formation. The protein localizes to the endoplasmic reticulum and cytosol, where it interacts with E3 ligases (e.g., gp78, RNF5) to ubiquitinate misfolded proteins for proteasomal degradation. UBE2G2 is essential for ERAD and cellular protein homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2G2 Knockout HEK293 Cell Line | EDJ-KQ3119 | Human | 7327 | Details Get a Quote |
| UBE2G2 Knockout A-549 Cell Line | EDJ-KQ24470 | Human | 7327 | Details Get a Quote |
| UBE2G2 Knockout HCT 116 Cell Line | EDJ-KQ24471 | Human | 7327 | Details Get a Quote |
| UBE2G2 Knockout HeLa Cell Line | EDJ-KQ24472 | Human | 7327 | Details Get a Quote |
