UBE2J2 Gene - Ubiquitin Conjugating Enzyme E2 J2
Comprehensive genomic and functional annotation of UBE2J2, a member of the ubiquitin-conjugating enzyme family involved in protein degradation and endoplasmic reticulum-associated degradation (ERAD).
Gene Information Card
| Symbol | UBE2J2 |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 J2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 118424 ncbi.nlm.nih.gov/gene/118424 |
| Ensembl ID | ENSG00000160087 |
| UniProt ID | P62837 |
| OMIM ID | 612847 |
| HGNC ID | 20285 |
| Aliases | NCUBE-2, UBC6, UBC6P, UBE2J1, CGI-76 |
Description
UBE2J2 encodes a member of the ubiquitin-conjugating (E2) enzyme family. The encoded protein is localized to the endoplasmic reticulum (ER) membrane and functions in the ubiquitination of proteins targeted for ER-associated degradation (ERAD). It accepts ubiquitin from the E1 complex and transfers it to substrate proteins via E3 ligases, playing a critical role in protein quality control and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Impaired ERAD due to UBE2J2 dysfunction leads to accumulation of misfolded proteins, contributing to neuronal toxicity. | PubMed, OMIM |
| Cancer (breast, colorectal) | Altered UBE2J2 expression may affect degradation of oncoproteins or tumor suppressors, influencing cell proliferation. | COSMIC, PubMed |
| Endoplasmic reticulum stress-related diseases | Defective ubiquitination by UBE2J2 exacerbates ER stress, linked to metabolic and inflammatory conditions. | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | High |
| Brain (cerebellum) | 12.3 | Medium |
| Liver | 9.8 | Medium |
| Heart | 7.2 | Medium |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 12.4 | Medium expression |
| K562 | 8.7 | Medium expression |
| A549 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% (gnomAD) | Unknown; predicted possibly damaging |
| c.454G>A (p.Val152Met) | Missense | <0.01% (gnomAD) | Unknown; predicted benign |
| c.1A>G (p.Met1Val) | Start loss | <0.01% (gnomAD) | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein translation, reducing ERAD capacity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • endoplasmic reticulum (GO:0005783) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
| • protein ubiquitination (GO:0016567) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Endoplasmic reticulum-associated degradation (ERAD) (Reactome: R-HSA-9010553)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
UBE2J2 is a 246-amino acid ubiquitin-conjugating enzyme anchored to the ER membrane via a C-terminal transmembrane domain. It transfers ubiquitin from the E1 enzyme to substrate proteins in complex with E3 ligases, facilitating their degradation by the proteasome. The protein is essential for ERAD, maintaining cellular proteostasis, and its dysfunction is implicated in neurodegeneration and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2J2 Knockout HEK293 Cell Line | EDJ-KQ6948 | Human | 118424 | Details Get a Quote |
| UBE2J2 Knockout A-549 Cell Line | EDJ-KQ32953 | Human | 118424 | Details Get a Quote |
| UBE2J2 Knockout HCT 116 Cell Line | EDJ-KQ32955 | Human | 118424 | Details Get a Quote |
| UBE2J2 Knockout HeLa Cell Line | EDJ-KQ32956 | Human | 118424 | Details Get a Quote |
