UBE2NL Gene: Function, Expression, and Disease Associations
Comprehensive resource for UBE2NL (ubiquitin conjugating enzyme E2 N like) including genomic data, expression, and potential implications.
Gene Information Card
| Symbol | UBE2NL |
|---|---|
| Full Name | ubiquitin conjugating enzyme E2 N like (gene/pseudogene) |
| Gene Type | gene with protein product |
| Chromosomal Location | Xq27.3 |
| NCBI Gene ID | 389898 ncbi.nlm.nih.gov/gene/389898 |
| Ensembl ID | ENSG00000276380 |
| UniProt ID | Q5JXB2 |
| OMIM ID | Not available |
| HGNC ID | HGNC:31710 |
| Aliases | Not available |
Description
UBE2NL is a gene located on the X chromosome at Xq27.3. It is classified as a gene with protein product, though it is also noted as a gene/pseudogene. The gene encodes a ubiquitin conjugating enzyme E2 N-like protein, which may be involved in ubiquitin-mediated protein degradation pathways. However, its specific functions and clinical significance are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | No known disease association | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Not available |
| Other tissues | Not available | Not available |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Not available | Not available | No data |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Not available | Not available | Not available | Not available |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data:
Protein Summary
The UBE2NL gene encodes a protein that is predicted to be a ubiquitin-conjugating enzyme (E2), which plays a role in the ubiquitin-proteasome system. However, the exact function and substrates of this protein are not well characterized. Further studies are needed to elucidate its biological role.
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 |