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

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 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
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