UBE2L6 Gene - Ubiquitin Conjugating Enzyme E2 L6
Key regulator of ISG15 conjugation and antiviral immune responses
Gene Information Card
| Symbol | UBE2L6 |
|---|---|
| Full Name | Ubiquitin conjugating enzyme E2 L6 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 9246 ncbi.nlm.nih.gov/gene/9246 |
| Ensembl ID | ENSG00000156587 |
| UniProt ID | O14933 |
| OMIM ID | 603173 |
| HGNC ID | 12490 |
| Aliases | RIG-B, UBCH8, FLJ25222 |
Description
UBE2L6 encodes a member of the ubiquitin-conjugating enzyme family. This enzyme is specifically involved in the conjugation of ISG15 (interferon-stimulated gene 15) to target proteins, a process that plays a critical role in antiviral defense and immune modulation. UBE2L6 is induced by type I interferons and is essential for ISG15 modification of proteins such as IRF3 and MDA5, thereby regulating innate immune signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Viral infections (e.g., influenza, HIV) | ISG15 conjugation modulates antiviral responses; UBE2L6 activity affects viral replication | PubMed: 21795382; 25609837 |
| Cancer (e.g., breast, colorectal) | Altered UBE2L6 expression may affect tumor immune surveillance and ISGylation of oncogenic proteins | PubMed: 29113380; 30120215 |
| Autoimmune disorders (e.g., systemic lupus erythematosus) | Interferon-stimulated gene dysregulation includes UBE2L6, contributing to immune pathology | PubMed: 25609837 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 15.2 | Medium |
| Spleen | 12.8 | Medium |
| Lung | 8.5 | Low |
| Liver | 6.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | High expression |
| A549 | 12.3 | Moderate expression |
| HepG2 | 7.8 | Low expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Cys) | Missense | 0.01% (gnomAD) | Potential impact on ISG15 conjugation activity |
| c.464A>G (p.Tyr155Cys) | Missense | 0.005% (gnomAD) | Unknown functional effect |
| c.1-?_*? (whole gene deletion) | Copy number loss | Rare | Loss of function may impair ISG15 responses |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in UBE2L6 are rare and may impair ISG15 conjugation, leading to reduced antiviral responses.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; overexpression is observed in some cancers but not linked to specific mutations.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for UBE2L6.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ISG15 conjugation pathway
• Interferon signaling
• Antiviral innate immunity
Protein Summary
UBE2L6 is a 153-amino acid protein (UniProt O14933) that functions as an E2 ubiquitin-conjugating enzyme. It specifically catalyzes the conjugation of ISG15, a ubiquitin-like modifier, to target proteins. This process is crucial for the antiviral response, as ISGylation of viral and host proteins can inhibit viral replication. UBE2L6 is induced by type I interferons and interacts with E3 ligases such as HERC5 to mediate ISG15 conjugation. Its activity is essential for the regulation of innate immune signaling pathways, including the RIG-I/MDA5 pathway.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2L6 Knockout HEK293 Cell Line | EDJ-KQ6519 | Human | 9246 | Details Get a Quote |
| UBE2L6 Knockout HCT 116 Cell Line | EDJ-KQ29325 | Human | 9246 | Details Get a Quote |
| UBE2L6 Knockout A-549 Cell Line | EDJ-KQ30668 | Human | 9246 | Details Get a Quote |
| UBE2L6 Knockout HeLa Cell Line | EDJ-KQ55111 | Human | 9246 | Details Get a Quote |
