ILRUN Gene
Inflammation and Lipid Regulator with UBA-like and NBR1-like Domains
Gene Information Card
| Symbol | ILRUN |
|---|---|
| Full Name | Inflammation and Lipid Regulator with UBA-like and NBR1-like Domains |
| Gene Type | Protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000204301 |
| UniProt ID | Q6ZMP0 |
| OMIM ID | 617955 |
| HGNC ID | 44038 |
| Aliases | C6orf106, dJ30M3.3 |
Description
ILRUN (Inflammation and Lipid Regulator with UBA-like and NBR1-like Domains) is a protein-coding gene located on chromosome 6p21.31. It encodes a protein involved in the regulation of inflammatory responses and lipid metabolism. The protein contains a ubiquitin-associated (UBA) domain and a region similar to NBR1, suggesting roles in autophagy and ubiquitin signaling. ILRUN has been implicated in modulating cytokine production and lipid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coronary Artery Disease | Altered lipid regulation and inflammatory signaling | GWAS association (PMID: 29212778) |
| Inflammatory Bowel Disease | Modulation of cytokine expression | Genetic association studies (PMID: 28067908) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | Medium |
| Adipose Tissue | 12.8 | Medium |
| Whole Blood | 8.5 | Low |
| Small Intestine | 10.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.3 | Hepatocellular carcinoma |
| THP-1 | 14.7 | Monocytic leukemia |
| HeLa | 9.2 | Cervical adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11385942 | SNV | 0.15 (GnomAD) | Intronic, potential regulatory effect |
| rs117026326 | SNV | 0.02 (GnomAD) | Missense, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
Pathways
• Lipid metabolism and inflammation (Reactome: R-HSA-556833)
• Autophagy (KEGG: hsa04140)
Protein Summary
The ILRUN protein (UniProt Q6ZMP0) is 447 amino acids long and contains an N-terminal UBA domain and a C-terminal region with similarity to NBR1. It is localized in the cytoplasm and nucleus. The protein interacts with ubiquitin and may function as an adaptor in selective autophagy and inflammatory signaling. Expression is enriched in liver and adipose tissue, consistent with roles in lipid metabolism and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ILRUN Knockout HEK293 Cell Line | EDJ-KQ13830 | Human | 64771 | Details Get a Quote |
| ILRUN Knockout HCT 116 Cell Line | EDJ-KQ42385 | Human | 64771 | Details Get a Quote |
| ILRUN Knockout A-549 Cell Line | EDJ-KQ43654 | Human | 64771 | Details Get a Quote |
| ILRUN Knockout HeLa Cell Line | EDJ-KQ43656 | Human | 64771 | Details Get a Quote |
