UVRAG (UV Radiation Resistance Associated Gene)
Key regulator of autophagy, endosomal trafficking, and DNA repair
Gene Information Card
| Symbol | UVRAG |
|---|---|
| Full Name | UV radiation resistance associated gene |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.5 |
| NCBI Gene ID | 7405 ncbi.nlm.nih.gov/gene/7405 |
| Ensembl ID | ENSG00000109971 |
| UniProt ID | Q9P2Y5 |
| OMIM ID | 602493 |
| HGNC ID | 12640 |
| Aliases | VPS38, DHTX, p63 |
Description
UVRAG (UV radiation resistance associated) is a protein-coding gene that plays a critical role in autophagy, endosomal trafficking, and DNA damage repair. It functions as a component of the class III phosphatidylinositol 3-kinase (PI3K) complex, promoting autophagosome formation and maturation. UVRAG also facilitates endocytic trafficking and is involved in maintaining genomic stability. Mutations and altered expression of UVRAG have been implicated in various cancers and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of UVRAG impairs autophagy and promotes tumorigenesis | PMID: 16760925 |
| Breast cancer | Reduced UVRAG expression correlates with poor prognosis | PMID: 22952329 |
| Gastric cancer | UVRAG mutations disrupt autophagy and endosomal trafficking | PMID: 22411808 |
| Hepatocellular carcinoma | UVRAG downregulation associated with metastasis | PMID: 25636800 |
| Lung cancer | UVRAG variants linked to increased risk | PMID: 24013666 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Colon | 12.5 | High |
| Liver | 6.1 | Low |
| Lung | 9.8 | Medium |
| Breast | 7.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| HCT116 | 14.8 | Colorectal cancer cell line |
| A549 | 10.5 | Lung cancer cell line |
| HepG2 | 8.9 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Loss of function; truncation |
| c.1325A>G (p.Tyr442Cys) | Missense | 0.01% | Unknown functional impact |
| c.1661_1662del (p.Leu554fs) | Frameshift | Rare | Loss of function |
| c.203G>A (p.Arg68Gln) | Missense | 0.02% | Impaired autophagy |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or unstable protein, impairing autophagy and endosomal trafficking.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by disrupting PI3K complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • autophagy (GO:0006914) | • endosomal transport (GO:0016197) |
| • protein complex binding (GO:0032403) | • positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) |
| • DNA repair (GO:0006281) |
Pathways
• Autophagy - KEGG hsa04140
• Endocytosis - KEGG hsa04144
• PI3K/AKT signaling - Reactome R-HSA-1257604
Protein Summary
The UVRAG protein (UniProt Q9P2Y5) is a 699-amino acid polypeptide that contains a coiled-coil domain and a C-terminal domain involved in protein-protein interactions. It acts as a scaffold in the class III PI3K complex, promoting autophagosome formation and maturation. UVRAG also interacts with the endosomal sorting complexes required for transport (ESCRT) machinery to facilitate endocytic trafficking. Its role in DNA repair is mediated through interaction with the DNA-dependent protein kinase (DNA-PK) complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UVRAG Knockout HeLa Cell Line | EDJ-KQ78122 | Human | 7405 | Details Get a Quote |
| UVRAG Knockout HEK293 Cell Line | EDJ-KQ78123 | Human | 7405 | Details Get a Quote |
