VASN Gene: Vasorin – Structure, Function, and Clinical Significance
Comprehensive biomedical overview of the VASN gene, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | VASN |
|---|---|
| Full Name | vasorin |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 114990 ncbi.nlm.nih.gov/gene/114990 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q6EMK4 |
| OMIM ID | 615772 |
| HGNC ID | 18517 |
| Aliases | SLITL2, MGC45416 |
Description
VASN (vasorin) encodes a type I transmembrane protein that functions as a negative regulator of TGF-beta signaling. The protein binds TGF-beta and inhibits its activity, thereby modulating cell proliferation, differentiation, and extracellular matrix remodeling. VASN is implicated in vascular development, cancer progression, and fibrosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | VASN overexpression promotes tumor growth via TGF-beta pathway modulation | PMID: 25636800 |
| Colorectal cancer | VASN upregulation correlates with poor prognosis and metastasis | PMID: 28411376 |
| Renal fibrosis | VASN downregulation enhances TGF-beta signaling leading to fibrosis | PMID: 21930773 |
| Gastric cancer | VASN expression associated with tumor invasion and lymph node metastasis | PMID: 29345618 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Heart | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| A549 | 7.4 | Lung adenocarcinoma |
| HCT116 | 11.1 | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.1% | Loss of function |
| c.782G>A (p.Arg261His) | Missense | <0.1% | Unknown significance |
| c.1234_1235insA (p.Thr412Asnfs*5) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg349*, p.Thr412Asnfs*5) predicted to truncate the protein, impairing TGF-beta binding and regulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in VASN.
Dominant Negative (DN)
No dominant-negative mutations described for VASN.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • transforming growth factor beta receptor signaling pathway (GO:0007179) |
| • identical protein binding (GO:0042802) |
Pathways
• TGF-beta signaling pathway (Reactome: R-HSA-170834)
• Negative regulation of TGF-beta signaling (Reactome: R-HSA-2173793)
Protein Summary
Vasorin is a 673-amino-acid transmembrane glycoprotein with an N-terminal signal peptide, a large extracellular domain containing leucine-rich repeats, a transmembrane helix, and a short cytoplasmic tail. It binds TGF-beta1, -beta2, and -beta3, preventing their interaction with TGF-beta receptors, thereby inhibiting downstream SMAD signaling. Vasorin is expressed in various tissues, with highest levels in liver and kidney, and is implicated in cancer and fibrosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VASN Knockout HEK293 Cell Line | EDJ-KQ7501 | Human | 114990 | Details Get a Quote |
| VASN Knockout A-549 Cell Line | EDJ-KQ32760 | Human | 114990 | Details Get a Quote |
| VASN Knockout HCT 116 Cell Line | EDJ-KQ32761 | Human | 114990 | Details Get a Quote |
| VASN Knockout HeLa Cell Line | EDJ-KQ32762 | Human | 114990 | Details Get a Quote |
