VTN (Vitronectin)
Gene encoding the multifunctional glycoprotein vitronectin, involved in cell adhesion, complement regulation, and hemostasis.
Gene Information Card
| Symbol | VTN |
|---|---|
| Full Name | Vitronectin |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 7448 ncbi.nlm.nih.gov/gene/7448 |
| Ensembl ID | ENSG00000109072 |
| UniProt ID | P04004 |
| OMIM ID | 193190 |
| HGNC ID | 12724 |
| Aliases | VNT, S-protein, V75 |
Description
The VTN gene encodes vitronectin, a 75 kDa glycoprotein found in blood plasma and extracellular matrix. Vitronectin promotes cell adhesion and spreading, inhibits the membrane attack complex of complement, and regulates hemostasis by binding to plasminogen activator inhibitor-1 (PAI-1). It is expressed in liver, plasma, and various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Age-related macular degeneration (AMD) | VTN variants influence complement regulation in the retina, contributing to drusen formation. | ClinVar, OMIM |
| Thrombotic microangiopathy | Altered vitronectin levels may affect PAI-1 activity and clot stability. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 104.4 | High |
| Plasma | N/A (secreted) | High |
| Kidney | 12.3 | Medium |
| Lung | 8.7 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (hepatocellular carcinoma) | 98.5 | High expression |
| A549 (lung carcinoma) | 15.2 | Moderate expression |
| HEK293 (embryonic kidney) | 22.0 | Moderate expression |
| K562 (leukemia) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374G>A (p.Arg125His) | Missense | Rare | Alters PAI-1 binding affinity |
| c.1120C>T (p.Arg374Cys) | Missense | Rare | Associated with AMD risk |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in VTN are rare; reduced vitronectin levels may impair complement regulation.
Gain of Function (GOF)
Gain-of-function variants have not been well characterized.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • integrin binding (GO:0005178) | • protein binding (GO:0005515) |
| • cell adhesion (GO:0007155) | • complement activation (GO:0006956) |
| • extracellular matrix organization (GO:0030198) |
Pathways
• Complement and coagulation cascades (KEGG hsa04610)
• Integrin signaling pathway
• PAI-1 regulation of fibrinolysis
Protein Summary
Vitronectin is a secreted glycoprotein that circulates in plasma and is deposited in the extracellular matrix. It contains an RGD (Arg-Gly-Asp) motif that mediates cell adhesion via integrin receptors, a somatomedin B domain that binds PAI-1, and a heparin-binding domain. It inhibits complement-mediated cell lysis by binding to the C5b-7 complex. Vitronectin is implicated in age-related macular degeneration, thrombosis, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VTN Knockout HEK293 Cell Line | EDJ-KQ276 | Human | 7448 | Details Get a Quote |
| VTN Knockout A-549 Cell Line | EDJ-KQ19697 | Human | 7448 | Details Get a Quote |
| VTN Knockout HeLa Cell Line | EDJ-KQ19699 | Human | 7448 | Details Get a Quote |
| VTN Knockout HCT 116 Cell Line | EDJ-KQ71700 | Human | 7448 | Details Get a Quote |
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