VIT Gene: Vitrin
Comprehensive genomic and proteomic analysis of the VIT gene, including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | VIT |
|---|---|
| Full Name | vitrin |
| Gene Type | protein-coding |
| Chromosomal Location | 2p22.2 |
| NCBI Gene ID | 5212 ncbi.nlm.nih.gov/gene/5212 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9BQY4 |
| OMIM ID | 608570 |
| HGNC ID | 12695 |
| Aliases | VIT1, vitrin |
Description
The VIT gene encodes vitrin, an extracellular matrix protein that may play a role in cell adhesion and tissue organization. It is expressed in various tissues, particularly in the eye and cartilage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vitreoretinopathy | Altered extracellular matrix composition | OMIM #608570 |
| Retinal detachment | Potential structural weakness in vitreous | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Eye (retina) | 12.5 | Medium |
| Cartilage | 8.3 | Low |
| Lung | 6.1 | Low |
| Heart | 4.2 | Low |
| Brain | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.2 | Moderate expression |
| HUVEC (endothelial) | 7.8 | Low expression |
| HeLa | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Loss of function |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg109* leads to premature termination and likely loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • cell adhesion |
| • extracellular region | • protein binding |
Pathways
• Extracellular matrix organization
• Cell adhesion molecules (CAMs)
Protein Summary
Vitrin is a 673-amino acid extracellular matrix protein with a signal peptide and multiple von Willebrand factor type A domains. It is involved in cell-matrix interactions and may contribute to the structural integrity of the vitreous humor and cartilage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VIT Knockout HEK293 Cell Line | EDJ-KQ5446 | Human | 5212 | Details Get a Quote |
| VIT Knockout HeLa Cell Line | EDJ-KQ54124 | Human | 5212 | Details Get a Quote |
| VIT Knockout A-549 Cell Line | EDJ-KQ62613 | Human | 5212 | Details Get a Quote |
| VIT Knockout HCT 116 Cell Line | EDJ-KQ71086 | Human | 5212 | Details Get a Quote |
