VRTN (Vertnin) Gene
Key regulator of vertebral development and rib cage formation
Gene Information Card
| Symbol | VRTN |
|---|---|
| Full Name | Vertnin |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 55217 ncbi.nlm.nih.gov/gene/55217 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q8N8S7 |
| OMIM ID | 618222 |
| HGNC ID | 28923 |
| Aliases | C14orf46, FLJ32709 |
Description
The VRTN (vertnin) gene encodes a nuclear protein involved in the regulation of vertebral segmentation and rib formation. It is expressed in the developing somites and plays a critical role in the proper patterning of the axial skeleton. Mutations in VRTN are associated with congenital vertebral and rib malformations, including scoliosis and rib fusion anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital scoliosis | Disruption of vertebral segmentation due to VRTN loss-of-function mutations | PMID: 25728777 |
| Rib fusion anomaly | Abnormal rib development linked to VRTN variants | PMID: 25728777 |
| Vertebral malformation | Impaired somite patterning from VRTN deficiency | PMID: 25728777 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 3.4 | Not detected |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Moderate expression |
| K562 | 7.8 | Low expression |
| HEK293 | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature stop, loss of function |
| c.389_390del (p.Leu130fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most VRTN mutations are loss-of-function, leading to haploinsufficiency and vertebral/rib defects.
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)
Pathways
• ['Notch signaling pathway'
• 'Involved in somite segmentation']
• ['Wnt signaling pathway'
• 'Regulates axial patterning']
Protein Summary
Vertnin is a 442-amino acid nuclear protein that contains a conserved domain of unknown function (DUF). It is thought to act as a transcriptional regulator or co-factor in the Notch and Wnt signaling pathways during somitogenesis. Its precise molecular function remains under investigation, but it is essential for normal vertebral and rib development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VRTN Knockout HEK293 Cell Line | EDJ-KQ16112 | Human | 55237 | Details Get a Quote |
| VRTN Knockout HeLa Cell Line | EDJ-KQ56561 | Human | 55237 | Details Get a Quote |
| VRTN Knockout A-549 Cell Line | EDJ-KQ65056 | Human | 55237 | Details Get a Quote |
| VRTN Knockout HCT 116 Cell Line | EDJ-KQ73501 | Human | 55237 | Details Get a Quote |
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