VANGL1 Gene: Planar Cell Polarity Protein
Key regulator of Wnt/PCP signaling and neural tube development
Gene Information Card
| Symbol | VANGL1 |
|---|---|
| Full Name | VANGL planar cell polarity protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.1 |
| NCBI Gene ID | 81839 ncbi.nlm.nih.gov/gene/81839 |
| Ensembl ID | ENSG00000173218 |
| UniProt ID | Q8TAA9 |
| OMIM ID | 610132 |
| HGNC ID | 15512 |
| Aliases | STB1, VANGL1, KITENIN |
Description
VANGL1 (Vang-like protein 1) is a core component of the planar cell polarity (PCP) pathway, essential for establishing tissue polarity during development. It encodes a four-pass transmembrane protein that interacts with other PCP components such as Dishevelled and Prickle to regulate convergent extension movements and neural tube closure. Mutations in VANGL1 are associated with neural tube defects (NTDs) including spina bifida and anencephaly, as well as susceptibility to caudal regression syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects (spina bifida, anencephaly) | Loss-of-function mutations disrupt PCP signaling, impairing neural tube closure | OMIM, ClinVar |
| Caudal regression syndrome | Missense variants reduce VANGL1 function, affecting caudal development | OMIM |
| Susceptibility to tethered cord syndrome | Altered PCP signaling due to VANGL1 variants | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Spinal cord | 7.2 | Medium |
| Heart | 4.1 | Low |
| Kidney | 3.8 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.3 | High expression |
| HeLa (cervical carcinoma) | 6.7 | Moderate expression |
| HEK293 (embryonic kidney) | 5.4 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346G>A (p.Gly116Arg) | Missense | Rare | Reduced protein stability and PCP signaling |
| c.905C>T (p.Pro302Leu) | Missense | Rare | Impaired interaction with Dishevelled |
| c.1240C>T (p.Arg414Cys) | Missense | Rare | Loss of function, associated with NTDs |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly116Arg, p.Arg414Cys) reduce VANGL1 protein stability or disrupt interactions with PCP pathway components, leading to impaired planar cell polarity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for VANGL1.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by interfering with wild-type VANGL1 function in PCP complexes.
View complete mutation data：
Gene Ontology (GO)
| • establishment of planar polarity (GO:0001736) | • signal transduction (GO:0007165) |
| • Wnt signaling pathway (GO:0016055) | • plasma membrane (GO:0005886) |
| • synapse (GO:0045202) |
Pathways
• Planar cell polarity (PCP) pathway
• Wnt/PCP signaling pathway
• Neural tube closure pathway
Protein Summary
VANGL1 is a 524-amino acid transmembrane protein with four membrane-spanning domains. It localizes to the plasma membrane and interacts with Dishevelled, Prickle, and other PCP components to coordinate cell polarity and movement during embryonic development. The protein is highly expressed in the developing neural tube and central nervous system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VANGL1 Knockout HEK293 Cell Line | EDJ-KQ345 | Human | 81839 | Details Get a Quote |
| VANGL1 Knockout A-549 Cell Line | EDJ-KQ18526 | Human | 81839 | Details Get a Quote |
| VANGL1 Knockout HCT 116 Cell Line | EDJ-KQ18527 | Human | 81839 | Details Get a Quote |
| VANGL1 Knockout HeLa Cell Line | EDJ-KQ18528 | Human | 81839 | Details Get a Quote |
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