VANGL2 Gene: Planar Cell Polarity Protein
Key regulator of Wnt/PCP signaling in development and disease
Gene Information Card
| Symbol | VANGL2 |
|---|---|
| Full Name | VANGL planar cell polarity protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.2 |
| NCBI Gene ID | 57216 ncbi.nlm.nih.gov/gene/57216 |
| Ensembl ID | ENSG00000162738 |
| UniProt ID | Q9ULK5 |
| OMIM ID | 600533 |
| HGNC ID | 15511 |
| Aliases | STB1, LPP1, VANGL2, KIAA1215 |
Description
VANGL2 encodes a member of the VANGL family of proteins, which are integral components of the Wnt/planar cell polarity (PCP) signaling pathway. This protein is involved in establishing cell polarity during embryonic development, particularly in neural tube closure, cochlear hair cell orientation, and convergent extension movements. Mutations in VANGL2 are associated with neural tube defects and other developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects (NTDs) | Loss-of-function mutations disrupt PCP signaling, impairing convergent extension and neural tube closure | OMIM #600533; PMID: 20602914 |
| Spina bifida | VANGL2 variants reduce protein function, leading to incomplete neural tube closure | ClinVar; PMID: 22995991 |
| Craniorachischisis | Homozygous or compound heterozygous mutations cause severe NTDs | OMIM; PMID: 20602914 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Kidney | 4.1 | Low |
| Liver | 2.5 | Not detected |
| Lung | 6.0 | Low |
| Placenta | 7.3 | Low |
| Testis | 9.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Low expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.1 | Not detected |
| SH-SY5Y | 6.8 | 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 | Loss of function; associated with NTDs |
| c.832C>T (p.Arg278Cys) | Missense | Rare | Impaired PCP signaling |
| c.1000G>A (p.Gly334Ser) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly116Arg) disrupt VANGL2 membrane localization and PCP signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some variants may act dominant-negative by interfering with wild-type VANGL2 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt/Planar Cell Polarity (PCP) pathway
• Neural tube closure pathway
Protein Summary
VANGL2 is a four-pass transmembrane protein that localizes to the plasma membrane and interacts with other PCP core proteins such as Vangl1, Prickle, and Dishevelled. It is essential for asymmetric cell polarization during development. The protein contains a PDZ-binding motif at its C-terminus that mediates interactions with downstream effectors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VANGL2 Knockout HEK293 Cell Line | EDJ-KQ16090 | Human | 57216 | Details Get a Quote |
| VANGL2 Knockout A-549 Cell Line | EDJ-KQ47234 | Human | 57216 | Details Get a Quote |
| VANGL2 Knockout HCT 116 Cell Line | EDJ-KQ47235 | Human | 57216 | Details Get a Quote |
| VANGL2 Knockout HeLa Cell Line | EDJ-KQ56825 | Human | 57216 | Details Get a Quote |
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