DVL2 Gene - Dishevelled Segment Polarity Protein 2
Key mediator of Wnt signaling pathways and cell polarity
Gene Information Card
| Symbol | DVL2 |
|---|---|
| Full Name | Dishevelled Segment Polarity Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 1856 ncbi.nlm.nih.gov/gene/1856 |
| Ensembl ID | ENSG00000104964 |
| UniProt ID | O14641 |
| OMIM ID | 602151 |
| HGNC ID | 3087 |
| Aliases | DSH, DVL2, dishevelled 2 |
Description
DVL2 (Dishevelled Segment Polarity Protein 2) is a cytoplasmic phosphoprotein that plays a central role in Wnt signaling pathways. It acts downstream of Wnt receptors to transduce signals to the canonical β-catenin pathway and non-canonical planar cell polarity (PCP) pathway. DVL2 is involved in cell fate determination, cell polarity, and embryonic development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects | DVL2 mutations disrupt Wnt/PCP signaling, impairing convergent extension during neurulation | PMID: 20652948 |
| Colorectal cancer | DVL2 overexpression enhances β-catenin signaling, promoting tumorigenesis | PMID: 15616553 |
| Breast cancer | DVL2 amplification or overexpression correlates with poor prognosis and metastasis | PMID: 22430204 |
| Hepatocellular carcinoma | DVL2 upregulation activates Wnt/β-catenin pathway, driving proliferation | PMID: 23563577 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.8 | Embryonic kidney cells |
| HeLa | 11.2 | Cervical cancer cells |
| MCF7 | 9.5 | Breast cancer cells |
| HepG2 | 8.1 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1091C>T (p.Pro364Leu) | Missense | Rare | Unknown functional impact |
| c.1483G>A (p.Val495Met) | Missense | Rare | Potential loss of function |
| c.1726_1727insA (p.Thr576Asnfs*2) | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing Wnt signaling.
Gain of Function (GOF)
Amplifications or overexpression leading to constitutive activation of β-catenin pathway.
Dominant Negative (DN)
Missense mutations in the DEP domain that disrupt PCP signaling without affecting canonical Wnt.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Planar cell polarity pathway (Reactome: R-HSA-4086400)
• β-catenin independent Wnt signaling (Reactome: R-HSA-3858494)
Protein Summary
DVL2 is a 736-amino acid protein containing three conserved domains: DIX (Dishevelled-Axin), PDZ (PSD-95/Dlg/ZO-1), and DEP (Dishevelled/Egl-10/Pleckstrin). It interacts with Frizzled receptors and Axin to regulate β-catenin stability. DVL2 also mediates non-canonical signaling through RhoA and JNK. Post-translational modifications include phosphorylation and ubiquitination, which modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DVL2 Knockout HEK293 Cell Line | EDJ-KQ297 | Human | 1856 | Details Get a Quote |
| DVL2 Knockout HeLa Cell Line | EDJ-KQ18069 | Human | 1856 | Details Get a Quote |
| DVL2 Knockout A-549 Cell Line | EDJ-KQ18411 | Human | 1856 | Details Get a Quote |
| DVL2 Knockout HCT 116 Cell Line | EDJ-KQ18412 | Human | 1856 | Details Get a Quote |
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