DVL3 Gene - Dishevelled Segment Polarity Protein 3
Key mediator of Wnt signaling pathways and developmental processes
Gene Information Card
| Symbol | DVL3 |
|---|---|
| Full Name | Dishevelled Segment Polarity Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 1857 ncbi.nlm.nih.gov/gene/1857 |
| Ensembl ID | ENSG00000161202 |
| UniProt ID | Q92997 |
| OMIM ID | 601368 |
| HGNC ID | 3087 |
| Aliases | DVL3, dishevelled 3, DSH homolog 3 |
Description
DVL3 (Dishevelled Segment Polarity Protein 3) is a protein-coding gene that encodes a cytoplasmic phosphoprotein involved in Wnt signaling pathways. It acts as a key mediator of canonical and non-canonical Wnt signaling, regulating cell polarity, proliferation, and differentiation. DVL3 is essential for embryonic development and has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Robinow Syndrome, Autosomal Dominant 3 | Loss-of-function mutations in DVL3 disrupt Wnt signaling, leading to skeletal and craniofacial abnormalities | OMIM #616894 |
| Colorectal Cancer | DVL3 overexpression activates Wnt/β-catenin signaling, promoting tumorigenesis | COSMIC, PubMed |
| Breast Cancer | DVL3 amplification or overexpression correlates with poor prognosis and metastasis | COSMIC, PubMed |
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 |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical cancer cells |
| MCF7 | 9.8 | Breast cancer cells |
| HCT116 | 13.2 | Colorectal cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1096C>T (p.Arg366*) | Nonsense | Rare | Loss of function; associated with Robinow syndrome |
| c.1483G>A (p.Gly495Arg) | Missense | Rare | Unknown effect; reported in cancer |
| c.1720_1721insA | Frameshift | Rare | Loss of function; associated with Robinow syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in DVL3 reduce protein function, impairing Wnt signaling and causing Robinow syndrome.
Gain of Function (GOF)
Amplification or overexpression of DVL3 in cancers leads to constitutive Wnt pathway activation.
Dominant Negative (DN)
Some missense mutations may act as dominant-negative by interfering with wild-type DVL3 function.
View complete mutation data：
Gene Ontology (GO)
| • Wnt signaling pathway (GO:0016055) | • Cell polarity (GO:0007163) |
| • Beta-catenin binding (GO:0008013) | • Dishevelled family (GO:0005886) |
Pathways
• Wnt signaling pathway (KEGG hsa04310)
• Planar cell polarity pathway (Reactome R-HSA-4086400)
• Beta-catenin independent WNT signaling (Reactome R-HSA-3858494)
Protein Summary
DVL3 is a 716-amino acid cytoplasmic protein containing DIX, PDZ, and DEP domains. It transduces Wnt signals from Frizzled receptors to downstream effectors, regulating β-catenin stability and cell polarity. DVL3 is ubiquitously expressed and plays critical roles in embryogenesis and tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DVL3 Knockout HEK293 Cell Line | EDJ-KQ112 | Human | 1857 | Details Get a Quote |
| DVL3 Knockout HeLa Cell Line | EDJ-KQ18120 | Human | 1857 | Details Get a Quote |
| DVL3 Knockout A-549 Cell Line | EDJ-KQ18413 | Human | 1857 | Details Get a Quote |
| DVL3 Knockout HCT 116 Cell Line | EDJ-KQ18415 | Human | 1857 | Details Get a Quote |
| DVL3 Knockout OVCAR-3 Cell Line | EDJ-KZ200 | Human | 1857 | Details Get a Quote |
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