WNT3A Gene: Wnt Family Member 3A
A key ligand in Wnt signaling pathways, involved in development, stem cell regulation, and cancer.
Gene Information Card
| Symbol | WNT3A |
|---|---|
| Full Name | Wnt family member 3A |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 89780 ncbi.nlm.nih.gov/gene/89780 |
| Ensembl ID | ENSG00000154330 |
| UniProt ID | P56704 |
| OMIM ID | 606359 |
| HGNC ID | 15983 |
| Aliases | WNT3, protein Wnt-3a |
Description
WNT3A (Wnt family member 3A) is a secreted glycoprotein that acts as a ligand in the Wnt signaling pathways, which are critical for embryonic development, cell proliferation, differentiation, and migration. It primarily activates the canonical Wnt/β-catenin pathway, leading to target gene transcription. WNT3A is involved in various biological processes, including axis formation, limb development, and stem cell maintenance. Dysregulation of WNT3A has been implicated in several cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Aberrant activation of Wnt/β-catenin signaling via WNT3A overexpression or mutations in downstream components. | COSMIC, PubMed |
| Neural tube defects | Altered WNT3A signaling during embryogenesis may disrupt neural tube closure. | OMIM, PubMed |
| Skeletal abnormalities | WNT3A mutations affecting limb development and bone formation. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.4 | Medium |
| Lung | 8.2 | Low |
| Kidney | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| MCF7 | 8.7 | Moderate expression |
| HCT116 | 6.5 | Low expression |
| A549 | 4.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94C>T (p.Arg32Cys) | Missense | Rare | May affect ligand-receptor interaction |
| c.346G>A (p.Val116Met) | Missense | Rare | Potential impact on protein stability |
| c.511C>T (p.Arg171Trp) | Missense | Rare | Altered signaling activity |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in WNT3A are rare and may impair Wnt signaling, potentially contributing to developmental defects.
Gain of Function (GOF)
Gain-of-function mutations are uncommon; overexpression or amplification of WNT3A can lead to constitutive pathway activation in cancer.
Dominant Negative (DN)
Dominant-negative mutations have not been well characterized for WNT3A; however, some missense variants may interfere with ligand function.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Hippo signaling pathway (KEGG: hsa04390)
• Signaling pathways regulating pluripotency of stem cells (KEGG: hsa04550)
• Basal cell carcinoma (KEGG: hsa05217)
Protein Summary
WNT3A is a 352-amino acid secreted glycoprotein with a signal peptide, a conserved Wnt domain, and multiple glycosylation sites. It undergoes post-translational palmitoylation, which is essential for its secretion and receptor binding. The protein binds to Frizzled receptors and LRP5/6 co-receptors, activating the canonical Wnt pathway. It plays a crucial role in embryogenesis and tissue homeostasis, and its dysregulation is linked to tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WNT3A Knockout HEK293 Cell Line | EDJ-KQ352 | Human | 89780 | Details Get a Quote |
| WNT3A Knockout HCT 116 Cell Line | EDJ-KQ18536 | Human | 89780 | Details Get a Quote |
| WNT3A Knockout HeLa Cell Line | EDJ-KQ57737 | Human | 89780 | Details Get a Quote |
| WNT3A Knockout A-549 Cell Line | EDJ-KQ66233 | Human | 89780 | Details Get a Quote |
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