WNT3: A Key Regulator in Embryonic Development and WNT Signaling
Comprehensive gene card for WNT3, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | WNT3 |
|---|---|
| Full Name | Wnt family member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31-q21.32 |
| NCBI Gene ID | 7473 ncbi.nlm.nih.gov/gene/7473 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | P56703 |
| OMIM ID | 165330 |
| HGNC ID | 12782 |
| Aliases | INT4, WNT3A |
Description
WNT3 is a member of the WNT gene family, which encodes secreted signaling proteins involved in oncogenesis and embryonic development. WNT3 plays a critical role in the canonical WNT/β-catenin signaling pathway, regulating cell fate, proliferation, and migration. Mutations in WNT3 are associated with tetra-amelia syndrome, a rare autosomal recessive disorder characterized by complete absence of all four limbs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tetra-amelia syndrome | Loss-of-function mutations in WNT3 disrupt WNT signaling required for limb bud formation, leading to complete absence of limbs. | OMIM #273395; ClinVar; PMID: 15122512 |
| Colorectal cancer | WNT3 overexpression or aberrant activation of WNT signaling contributes to tumorigenesis. | COSMIC; PMID: 20601957 |
| Gastric cancer | WNT3 upregulation is associated with poor prognosis and metastasis. | COSMIC; PMID: 23429717 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 11.2 | Medium |
| Testis | 8.5 | Medium |
| Brain | 4.3 | Low |
| Lung | 3.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 8.2 | Medium expression |
| MCF7 | 6.5 | Medium expression |
| A549 | 4.0 | Low expression |
| HepG2 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of function; associated with tetra-amelia syndrome |
| c.82C>T (p.Arg28*) | Nonsense | Rare | Loss of function; associated with tetra-amelia syndrome |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Loss of function; associated with tetra-amelia syndrome |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in WNT3, such as nonsense and missense variants, disrupt WNT signaling and cause tetra-amelia syndrome.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented for WNT3; overexpression is observed in some cancers.
Dominant Negative (DN)
No dominant-negative mutations have been reported for WNT3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Signaling by WNT (Reactome: R-HSA-195721)
• Beta-catenin independent WNT signaling (Reactome: R-HSA-3858494)
Protein Summary
WNT3 is a secreted glycoprotein of 355 amino acids (UniProt P56703) that acts as a ligand for frizzled receptors. It is essential for embryonic development, particularly limb formation. The protein undergoes post-translational palmitoylation, which is required for its secretion and signaling activity. WNT3 activates the canonical WNT/β-catenin pathway, leading to target gene transcription.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WNT3 Knockout HEK293 Cell Line | EDJ-KQ351 | Human | 7473 | Details Get a Quote |
| WNT3A Knockout HEK293 Cell Line | EDJ-KQ352 | Human | 89780 | Details Get a Quote |
| WNT3 Knockout A-549 Cell Line | EDJ-KQ17976 | Human | 7473 | Details Get a Quote |
| WNT3 Knockout HCT 116 Cell Line | EDJ-KQ18534 | Human | 7473 | Details Get a Quote |
| WNT3 Knockout HeLa Cell Line | EDJ-KQ18535 | Human | 7473 | 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 |
