WNT5B
Wnt Family Member 5B: A Key Regulator of Developmental Signaling and Disease
Gene Information Card
| Symbol | WNT5B |
|---|---|
| Full Name | Wingless-type MMTV integration site family, member 5B |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.33 |
| NCBI Gene ID | 81029 ncbi.nlm.nih.gov/gene/81029 |
| Ensembl ID | ENSG00000111186 |
| UniProt ID | Q9H1J7 |
| OMIM ID | 606361 |
| HGNC ID | 12763 |
| Aliases | WNT-5B, MGC2648 |
Description
WNT5B is a member of the WNT gene family, which encodes secreted signaling proteins involved in developmental processes, cell polarity, and cell migration. WNT5B primarily signals through non-canonical Wnt pathways, including the planar cell polarity (PCP) and Wnt/Ca2+ pathways, and can antagonize canonical β-catenin-dependent signaling. It plays roles in embryonic development, tissue homeostasis, and is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Altered WNT5B expression may promote tumor invasion and metastasis via non-canonical signaling. | PMID: 23455478 |
| Colorectal Cancer | WNT5B hypermethylation and reduced expression correlate with poor prognosis. | PMID: 25605247 |
| Type 2 Diabetes | WNT5B variants associated with insulin resistance and beta-cell dysfunction. | PMID: 19096310 |
| Osteoporosis | WNT5B regulates osteoblast differentiation and bone mass. | PMID: 21746835 |
| Neural Tube Defects | WNT5B mutations disrupt planar cell polarity during neurulation. | PMID: 20652948 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Breast | 15.2 | Medium |
| Colon | 20.1 | High |
| Heart | 5.4 | Low |
| Kidney | 10.8 | Medium |
| Liver | 3.2 | Low |
| Lung | 18.7 | High |
| Pancreas | 7.9 | Low |
| Placenta | 22.4 | High |
| Prostate | 11.6 | Medium |
| Skin | 14.3 | Medium |
| Stomach | 9.1 | Low |
| Testis | 25.0 | High |
| Thyroid | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.5 | Moderate expression |
| HCT116 (colorectal cancer) | 22.3 | High expression |
| A549 (lung cancer) | 15.8 | Moderate expression |
| HEK293 (embryonic kidney) | 12.1 | Low expression |
| K562 (leukemia) | 8.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function; initiation codon change |
| c.215C>T (p.Pro72Leu) | Missense | 0.02% | Unknown significance; reported in cancer samples |
| c.448G>A (p.Gly150Arg) | Missense | <0.01% | Unknown significance; rare population variant |
| c.823C>T (p.Arg275Trp) | Missense | 0.01% | Unknown significance; found in developmental delay cases |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the initiation codon or introduce premature stop codons are predicted to cause loss of function, reducing WNT5B signaling activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for WNT5B.
Dominant Negative (DN)
Truncating mutations in the ligand-binding domain may act in a dominant-negative manner, interfering with wild-type WNT5B signaling.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Non-canonical Wnt signaling pathway (PCP pathway)
• Wnt/Ca2+ pathway
• Regulation of planar cell polarity
• Embryonic development
Protein Summary
WNT5B is a secreted glycoprotein of approximately 40 kDa that belongs to the WNT family. It contains a conserved WNT domain and multiple cysteine residues essential for proper folding and signaling. WNT5B binds to frizzled receptors and co-receptors such as ROR2, activating non-canonical pathways that regulate cytoskeletal dynamics, cell polarity, and migration. It can also inhibit canonical β-catenin signaling in certain contexts. Post-translational modifications include glycosylation and palmitoylation, which are critical for secretion and receptor binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WNT5B Knockout HEK293 Cell Line | EDJ-KQ1186 | Human | 81029 | Details Get a Quote |
| WNT5B Knockout A-549 Cell Line | EDJ-KQ20468 | Human | 81029 | Details Get a Quote |
| WNT5B Knockout HeLa Cell Line | EDJ-KQ20469 | Human | 81029 | Details Get a Quote |
| WNT5B Knockout HCT 116 Cell Line | EDJ-KQ74294 | Human | 81029 | Details Get a Quote |
