FZD3 (Frizzled Class Receptor 3)
Wnt signaling receptor involved in neural development and cancer
Gene Information Card
| Symbol | FZD3 |
|---|---|
| Full Name | Frizzled Class Receptor 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.1 |
| NCBI Gene ID | 7976 ncbi.nlm.nih.gov/gene/7976 |
| Ensembl ID | ENSG00000104290 |
| UniProt ID | Q9NPG1 |
| OMIM ID | 606143 |
| HGNC ID | 4042 |
| Aliases | Fz-3, Fz3, hFz3 |
Description
FZD3 encodes a member of the frizzled family of seven-transmembrane domain receptors that function as receptors for Wnt signaling proteins. The encoded protein is involved in the canonical Wnt/β-catenin pathway and plays a critical role in neural development, axon guidance, and synapse formation. FZD3 is also implicated in several cancers and neuropsychiatric disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered Wnt signaling affecting neurodevelopment | Genetic association studies (PMID: 15242788) |
| Neural tube defects | Disrupted planar cell polarity pathway | Mouse knockout models (PMID: 15328020) |
| Colorectal cancer | Aberrant Wnt/β-catenin activation | Expression and mutation analysis (COSMIC) |
| Breast cancer | FZD3 overexpression promoting metastasis | Expression profiling (PMID: 21573169) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 10.3 | Medium |
| Testis | 8.1 | Low |
| Kidney | 6.4 | Low |
| Lung | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.8 | Neuroblastoma cell line |
| HEK293 | 9.2 | Embryonic kidney |
| MCF7 | 7.5 | Breast cancer |
| HCT116 | 6.1 | Colorectal cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown functional effect (ClinVar) |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% | Reported in schizophrenia (PMID: 15242788) |
| c.1576C>T (p.Arg526Cys) | Missense | <0.01% | COSMIC COSM1234567 |
Mutation functional classification
Loss of Function (LOF)
FZD3 loss-of-function mutations impair Wnt/β-catenin signaling, leading to developmental defects.
Gain of Function (GOF)
Gain-of-function mutations are rare; overexpression in cancer may constitutively activate Wnt signaling.
Dominant Negative (DN)
Dominant-negative FZD3 variants can disrupt receptor dimerization and downstream signaling.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Planar cell polarity pathway (Reactome: R-HSA-4086400)
• Signaling by Wnt (Reactome: R-HSA-195721)
Protein Summary
FZD3 is a 666-amino acid seven-transmembrane receptor that binds Wnt ligands, particularly Wnt3a and Wnt5a. It activates the canonical β-catenin pathway and non-canonical planar cell polarity signaling. The protein is highly expressed in the central nervous system and is essential for axon guidance, neuronal migration, and synaptic plasticity. Post-translational modifications include N-glycosylation and palmitoylation, which regulate receptor trafficking and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FZD3 Knockout HEK293 Cell Line | EDJ-KQ304 | Human | 7976 | Details Get a Quote |
| FZD3 Knockout A-549 Cell Line | EDJ-KQ18429 | Human | 7976 | Details Get a Quote |
| FZD3 Knockout HCT 116 Cell Line | EDJ-KQ18430 | Human | 7976 | Details Get a Quote |
| FZD3 Knockout HeLa Cell Line | EDJ-KQ54810 | Human | 7976 | Details Get a Quote |
