FZD8 (Frizzled Class Receptor 8)
Wnt Signaling Receptor in Development and Cancer
Gene Information Card
| Symbol | FZD8 |
|---|---|
| Full Name | Frizzled Class Receptor 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p11.21 |
| NCBI Gene ID | 8325 ncbi.nlm.nih.gov/gene/8325 |
| Ensembl ID | ENSG00000173264 |
| UniProt ID | Q9H461 |
| OMIM ID | 604573 |
| HGNC ID | 4045 |
| Aliases | Frizzled-8, Fz-8, hFz8 |
Description
FZD8 encodes a member of the frizzled family of seven-transmembrane domain receptors that function as receptors for Wnt signaling proteins. FZD8 plays a critical role in embryonic development, cell polarity, and tissue homeostasis. It is involved in canonical and non-canonical Wnt pathways, regulating gene transcription and cell behavior. Aberrant FZD8 expression and mutations are implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | FZD8 overexpression activates Wnt/β-catenin signaling, promoting tumor growth | PMID: 23431147 |
| Breast Cancer | FZD8 upregulation correlates with poor prognosis and metastasis | PMID: 25624455 |
| Osteosarcoma | FZD8 mediates Wnt3a-induced proliferation and invasion | PMID: 28407145 |
| Gastric Cancer | FZD8 amplification enhances Wnt signaling and cell migration | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Kidney | 8.1 | Medium |
| Liver | 3.4 | Low |
| Lung | 6.7 | Medium |
| Placenta | 12.3 | High |
| Testis | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.5 | Embryonic kidney cells |
| HeLa | 7.2 | Cervical cancer cells |
| MCF7 | 11.0 | Breast cancer cells |
| HCT116 | 14.3 | Colorectal cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1135C>T (p.Arg379Cys) | Missense | 0.02% | Altered ligand binding |
| c.1462G>A (p.Gly488Arg) | Missense | 0.01% | Unknown functional impact |
| c.1720_1721insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1720_1721insA) predicted to truncate the protein and impair receptor function.
Gain of Function (GOF)
Not well documented; overexpression is more common than activating mutations.
Dominant Negative (DN)
Not reported for FZD8.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • Wnt-protein binding |
| • Wnt signaling pathway | • cell surface receptor signaling pathway |
| • canonical Wnt signaling pathway | • non-canonical Wnt signaling pathway |
| • plasma membrane |
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Hippo signaling pathway (KEGG: hsa04390)
• Signaling by WNT (Reactome: R-HSA-195721)
Protein Summary
FZD8 is a 694-amino acid seven-transmembrane receptor with an N-terminal cysteine-rich domain (CRD) essential for Wnt ligand binding. It interacts with Dishevelled (DVL) to transduce signals to β-catenin-dependent and independent pathways. The protein is localized to the plasma membrane and undergoes post-translational modifications including glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FZD8 Knockout HEK293 Cell Line | EDJ-KQ309 | Human | 8325 | Details Get a Quote |
| FZD8 Knockout A-549 Cell Line | EDJ-KQ17968 | Human | 8325 | Details Get a Quote |
| FZD8 Knockout HeLa Cell Line | EDJ-KQ18443 | Human | 8325 | Details Get a Quote |
| FZD8 Knockout HCT 116 Cell Line | EDJ-KQ71810 | Human | 8325 | Details Get a Quote |
