FZD9: Frizzled Class Receptor 9
A key WNT signaling receptor involved in development and disease
Gene Information Card
| Symbol | FZD9 |
|---|---|
| Full Name | Frizzled Class Receptor 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 8326 ncbi.nlm.nih.gov/gene/8326 |
| Ensembl ID | ENSG00000108821 |
| UniProt ID | O00144 |
| OMIM ID | 601766 |
| HGNC ID | 4044 |
| Aliases | FZD3, Frizzled-9, Frizzled homolog 9 |
Description
FZD9 (Frizzled Class Receptor 9) is a protein-coding gene located on chromosome 7q11.23. It encodes a member of the Frizzled family of seven-transmembrane domain receptors that function as receptors for WNT signaling proteins. FZD9 plays a critical role in embryonic development, cell polarity, and tissue homeostasis. Mutations and altered expression of FZD9 are associated with Williams-Beuren syndrome and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Williams-Beuren syndrome | Hemizygous deletion of 7q11.23 including FZD9 contributes to the phenotype | OMIM #194050; NCBI Gene |
| Hepatocellular carcinoma | Downregulation of FZD9 may promote tumor progression via altered WNT signaling | PubMed; COSMIC |
| Colorectal cancer | Epigenetic silencing of FZD9 observed in tumor samples | PubMed; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 6.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | Embryonic kidney cells |
| HeLa | 9.2 | Cervical cancer cells |
| HepG2 | 5.6 | Hepatocellular carcinoma cells |
| K562 | 3.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T | Missense | Rare | p.Arg38Cys; potential loss of function |
| c.457G>A | Missense | Rare | p.Gly153Arg; uncertain significance |
| c.832delC | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in FZD9 are predicted to result in loss of receptor function, impairing WNT signaling.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in FZD9.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by disrupting receptor dimerization or ligand binding.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity (GO:0004930) | • Wnt-protein binding (GO:0017147) |
| • signal transduction (GO:0007165) | • plasma membrane (GO:0005886) |
| • canonical Wnt signaling pathway (GO:0060070) |
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Planar cell polarity pathway
• Hippo signaling pathway
Protein Summary
Frizzled-9 (FZD9) is a 591-amino acid protein with seven transmembrane domains, an N-terminal cysteine-rich domain (CRD) for WNT ligand binding, and a C-terminal PDZ-binding motif. It localizes to the plasma membrane and transduces signals via both canonical (β-catenin-dependent) and non-canonical WNT pathways. FZD9 is involved in neural development, angiogenesis, and tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FZD9 Knockout HEK293 Cell Line | EDJ-KQ310 | Human | 8326 | Details Get a Quote |
| FZD9 Knockout A-549 Cell Line | EDJ-KQ18444 | Human | 8326 | Details Get a Quote |
| FZD9 Knockout HeLa Cell Line | EDJ-KQ54855 | Human | 8326 | Details Get a Quote |
| FZD9 Knockout HCT 116 Cell Line | EDJ-KQ71811 | Human | 8326 | Details Get a Quote |
