FRZB: Frizzled Related Protein
A secreted Wnt signaling antagonist involved in skeletal development and cancer
Gene Information Card
| Symbol | FRZB |
|---|---|
| Full Name | Frizzled Related Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 2q32.1 |
| NCBI Gene ID | 2487 ncbi.nlm.nih.gov/gene/2487 |
| Ensembl ID | ENSG00000162998 |
| UniProt ID | Q92765 |
| OMIM ID | 605083 |
| HGNC ID | 3959 |
| Aliases | FRP-3, FRZB1, FREOS1, SFRP3, SRFP3 |
Description
FRZB (Frizzled Related Protein) encodes secreted frizzled-related protein 3 (SFRP3), a member of the SFRP family that functions as a soluble modulator of Wnt signaling. By binding directly to Wnt ligands, SFRP3 inhibits canonical Wnt/β-catenin pathway activation. The protein plays critical roles in embryonic development, particularly in skeletal patterning and joint formation. Dysregulation of FRZB expression or function is associated with osteoarthritis, various cancers, and skeletal disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Loss of FRZB function reduces inhibition of Wnt signaling in chondrocytes, leading to cartilage degradation | PMID: 15785747, ClinVar |
| Colorectal cancer | Downregulation of FRZB leads to aberrant Wnt activation promoting tumorigenesis | PMID: 15355999, COSMIC |
| Breast cancer | Epigenetic silencing of FRZB contributes to constitutive Wnt signaling and metastasis | PMID: 16397024, COSMIC |
| Prostate cancer | Reduced FRZB expression correlates with increased Wnt activity and poor prognosis | PMID: 15604238, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 0.0 | Not detected |
| Bone | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
| Pancreas | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 0.0 | Not detected |
| HeLa (cervical cancer) | 0.0 | Not detected |
| A549 (lung cancer) | 0.0 | Not detected |
| HepG2 (liver cancer) | 0.0 | Not detected |
| K562 (leukemia) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | missense | <0.01% | Reduced Wnt inhibitory activity; associated with osteoarthritis |
| c.376G>A (p.Gly126Ser) | missense | <0.01% | Unknown functional effect |
| c.1A>G (p.Met1Val) | missense | <0.01% | Potential loss of start codon |
| c.832C>T (p.Arg278Trp) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., Pro67Leu) impair SFRP3's ability to bind Wnt ligands, reducing antagonism and leading to unchecked Wnt signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FRZB.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for FRZB.
View complete mutation data：
Gene Ontology (GO)
| • Wnt-protein binding | • Wnt signaling pathway |
| • negative regulation of canonical Wnt signaling pathway | • extracellular region |
| • protein homodimerization activity | • cell differentiation |
| • skeletal system development |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Signaling by WNT (Reactome: R-HSA-195721)
• Negative regulation of Wnt signaling (Reactome: R-HSA-4641263)
Protein Summary
Secreted frizzled-related protein 3 (SFRP3) is a 325-amino acid glycoprotein containing a cysteine-rich domain (CRD) homologous to the Wnt-binding domain of frizzled receptors. It is secreted into the extracellular space where it directly binds Wnt ligands, preventing their interaction with frizzled receptors and thereby inhibiting canonical Wnt/β-catenin signaling. SFRP3 is expressed during embryonic development in the limb bud and joints, and its expression is often lost in cancers via promoter methylation. The protein is also implicated in cartilage homeostasis and osteoarthritis susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FRZB Knockout HEK293 Cell Line | EDJ-KQ4633 | Human | 2487 | Details Get a Quote |
| FRZB Knockout HCT 116 Cell Line | EDJ-KQ27316 | Human | 2487 | Details Get a Quote |
| FRZB Knockout HeLa Cell Line | EDJ-KQ53267 | Human | 2487 | Details Get a Quote |
| FRZB Knockout A-549 Cell Line | EDJ-KQ61750 | Human | 2487 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
