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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FRZB
frizzled related protein
Chromosome 2 · 2q32.1
NCBI Gene: 2487Ensembl: ENSG00000162998.6HGNC: HGNC:3959UniProt: D9ZGF6
79PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of cell growthpositive regulation of apoptotic processprotein bindingpositive regulation of fat cell differentiationosteoarthritisretinitis pigmentosahypertrophic cardiomyopathy 14hepatocellular carcinoma
✦AI Summary

FRZB (frizzled-related protein) is a soluble Wnt signaling modulator that functions as a competitive antagonist of Wnt ligands by direct binding 1. Primarily, FRZB regulates skeletal development and chondrocyte maturation through negative regulation of canonical Wnt signaling, thereby suppressing cell growth and proliferation in bone and cartilage tissues. The protein localizes to both cytoplasm and nuclear membranes 2, enabling its inhibitory effects on Wnt-dependent pathways. In osteoarthritis (OA), FRZB expression is progressively lost during cartilage degeneration; its absence correlates with increased hypertrophic marker expression and cartilage degradation, suggesting FRZB normally maintains cartilage homeostasis 3. Beyond skeletal pathology, FRZB acts as a mechanistic regulator in age-related macular degeneration through WNT signaling modulation 1 and participates in vascular smooth muscle cell osteogenic transformation during atherosclerosis progression 4. Additionally, FRZB is elevated in degenerating intervertebral discs and serves as a predictive biomarker for disc degeneration 5, while also being altered in Alzheimer's disease plasma as part of amyloid-associated protein networks 6. Notably, genetic variants in FRZB show limited association with OA susceptibility in large population studies 78, suggesting its primary relevance is through expression modulation rather than genetic variation.

Sources cited
1
FRZB identified as WNT signaling regulator mechanistically involved in age-related macular degeneration
PMID: 37388919
2
FRZB localizes to cytoplasm and nucleus, especially nuclear membrane, with elevated expression in gastric cancer correlating with differentiation status
PMID: 18344084
3
FRZB expression is progressively lost during OA progression and negatively correlates with OA grading; functions as WNT antagonist maintaining cartilage homeostasis
PMID: 27428952
4
FRZB identified as key driver in smooth muscle cell osteogenic transformation during advanced symptomatic atherosclerosis
PMID: 38639096
5
FRZB identified as predictive biomarker for intervertebral disc degeneration in single-cell transcriptomic analysis
PMID: 35409356
6
FRZB elevated in Alzheimer's disease plasma as part of heparin-enriched proteome correlating with amyloid pathology
PMID: 39380021
7
FRZB polymorphisms (Arg200Trp, Arg324Gly) show no consistent association with radiographic osteoarthritis in population-based cohorts
PMID: 18406176
8
Meta-analysis shows FRZB polymorphisms (rs7775, rs288326) lack sizable genetic effects on OA phenotypes across populations
PMID: 19479880
Disease Associationsⓘ21
osteoarthritisOpen Targets
0.48Moderate
retinitis pigmentosaOpen Targets
0.12Weak
hypertrophic cardiomyopathy 14Open Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
melanomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
osteomyelitisOpen Targets
0.07Suggestive
amyotrophic lateral sclerosisOpen Targets
0.06Suggestive
muscular diseaseOpen Targets
0.06Suggestive
astrocytomaOpen Targets
0.06Suggestive
Intermediate osteopetrosisOpen Targets
0.06Suggestive
hereditary neuropathy with liability to pressure palsiesOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.05Suggestive
myocardial infarctionOpen Targets
0.05Suggestive
hyperostosis corticalis generalisataOpen Targets
0.05Suggestive
autosomal recessive osteopetrosis 6Open Targets
0.05Suggestive
colorectal cancerOpen Targets
0.05Suggestive
autosomal dominant osteosclerosis, Worth typeOpen Targets
0.05Suggestive
dilated cardiomyopathyOpen Targets
0.05Suggestive
glioblastomaOpen Targets
0.05Suggestive
Osteoarthritis 1UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LRP5Protein interaction100%MATN3Protein interaction95%DKK1Protein interaction93%DKK2Protein interaction91%ASPNProtein interaction90%CTDSP2Protein interaction89%
Tissue Expression6 tissues
Heart
100%
Ovary
37%
Brain
32%
Lung
25%
Bone Marrow
9%
Liver
9%
Gene Interaction Network
Click a node to explore
FRZBLRP5MATN3DKK1DKK2ASPNCTDSP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q92765
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.52LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.09 [0.79–1.52]
RankingsWhere FRZB stands among ~20K protein-coding genes
  • #5,994of 20,598
    Most Researched79
  • #15,262of 17,882
    Most Constrained (LOEUF)1.52
Genes detectedFRZB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-Cell Gene-Regulatory Networks of Advanced Symptomatic Atherosclerosis.
PMID: 38639096
Circ Res · 2024
1.00
2
A systems biology approach uncovers novel disease mechanisms in age-related macular degeneration.
PMID: 37388919
Cell Genom · 2023
0.90
3
Single-Cell RNA-Seq Analysis of Cells from Degenerating and Non-Degenerating Intervertebral Discs from the Same Individual Reveals New Biomarkers for Intervertebral Disc Degeneration.
PMID: 35409356
Int J Mol Sci · 2022
0.80
4
Radiographic osteoarthritis at three joint sites and FRZB, LRP5, and LRP6 polymorphisms in two population-based cohorts.
PMID: 18406176
Osteoarthritis Cartilage · 2008
0.70
5
[Expression and intracellular localization of FRZB gene in gastric cancer and its significance].
PMID: 18344084
Zhonghua Wei Chang Wai Ke Za Zhi · 2008
0.60