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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SFRP4
secreted frizzled related protein 4
Chromosome 7 Β· 7p14.1
NCBI Gene: 6424Ensembl: ENSG00000106483.13HGNC: HGNC:10778UniProt: Q6FHJ7
110PubMed Papers
21Diseases
0Drugs
16Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of canonical Wnt signaling pathwayprotein bindingWnt-protein bindingnegative regulation of transcription by RNA polymerase IIPyle diseaseMetaphyseal dysplasiacolorectal adenocarcinomagastric carcinoma
✦AI Summary

SFRP4 is a secreted Wnt antagonist that functions as a decoy receptor for Wnt ligands, modulating canonical and non-canonical Wnt signaling pathways 1. In bone, SFRP4 regulates periosteal stem cell expansion and endosteal resorption through non-canonical Wnt repression; loss-of-function mutations cause Pyle disease, characterized by cortical bone thinning and fracture susceptibility despite increased trabecular density 1. Beyond skeletal biology, SFRP4 marks distinct fibroblast subpopulations in fibrotic and inflammatory diseases. In systemic sclerosis, SFRP4-expressing fibroblasts correlate with progressive skin fibrosis and clinical severity 2. Similarly, SFRP4+ myofibroblasts are enriched in localized scleroderma skin lesions with inflammatory gene signatures 3, and hidradenitis suppurativa fibrosis 4. In reproductive biology, SFRP4+ stromal cells indicate impaired decidualization in preeclampsia, reflecting disrupted Wnt pathway signaling 5. In prostate cancer, SFRP4 expression in cancer-associated fibroblasts correlates with aggressiveness and extracellular matrix remodeling 6, with specific SFRP4 SNPs associated with increased cancer risk 7. SFRP4 also exhibits phosphaturic effects by inhibiting sodium-dependent phosphate uptake. Overall, SFRP4 serves as a critical Wnt pathway regulator with roles in bone homeostasis, fibrosis progression, and cancer biology.

Sources cited
1
SFRP4 loss-of-function causes Pyle disease with cortical bone thinning; regulates periosteal stem cell expansion and endosteal resorption via non-canonical Wnt repression
PMID: 35182301
2
SFRP4/SFRP2+ fibroblasts are increased in systemic sclerosis skin and correlate with progressive skin fibrosis severity
PMID: 38147960
3
SFRP4+ myofibroblast-like fibroblasts are more prevalent in localized scleroderma with inflammatory gene expression
PMID: 37372943
4
SFRP4+ fibroblasts orchestrate compartmentalized immune response and fibrosis in hidradenitis suppurativa via Hippo pathway
PMID: 38051587
5
SFRP4+ proliferative stromal cells indicate stromal mosaic state and impaired decidualization in preeclampsia
PMID: 39775038
6
SFRP4 mRNA in cancer stroma correlates with prostate cancer aggressiveness and extracellular matrix remodeling
PMID: 39511287
7
SFRP4 rs1802074 polymorphism associates with prostate cancer risk via altered Wnt antagonism
PMID: 33361638
Disease Associationsβ“˜21
Pyle diseaseOpen Targets
0.73Strong
Metaphyseal dysplasiaOpen Targets
0.46Moderate
colorectal adenocarcinomaOpen Targets
0.38Weak
gastric carcinomaOpen Targets
0.38Weak
esophageal adenocarcinomaOpen Targets
0.38Weak
skin basal cell carcinomaOpen Targets
0.37Weak
colon adenocarcinomaOpen Targets
0.37Weak
embryonal rhabdomyosarcomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.30Weak
KeloidOpen Targets
0.30Weak
esophageal squamous cell carcinomaOpen Targets
0.29Weak
pancreatic ductal adenocarcinomaOpen Targets
0.28Weak
oral squamous cell carcinomaOpen Targets
0.28Weak
cervical squamous cell carcinomaOpen Targets
0.28Weak
gastric adenocarcinomaOpen Targets
0.28Weak
head and neck squamous cell carcinomaOpen Targets
0.28Weak
melanomaOpen Targets
0.28Weak
chronic lymphocytic leukemiaOpen Targets
0.28Weak
non-small cell lung carcinomaOpen Targets
0.28Weak
Pyle diseaseUniProt
Pathogenic Variants16
NM_003014.4(SFRP4):c.184G>T (p.Glu62Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 62
NM_003014.4(SFRP4):c.50_65del (p.Leu17fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 17
NM_003014.4(SFRP4):c.792-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003014.4(SFRP4):c.73G>T (p.Glu25Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 25
NM_003014.4(SFRP4):c.180_182dup (p.Tyr61Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 61
NM_003014.4(SFRP4):c.111del (p.Pro36_Trp37insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 36
NM_003014.4(SFRP4):c.72C>A (p.Cys24Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 24
NM_003014.4(SFRP4):c.433del (p.Asp145fs)Pathogenic
Pyle metaphyseal dysplasia
β˜…β˜†β˜†β˜†2023β†’ Residue 145
NM_003014.4(SFRP4):c.445+1G>ALikely pathogenic
Pyle metaphyseal dysplasia
β˜…β˜†β˜†β˜†2023
NM_003014.4(SFRP4):c.617del (p.Val206fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 206
NM_003014.4(SFRP4):c.373T>A (p.Cys125Ser)Likely pathogenic
Pyle metaphyseal dysplasia
β˜…β˜†β˜†β˜†2019β†’ Residue 125
NM_003014.4(SFRP4):c.161C>A (p.Ala54Asp)Likely pathogenic
Pyle metaphyseal dysplasia
β˜…β˜†β˜†β˜†2019β†’ Residue 54
NM_003014.4(SFRP4):c.481_487del (p.Val161fs)Pathogenic
Pyle metaphyseal dysplasia
β˜…β˜†β˜†β˜†β†’ Residue 161
NM_003014.4(SFRP4):c.180del (p.Gln60fs)Pathogenic
Pyle metaphyseal dysplasia
β˜…β˜†β˜†β˜†β†’ Residue 60
NM_003014.3(SFRP4):c.694C>TPathogenic
Pyle metaphyseal dysplasia
β˜†β˜†β˜†β˜†2017
NM_003014.4(SFRP4):c.499dup (p.Asp167fs)Pathogenic
Pyle metaphyseal dysplasia
β˜†β˜†β˜†β˜†2017β†’ Residue 167
View on ClinVar β†—
Related Genes
LRP5Protein interaction92%FZD4Protein interaction92%FZD1Protein interaction91%FZD8Protein interaction90%WNT3Protein interaction89%WNT11Protein interaction89%
Tissue Expression6 tissues
Ovary
100%
Heart
40%
Lung
9%
Bone Marrow
1%
Brain
1%
Liver
1%
Gene Interaction Network
Click a node to explore
SFRP4LRP5FZD4FZD1FZD8WNT3WNT11
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6FHJ7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.86LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.58 [0.41–0.86]
RankingsWhere SFRP4 stands among ~20K protein-coding genes
  • #4,332of 20,598
    Most Researched110 Β· top quartile
  • #2,398of 5,498
    Most Pathogenic Variants16
  • #7,480of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedSFRP4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Single-cell sequencing reveals Hippo signaling as a driver of fibrosis in hidradenitis suppurativa.
PMID: 38051587
J Clin Invest Β· 2024
1.00
2
Multi-omics-based mapping of decidualization resistance in patients with a history of severe preeclampsia.
PMID: 39775038
Nat Med Β· 2025
0.90
3
Single-Cell Transcriptome Analysis Identifies Subclusters with Inflammatory Fibroblast Responses in Localized Scleroderma.
PMID: 37372943
Int J Mol Sci Β· 2023
0.80
4
PMID: 39112444
0.70
5
Sfrp4 and the Biology of Cortical Bone.
PMID: 35182301
Curr Osteoporos Rep Β· 2022
0.60