HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FZD4
frizzled class receptor 4
Chromosome 11 · 11q14.2
NCBI Gene: 8322Ensembl: ENSG00000174804.4HGNC: HGNC:4042UniProt: Q9ULV1
118PubMed Papers
21Diseases
0Drugs
81Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Wnt receptor activitycytokine receptor activityprotein bindingcytokine bindingFamilial exudative vitreoretinopathyRetinal dystrophyexudative vitreoretinopathyCoats disease
✦AI Summary

FZD4 (frizzled class receptor 4) functions as a critical G-protein coupled receptor for Wnt proteins and norrin, primarily activating the canonical β-catenin signaling pathway 1. The protein plays essential roles in vascular development, particularly in retinal and cochlear microvasculature, where it responds to both Wnt proteins and norrin (NDP) to promote β-catenin accumulation and LEF/TCF-mediated transcriptional programs 2. FZD4 cooperates with co-receptors LRP5/LRP6 to activate downstream signaling cascades that regulate vascular barrier function and endothelial cell homeostasis 3. Mutations in FZD4 are strongly associated with familial exudative vitreoretinopathy (FEVR), a hereditary retinal vascular disorder characterized by peripheral retinal avascularity and potential vision loss 45. The protein's C-terminal domain (amino acids 495-537) containing PDZ binding motifs appears particularly critical for normal function, as FEVR-associated missense mutations frequently affect this region 6. Beyond ocular disease, FZD4 demonstrates tumor suppressor properties in cutaneous squamous cell carcinoma and promotes vessel normalization in lung cancer through Wnt/β-catenin signaling 78. FZD4 represents a key therapeutic target for retinal vascular diseases and cancer treatment strategies.

Sources cited
1
FZD4 functions as receptor for Wnt proteins activating canonical β-catenin signaling pathway
PMID: 30135577
2
FZD4 responds to norrin in cochlear vascular endothelial cells and restoration of β-catenin signaling prevents hair cell death
PMID: 39585982
3
FZD4 cooperates with LRP6 in Wnt2/Wnt4 signaling to activate β-catenin/NF-κB pathway in cardiac fibrosis
PMID: 34911029
4
FZD4 mutations are associated with familial exudative vitreoretinopathy (FEVR) in Chinese population
PMID: 34860240
5
FZD4 mutations disrupt Wnt/β-catenin and Norrin signaling pathways critical for retinal vascular development in FEVR
PMID: 40623591
6
FEVR-associated missense mutations affect C-terminal domain (amino acids 495-537) containing PDZ binding motifs
PMID: 30849938
7
FZD4 acts as tumor suppressor in cutaneous squamous cell carcinoma by inhibiting proliferation and promoting apoptosis
PMID: 35068502
8
FZD4 promotes tumor vessel normalization and inhibits lung cancer progression through Wnt/β-catenin signaling
PMID: 38589650
Disease Associationsⓘ21
Familial exudative vitreoretinopathyOpen Targets
0.82Strong
Retinal dystrophyOpen Targets
0.51Moderate
exudative vitreoretinopathyOpen Targets
0.46Moderate
Coats diseaseOpen Targets
0.42Moderate
eye diseaseOpen Targets
0.42Moderate
persistent hyperplastic primary vitreousOpen Targets
0.37Weak
FZD4-related exudative vitreoretinopathyOpen Targets
0.37Weak
retinopathy of prematurityOpen Targets
0.35Weak
Norrie diseaseOpen Targets
0.34Weak
genetic disorderOpen Targets
0.19Weak
polycystic ovary syndromeOpen Targets
0.18Weak
cancerOpen Targets
0.12Weak
optic atrophyOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.09Suggestive
psychiatric disorderOpen Targets
0.08Suggestive
Vitreoretinopathy, exudative 1UniProt
Pathogenic Variants81
NM_012193.4(FZD4):c.313A>G (p.Met105Val)Pathogenic
Coats disease;Familial exudative vitreoretinopathy|not provided|Exudative vitreoretinopathy 1|Familial exudative vitreoretinopathy|Atrophia bulborum hereditaria|Retinal dystrophy|FZD4-related disorder
★★☆☆2026→ Residue 105
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs)Pathogenic
Exudative vitreoretinopathy 1|not provided
★★☆☆2026→ Residue 501
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs)Pathogenic
Coats disease;Familial exudative vitreoretinopathy|not provided|Exudative vitreoretinopathy 1|Retinal dystrophy
★★☆☆2025→ Residue 428
NM_012193.4(FZD4):c.1188_1192del (p.Phe396fs)Pathogenic
not provided
★★☆☆2025→ Residue 396
NM_012193.4(FZD4):c.611G>A (p.Cys204Tyr)Pathogenic
not provided
★★☆☆2025→ Residue 204
NM_012193.4(FZD4):c.542G>A (p.Cys181Tyr)Pathogenic
not provided
★★☆☆2025→ Residue 181
NM_012193.4(FZD4):c.1350T>A (p.Cys450Ter)Pathogenic
not provided
★★☆☆2024→ Residue 450
NM_012193.4(FZD4):c.40_49del (p.Pro14fs)Pathogenic
Familial exudative vitreoretinopathy|not provided
★★☆☆2023→ Residue 14
NM_012193.4(FZD4):c.341T>A (p.Ile114Asn)Likely pathogenic
not provided|Retinal dystrophy
★★☆☆2023→ Residue 114
NM_012193.4(FZD4):c.1513C>T (p.Gln505Ter)Pathogenic
not provided
★★☆☆2022→ Residue 505
NM_012193.4(FZD4):c.1474G>C (p.Gly492Arg)Pathogenic
not provided
★★☆☆2021→ Residue 492
NM_012193.4(FZD4):c.1510_1528del (p.Trp504fs)Pathogenic
not provided
★☆☆☆2025→ Residue 504
NM_012193.4(FZD4):c.40_49dup (p.Val17fs)Pathogenic
not provided
★☆☆☆2025→ Residue 17
NM_012193.4(FZD4):c.169G>T (p.Gly57Cys)Likely pathogenic
Retinal disorder
★☆☆☆2025→ Residue 57
NM_012193.4(FZD4):c.470T>A (p.Met157Lys)Likely pathogenic
not provided
★☆☆☆2025→ Residue 157
NM_012193.4(FZD4):c.314T>G (p.Met105Arg)Pathogenic
not provided
★☆☆☆2025→ Residue 105
NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln)Pathogenic
Exudative vitreoretinopathy, digenic|Exudative vitreoretinopathy 1|not provided
★☆☆☆2025→ Residue 417
NM_012193.4(FZD4):c.856G>T (p.Glu286Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 286
NM_012193.4(FZD4):c.678G>A (p.Trp226Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 226
NM_012193.4(FZD4):c.1328del (p.Leu443fs)Pathogenic
not provided
★☆☆☆2025→ Residue 443
View on ClinVar ↗
Related Genes
ROR1Protein interaction100%ROR2Protein interaction100%AXIN1Protein interaction100%VANGL2Protein interaction99%LRP6Protein interaction99%SFRP1Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Lung
90%
Ovary
50%
Liver
50%
Brain
14%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
FZD4ROR1ROR2AXIN1VANGL2LRP6SFRP1
PROTEIN STRUCTURE
Preparing viewer…
PDB5BPB · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.36Tolerant
Observed/Expected LoF0.40 [0.27–0.61]
RankingsWhere FZD4 stands among ~20K protein-coding genes
  • #3,992of 20,598
    Most Researched118 · top quartile
  • #920of 5,498
    Most Pathogenic Variants81 · top quartile
  • #4,274of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedFZD4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.
PMID: 34860240
Invest Ophthalmol Vis Sci · 2021
1.00
2
Discovering the Role of FZD4 Gene in Human Cutaneous Squamous Cell Carcinoma.
PMID: 35068502
Indian J Dermatol · 2021
0.90
3
Elevated Wnt2 and Wnt4 activate NF-κB signaling to promote cardiac fibrosis by cooperation of Fzd4/2 and LRP6 following myocardial infarction.
PMID: 34911029
EBioMedicine · 2021
0.80
4
Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease.
PMID: 39585982
Proc Natl Acad Sci U S A · 2024
0.70
5
Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.
PMID: 40623591
Prog Retin Eye Res · 2025
0.60