Gene Gene information from NCBI Gene database.
Entrez ID 8322
Gene name Frizzled class receptor 4
Gene symbol FZD4
Synonyms (NCBI Gene)
CD344EVR1FEVRFZD4SFz-4Fz4FzE4GPCRhFz4
Chromosome 11
Chromosome location 11q14.2
Summary This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the be
miRNA miRNA information provided by mirtarbase database.
1074
miRTarBase ID miRNA Experiments Reference
MIRT019965 hsa-miR-375 Microarray 20215506
MIRT024639 hsa-miR-215-5p Microarray 19074876
MIRT026574 hsa-miR-192-5p Microarray 19074876
MIRT030528 hsa-miR-24-3p Microarray 19748357
MIRT046072 hsa-miR-125b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
84
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001540 Function Amyloid-beta binding IPI 18234671
GO:0001553 Process Luteinization IEA
GO:0001568 Process Blood vessel development IEA
GO:0001570 Process Vasculogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604579 4042 ENSG00000174804
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULV1
Protein name Frizzled-4 (Fz-4) (hFz4) (FzE4) (CD antigen CD344)
Protein function Receptor for Wnt proteins (PubMed:30135577). Most frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of
PDB 5BPB , 5BPQ , 5BQC , 5BQE , 5CL1 , 5CM4 , 5UWG , 6BD4 , 6NE1 , 8WM9 , 8WMA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01392 Fz 45 153 Fz domain Domain
PF01534 Frizzled 210 511 Frizzled/Smoothened family membrane region Family
Tissue specificity TISSUE SPECIFICITY: Almost ubiquitous (PubMed:10544037). Largely expressed in adult heart, skeletal muscle, ovary, and fetal kidney (PubMed:10544037). Moderate amounts in adult liver, kidney, pancreas, spleen, and fetal lung, and small amounts in placenta
Sequence
Sequence length 537
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  Ca2+ pathway
Asymmetric localization of PCP proteins
Regulation of FZD by ubiquitination
WNT5A-dependent internalization of FZD4
RNF mutants show enhanced WNT signaling and proliferation
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
183
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atrophia bulborum hereditaria Pathogenic rs80358284 RCV001002698
Coats disease Likely pathogenic; Pathogenic rs80358295, rs80358284 RCV000210225
RCV000210241
Exudative vitreoretinopathy 1 Pathogenic; Likely pathogenic rs2495866103, rs2495874029, rs2495874344, rs80358301, rs80358303, rs80358294, rs80358292, rs80358295, rs80358284, rs2495867722, rs1408259285, rs1949299271 RCV002285090
RCV002471504
RCV002470362
RCV000005818
RCV000005819
RCV000005820
RCV000005823
RCV002250600
RCV000763285
RCV003313732
RCV001270177
RCV001270178
Exudative vitreoretinopathy, digenic Pathogenic rs80358294 RCV000005821
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Retinopathy of prematurity Conflicting classifications of pathogenicity rs104894223 RCV000005824
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 30841855
Arthritis Rheumatoid Associate 35352610
Barrett Esophagus Associate 30841855
Breast Neoplasms Associate 34457116
Carcinoma Hepatocellular Associate 28671046
Carcinoma Non Small Cell Lung Associate 18057535, 23378343
Carcinoma Ovarian Epithelial Associate 30054336
Cataract Associate 30882657
Colonic Neoplasms Associate 17386109
Colorectal Neoplasms Associate 32744689