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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Atrophia bulborum hereditaria Pathogenic rs80358284 RCV001002698
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coats disease Likely pathogenic; Pathogenic rs80358295, rs80358284 RCV000210225
RCV000210241
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exudative vitreoretinopathy 1 Pathogenic; Likely pathogenic rs2495866103, rs2495874029, rs2495874344, rs80358301, rs80358303, rs80358294, rs80358292, rs80358295, rs80358284, rs2495867722, rs1408259285, rs1949299271 RCV002285090
RCV002471504
RCV002470362
RCV000005818
RCV000005819
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Exudative vitreoretinopathy, digenic Pathogenic rs80358294 RCV000005821
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARACHNODACTYLY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT PALATE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acrodysostosis Acrodysostosis BEFREE 27908835
★☆☆☆☆
Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia Cushing`s Syndrome BEFREE 20660048
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 12818251
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 21282580
★☆☆☆☆
Found in Text Mining only
Albinism Albinism BEFREE 18828673
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 29393391
★☆☆☆☆
Found in Text Mining only
Arachnodactyly Arachnodactyly CTD_human_DG 17103440
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Arthritis BEFREE 30576947
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35352610 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 11728229, 17154652, 21392828, 31767622
★☆☆☆☆
Found in Text Mining only