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Aliases for FZD4 Gene

Aliases for FZD4 Gene

  • Frizzled Class Receptor 4 2 3
  • Frizzled 4, Seven Transmembrane Spanning Receptor 2 3
  • Frizzled Family Receptor 4 2 3
  • EVR1 3 6
  • Fz-4 3 4
  • FzE4 3 4
  • HFz4 3 4
  • Frizzled (Drosophila) Homolog 4 2
  • Frizzled Homolog 4 (Drosophila) 2
  • Exudative Vitreoretinopathy 1 2
  • WNT Receptor Frizzled-4 3
  • Frizzled Homolog 4 3
  • CD344 Antigen 4
  • Frizzled-4 3
  • CD344 3
  • FZD4S 3
  • FEVR 3
  • GPCR 3
  • Fz4 3

External Ids for FZD4 Gene

Previous HGNC Symbols for FZD4 Gene

  • EVR1

Previous GeneCards Identifiers for FZD4 Gene

  • GC11U990161
  • GC11M088195
  • GC11M086879
  • GC11M086383
  • GC11M086334
  • GC11M086656
  • GC11M082945

Summaries for FZD4 Gene

Entrez Gene Summary for FZD4 Gene

  • 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 beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]

GeneCards Summary for FZD4 Gene

FZD4 (Frizzled Class Receptor 4) is a Protein Coding gene. Diseases associated with FZD4 include exudative vitreoretinopathy 1 and fzd4-related familial exudative vitreoretinopathy, autosomal dominant. Among its related pathways are Signaling by GPCR and Proteoglycans in cancer. GO annotations related to this gene include G-protein coupled receptor activity and protein heterodimerization activity. An important paralog of this gene is FZD10.

UniProtKB/Swiss-Prot for FZD4 Gene

  • Receptor for Wnt proteins. Most of 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 beta-catenin (CTNNB1) and activation of Wnt target genes. Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP). In retina, it can be both activated by Wnt protein-binding, but also by a Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (CTNNB1) accumulation and stimulation of LEF/TCF-mediated transcriptional programs. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues

Gene Wiki entry for FZD4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FZD4 Gene

Genomics for FZD4 Gene

Regulatory Elements for FZD4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FZD4 Gene

Start:
86,945,675 bp from pter
End:
86,955,398 bp from pter
Size:
9,724 bases
Orientation:
Minus strand

Genomic View for FZD4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FZD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FZD4 Gene

Proteins for FZD4 Gene

  • Protein details for FZD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULV1-FZD4_HUMAN
    Recommended name:
    Frizzled-4
    Protein Accession:
    Q9ULV1
    Secondary Accessions:
    • A8K9Q3
    • Q14C97
    • Q6S9E4

    Protein attributes for FZD4 Gene

    Size:
    537 amino acids
    Molecular mass:
    59881 Da
    Quaternary structure:
    • Interacts with MAGI3 and norrin (NDP). Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP) (By similarity).

neXtProt entry for FZD4 Gene

Proteomics data for FZD4 Gene at MOPED

Post-translational modifications for FZD4 Gene

  • Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.
  • Glycosylation at Asn59 and Asn144
  • Modification sites at PhosphoSitePlus

Other Protein References for FZD4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Protein Products

No data available for DME Specific Peptides for FZD4 Gene

Domains for FZD4 Gene

Gene Families for FZD4 Gene

HGNC:
  • CD :CD molecules
  • FZD :GPCR / Class F : Frizzled receptors
IUPHAR :

Protein Domains for FZD4 Gene

Suggested Antigen Peptide Sequences for FZD4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9ULV1

UniProtKB/Swiss-Prot:

FZD4_HUMAN :
  • Q9ULV1
Domain:
  • Lys-Thr-X-X-X-Trp motif interacts with the PDZ doman of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.
  • The FZ domain is involved in binding with Wnt ligands.
  • Contains 1 FZ (frizzled) domain.
Family:
  • Belongs to the G-protein coupled receptor Fz/Smo family.
genes like me logo Genes that share domains with FZD4: view

Function for FZD4 Gene

Molecular function for FZD4 Gene

GENATLAS Biochemistry: Drosophila frizzled polarity gene homolog 4,G protein coupled receptor superfamily,exhibiting characteristics of a WNT receptor,widely expressed and predominantly in fetal kidney,adult heart,skeletal muscle and ovary
UniProtKB/Swiss-Prot Function: Receptor for Wnt proteins. Most of 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 beta-catenin (CTNNB1) and activation of Wnt target genes. Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP). In retina, it can be both activated by Wnt protein-binding, but also by a Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (CTNNB1) accumulation and stimulation of LEF/TCF-mediated transcriptional programs. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues

Gene Ontology (GO) - Molecular Function for FZD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity --
GO:0004930 G-protein coupled receptor activity IBA --
GO:0005515 protein binding IPI 17955262
GO:0017147 Wnt-protein binding IBA --
GO:0019955 cytokine binding IPI 17955262
genes like me logo Genes that share ontologies with FZD4: view
genes like me logo Genes that share phenotypes with FZD4: view

Animal Models for FZD4 Gene

MGI Knock Outs for FZD4:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FZD4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FZD4 Gene

Localization for FZD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FZD4 Gene

Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FZD4 Gene COMPARTMENTS Subcellular localization image for FZD4 gene
Compartment Confidence
plasma membrane 5
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for FZD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IC 17955262
GO:0005911 cell-cell junction IEA --
GO:0009986 cell surface IDA 19643732
genes like me logo Genes that share ontologies with FZD4: view

Pathways for FZD4 Gene

genes like me logo Genes that share pathways with FZD4: view

PCR Array Products

Gene Ontology (GO) - Biological Process for FZD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001553 luteinization --
GO:0001568 blood vessel development --
GO:0001570 vasculogenesis IEA --
GO:0007166 cell surface receptor signaling pathway --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with FZD4: view

Compounds for FZD4 Gene

(1) HMDB Compounds for FZD4 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(16) Novoseek inferred chemical compound relationships for FZD4 Gene

Compound -log(P) Hits PubMed IDs
bacteriorhodopsin 47.3 4
tyrosine 35.8 5
gtp 31.2 3
gdp 28.5 3
guanine 20.9 2
genes like me logo Genes that share compounds with FZD4: view

Transcripts for FZD4 Gene

mRNA/cDNA for FZD4 Gene

(148) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FZD4 Gene

Frizzled family receptor 4:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FZD4

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for FZD4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FZD4 Gene

No ASD Table

Relevant External Links for FZD4 Gene

GeneLoc Exon Structure for
FZD4
ECgene alternative splicing isoforms for
FZD4

Expression for FZD4 Gene

mRNA expression in normal human tissues for FZD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FZD4 Gene

This gene is overexpressed in Adipose - Subcutaneous (5.9) and Adipose - Visceral (Omentum) (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FZD4 Gene

SOURCE GeneReport for Unigene cluster for FZD4 Gene Hs.591968

mRNA Expression by UniProt/SwissProt for FZD4 Gene

Q9ULV1-FZD4_HUMAN
Tissue specificity: Almost ubiquitous. Largely expressed in adult heart, skeletal muscle, ovary, and fetal kidney. Moderate amounts in adult liver, kidney, pancreas, spleen, and fetal lung, and small amounts in placenta, adult lung, prostate, testis, colon, fetal brain and liver
genes like me logo Genes that share expressions with FZD4: view

In Situ Assay Products

Orthologs for FZD4 Gene

This gene was present in the common ancestor of animals.

Orthologs for FZD4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FZD4 35
  • 99.75 (n)
  • 99.81 (a)
FZD4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FZD4 35
  • 91.56 (n)
  • 97.58 (a)
FZD4 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FZD4 35
  • 92.74 (n)
  • 98.32 (a)
FZD4 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fzd4 35
  • 92.3 (n)
  • 97.02 (a)
Fzd4 16
Fzd4 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FZD4 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FZD4 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fzd4 35
  • 91.19 (n)
  • 97.21 (a)
chicken
(Gallus gallus)
Aves FZD4 35
  • 84.72 (n)
  • 96.83 (a)
FZD4 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FZD4 36
  • 94 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.460 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fzd4 35
  • 79.48 (n)
  • 94.62 (a)
zebrafish
(Danio rerio)
Actinopterygii fzd4 35
  • 72.35 (n)
  • 84.13 (a)
fzd4 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fz2 36
  • 32 (a)
OneToMany
fz4 37
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea mom-5 37
  • 34 (a)
Y34D9B.1b 37
  • 31 (a)
cfz-2 37
  • 34 (a)
mig-1 37
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for FZD4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FZD4 Gene

ENSEMBL:
Gene Tree for FZD4 (if available)
TreeFam:
Gene Tree for FZD4 (if available)

Paralogs for FZD4 Gene

Paralogs for FZD4 Gene

Selected SIMAP similar genes for FZD4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FZD4: view

Variants for FZD4 Gene

Sequence variations from dbSNP and Humsavar for FZD4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs55887860 -- 86,953,464(+) AGGGA(C/T)ATTTT intron-variant
rs369854962 -- 86,953,570(+) ATGTC(-/TGTT)TATTA intron-variant
rs535089281 -- 86,953,420(+) TCTTA(A/G)GCTTT intron-variant
rs555354966 -- 86,953,569(+) TATGT(C/T)TGTTT intron-variant
rs565772237 -- 86,953,581(+) TTATC(C/T)CTCAG intron-variant

Relevant External Links for FZD4 Gene

HapMap Linkage Disequilibrium report
FZD4
Human Gene Mutation Database (HGMD)
FZD4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FZD4 Gene

Disorders for FZD4 Gene

(1) OMIM Diseases for FZD4 Gene (604579)

UniProtKB/Swiss-Prot

FZD4_HUMAN
  • Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history. {ECO:0000269 PubMed:12172548, ECO:0000269 PubMed:14507768, ECO:0000269 PubMed:15035989, ECO:0000269 PubMed:15223780, ECO:0000269 PubMed:15370539, ECO:0000269 PubMed:15488808, ECO:0000269 PubMed:15733276, ECO:0000269 PubMed:15981244, ECO:0000269 PubMed:17093393, ECO:0000269 PubMed:19172507, ECO:0000269 PubMed:19324841, ECO:0000269 PubMed:20340138}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for FZD4 Gene

(9) Novoseek inferred disease relationships for FZD4 Gene

Disease -log(P) Hits PubMed IDs
glioma 23.8 1
retinal detachment 15.3 1
immunodeficiency 5.71 1
colon cancer 0 2
inflammation 0 1

Relevant External Links for FZD4

GeneTests
FZD4
GeneReviews
FZD4
Genetic Association Database (GAD)
FZD4
Human Genome Epidemiology (HuGE) Navigator
FZD4
Tumor Gene Database (TGDB):
FZD4
genes like me logo Genes that share disorders with FZD4: view

Publications for FZD4 Gene

  1. Molecular cloning and characterization of human frizzled-4 on chromosome 11q14-q21. (PMID: 10544037) Kirikoshi H. … Katoh M. (Biochem. Biophys. Res. Commun. 1999) 2 3 4 23
  2. Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. (PMID: 14507768) Kondo H. … Hayashi K. (Br. J. Ophthalmol. 2003) 3 4 23 48
  3. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. (PMID: 15981244) Qin M. … Kondo H. (Hum. Mutat. 2005) 3 4 23 48
  4. Severe retinopathy of prematurity associated with FZD4 mutations. (PMID: 20141357) Ells A. … Robitaille J.M. (Ophthalmic Genet. 2010) 3 4 23 48
  5. Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. (PMID: 19172507) Robitaille J.M. … Guernsey D.L. (Ophthalmic Genet. 2009) 3 4 23

Products for FZD4 Gene

Sources for FZD4 Gene

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