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FZD4 Gene

protein-coding   GIFtS: 68
GCID: GC11M086656

Frizzled Class Receptor 4

(Previous names: frizzled (Drosophila) homolog 4, exudative vitreoretinopathy...)
(Previous symbol: EVR1)
  See FZD4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Frizzled Class Receptor 41 2     CD3442
EVR11 2 5     FEVR2
Frizzled 4, Seven Transmembrane Spanning Receptor1 2     FZD4S2
Frizzled Family Receptor 41 2     Fz42
Fz-42 3     GPCR2
FzE42 3     Frizzled Homolog 42
hFz42 3     frizzled-42
Exudative Vitreoretinopathy 11     WNT Receptor Frizzled-42
Frizzled (Drosophila) Homolog 41     CD344 Antigen3
Frizzled Homolog 4 (Drosophila)1     

External Ids:    HGNC: 40421   Entrez Gene: 83222   Ensembl: ENSG000001748047   OMIM: 6045795   UniProtKB: Q9ULV13   

Export aliases for FZD4 gene to outside databases

Previous GC identifers: GC11U990161 GC11M088195 GC11M086879 GC11M086383 GC11M086334 GC11M082945


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and retinopathy of prematurity. GO annotations related to this gene include G-protein coupled receptor activity and protein heterodimerization activity. An important paralog of this gene is FZD3.

UniProtKB/Swiss-Prot: FZD4_HUMAN, Q9ULV1
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 Wiki entry for FZD4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FZD4 gene promoter:
         STAT5B   C/EBPbeta   Pbx1a   Sp1   Bach2   Lmo2   MIF-1   GATA-1   AREB6   Nkx6-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFZD4 promoter sequence
   Search Chromatin IP Primers for FZD4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FZD4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q14.2   Ensembl cytogenetic band:  11q14.2   HGNC cytogenetic band: 11q14-q21

FZD4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FZD4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M086656:  view genomic region     (about GC identifiers)

Start:
86,656,717 bp from pter      End:
86,666,440 bp from pter
Size:
9,724 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FZD4_HUMAN, Q9ULV1 (See protein sequence)
Recommended Name: Frizzled-4 precursor  
Size: 537 amino acids; 59881 Da
Subunit: Interacts with MAGI3 and norrin (NDP). Component of a complex, at least composed of TSPAN12, FZD4 and
norrin (NDP) (By similarity)
Secondary accessions: A8K9Q3 Q14C97 Q6S9E4

Explore the universe of human proteins at neXtProt for FZD4: NX_Q9ULV1

Explore proteomics data for FZD4 at MOPED

Post-translational modifications: 

  • Ubiquitinated by ZNRF3, leading to its degradation by the proteasome1
  • Glycosylation2 at Asn59, Asn144

  • See FZD4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036325.2  
    ENSEMBL proteins: 
     ENSP00000434034  
    Reactome Protein details: Q9ULV1

    FZD4 Human Recombinant Protein Products:

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    Novus Biologicals FZD4 Lysate
    Sino Biological Recombinant Protein for FZD4
    Sino Biological Cell Lysate for FZD4
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FZD4

     
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    antibodies-online proteins for FZD4 (5 products) 

     
    antibodies-online peptides for FZD4

    FZD4 Antibody Products:

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    Novus Biologicals FZD4 Antibodies
    Search for Antibodies for FZD4 at Abcam
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    ThermoFisher Antibodies for FZD4
    antibodies-online antibodies for FZD4 (65 products) 

    FZD4 Assay Products:

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    Cloud-Clone Corp. ELISAs for FZD4
    Cloud-Clone Corp. CLIAs for FZD4
    Search eBioscience for ELISAs for FZD4 
    antibodies-online kits for FZD4 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    FZD: GPCR / Class F : Frizzled receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: FZD4
    Frizzled Class GPCRs

    5 InterPro protein domains:
     IPR000539 Frizzled
     IPR020067 Frizzled_dom
     IPR026551 FZD4
     IPR015526 Frizzled/SFRP
     IPR017981 GPCR_2-like

    Graphical View of Domain Structure for InterPro Entry Q9ULV1

    ProtoNet protein and cluster: Q9ULV1

    1 Blocks protein domain: IPB000539 Frizzled protein signature

    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 (By similarity)
    Domain: The FZ domain is involved in binding with Wnt ligands (By similarity)
    Similarity: Belongs to the G-protein coupled receptor Fz/Smo family
    Similarity: Contains 1 FZ (frizzled) domain


    Find genes that share domains with FZD4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FZD4_HUMAN, Q9ULV1
    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

         Genatlas biochemistry entry for FZD4:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity ----
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0005515protein binding IPI17955262
    GO:0017147Wnt-protein binding IBA--
    GO:0019955cytokine binding IPI17955262
         
    Find genes that share ontologies with FZD4           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Fzd4) (see all 19):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  integument 
     mortality/aging  muscle  nervous system  no phenotypic analysis  normal 

    Find genes that share phenotypes with FZD4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Fzd4tm1.1Lex for FZD4

       genOway: Develop your customized and physiologically relevant rodent model for FZD4

    miRNA
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    miRTarBase miRNAs that target FZD4:
    hsa-mir-125b-5p (MIRT046072), hsa-mir-24-3p (MIRT030528), hsa-mir-375 (MIRT019965), hsa-mir-192-5p (MIRT026574), hsa-mir-215-5p (MIRT024639)

    Block miRNA regulation of human, mouse, rat FZD4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FZD4 (see all 168):
    hsa-miR-3938 hsa-miR-1224-3p hsa-miR-106a hsa-miR-605 hsa-miR-1260b hsa-miR-1245 hsa-miR-4275 hsa-miR-208b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FZD4

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: FZD4 (NM_012193)
    Sino Biological Human cDNA Clone for FZD4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FZD4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FZD4

    Cell Line
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FZD4_HUMAN, Q9ULV1: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IBA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IC17955262
    GO:0005911cell-cell junction IEA--
    GO:0009986cell surface IDA19643732

    Find genes that share ontologies with FZD4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FZD4 About   (see all 24)  
    See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    Wnt Signaling Pathway NetPath0.37
    Wnt Signaling Pathways0.40
    2beta-catenin independent WNT signaling
    beta-catenin independent WNT signaling0.79
    Ca2+ pathway0.43
    Signaling by Wnt0.79
    3CDK-mediated phosphorylation and removal of Cdc6
    Asymmetric localization of PCP proteins0.75
    WNT5A-dependent internalization of FZD40.00
    PCP/CE pathway0.70
    4Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    5Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    GSK3 Signaling0.61


    Find genes that share SuperPaths with FZD4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for FZD4
        Wnt Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for FZD4 (see all 11)
        Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    G12-G13 in Cellular Signaling
    Colorectal Cancer Metastasis
    Glioblastoma Multiforme

    2 GeneGo (Thomson Reuters) Pathways for FZD4
        Transcription Androgen Receptor nuclear signaling
    Translation Non-genomic (rapid) action of Androgen Receptor

    3 BioSystems Pathways for FZD4
        Wnt Signaling Pathway and Pluripotency
    Wnt Signaling Pathway NetPath
    Wnt signaling network

    2 Sino Biological Pathways for FZD4
        Canonical Wnt Pathway
    Non-Canonical Wnt Pathway

    4 Reactome Pathways for FZD4
        regulation of FZD by ubiquitination
    Ca2+ pathway
    WNT5A-dependent internalization of FZD4
    Class B/2 (Secretin family receptors)


    Selected Kegg Pathways  (Kegg details for FZD4) (see all 7):
        Wnt signaling pathway
    Hippo signaling pathway
    Melanogenesis
    HTLV-I infection
    Pathways in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FZD4: 
              G Protein Coupled Receptors 384HT in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FZD4

    Selected Interacting proteins for FZD4 (Q9ULV11, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRELD2Q6UXH12, 3MINT-8255525 I2D: score=1 
    NDPQ006041, 3EBI-2466380,EBI-2466352 I2D: score=1 
    BAG6P463793I2D: score=1 
    ENSG00000096155P463793I2D: score=1 
    ENSG00000227761P463793I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001553luteinization ----
    GO:0001568blood vessel development ----
    GO:0001570vasculogenesis IBA--
    GO:0007166cell surface receptor signaling pathway ----
    GO:0007223Wnt signaling pathway, calcium modulating pathway IDA12172548

    Find genes that share ontologies with FZD4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FZD4

    1 HMDB Compound for FZD4    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected Novoseek inferred chemical compound relationships for FZD4 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bacteriorhodopsin 47.3 10 11741263 (1), 12825452 (1), 11440183 (1), 9749370 (1)
    tyrosine 35.8 7 17786953 (1), 20045494 (1), 15123705 (1), 18537556 (1) (see all 5)
    gtp 31.2 3 16957986 (1), 19836958 (1), 19513648 (1)
    gdp 28.5 3 16957986 (1), 11583165 (1), 19836958 (1)
    guanine 20.9 2 11316815 (1), 17059215 (1)
    glutamate 13.1 5 11672421 (1), 12470711 (1), 18452600 (1)
    fmlp 10.1 1 11497243 (1)
    phosphotyrosine 9.92 1 11836402 (1)
    cgmp 0 2 14977528 (1), 16046659 (1)
    nitric oxide 0 1 16046659 (1)



    Find genes that share compounds with FZD4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FZD4 gene: 
    NM_012193.3  

    Unigene Cluster for FZD4:

    Frizzled family receptor 4
    Hs.591968  [show with all ESTs]
    Unigene Representative Sequence: NM_012193
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000531380(uc001pce.3)
    miRNA
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    Additional mRNA sequence: 

    AB032417.1 AK025516.1 AK025791.1 AK292768.1 AY462097.1 BC025750.1 BC114527.1 BC114622.1 

    9 DOTS entries:

    DT.217067  DT.100660318  DT.100787140  DT.100787138  DT.120735228  DT.97847183  DT.120735301  DT.100787139 
    DT.95169266 

    Selected AceView cDNA sequences (see all 148):

    BE825879 AY462097 BM713240 AI249934 BM719232 AI972978 BG030556 AA040101 
    N22434 AK025516 AA769897 AA460244 AA937347 BE695755 AA877206 BI757553 
    AW376773 BM676363 AK025791 AW376698 AB054881 AA953349 CA312361 AL598756 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    FZD4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTGAATGA
    FZD4 Expression
    About this image


    FZD4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 4D20.8, NCr-fac Progenitor
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem E15, Meso-prx/latp Progenitor
     
     NULL (Uncategorized)
             Endothelial cells and neural cells
     
     Kidney (Urinary System)
             Metanephros
     
     Neural Tube (Nervous System)
             Metencephalon
    FZD4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FZD4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591968

    UniProtKB/Swiss-Prot: FZD4_HUMAN, Q9ULV1
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FZD4: 
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              Notch Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FZD4 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fzd41 , 5 frizzled homolog 4 (Drosophila)1, 5 92.3(n)1
    97.02(a)1
      7 (49.32 cM)5
    143661  NM_008055.41  NP_032081.31 
     894043665 
    chicken
    (Gallus gallus)
    Aves FZD41 frizzled family receptor 4 84.72(n)
    96.83(a)
      373887  NM_204099.1  NP_989430.1 
    lizard
    (Anolis carolinensis)
    Reptilia FZD46
    frizzled family receptor 4
    94(a)
    1 ↔ 1
    3(200019300-200029207)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.4602 Xenopus laevis mRNA for frizzled 4 protein (fz4 gene) 80.76(n)    AJ251750.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fzd41 frizzled homolog 4 72.35(n)
    84.13(a)
      30363  XM_005173425.1  XP_005173482.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fz43 signal transduction transmembrane
    receptor
    33(a)   6F5   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FZD4 gene
    FZD32  FZD102  FZD82  FZD12  FZD52  FZD22  FZD92  SFRP42  
    SMO2  FZD62  SFRP12  FRZB2  FZD72  SFRP52  SFRP22  
    10 SIMAP similar genes for FZD4 using alignment to 2 protein entries:     FZD4_HUMAN (see all proteins):
    GPCR    FZD10    FZD9    FZD1    FZD5    FZD7
    FZD2    FZD6    FZD3    FZD8

    Find genes that share paralogs with FZD4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FZD4 (see all 313)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803582821,2,,4
    C,FVitreoretinopathy, exudative 1 (EVR1)4 pathogenic186533839(-) TTGGGC/TACGAG 2 H Y mis11Minor allele frequency- T:0.00NA 4334
    rs617353041,2,,4
    C,FVitreoretinopathy, exudative 1 (EVR1)4 pathogenic186533947(+) CGCCGG/ACCCCA 2 /P /S mis13Minor allele frequency- A:0.01NS NA EU 3598
    VAR_0639324
    Vitreoretinopathy, exudative 1 (EVR1)4--see VAR_0639322 I V mis40--------
    VAR_0639224
    Vitreoretinopathy, exudative 1 (EVR1)4--see VAR_0639222 E Q mis40--------
    VAR_0364134
    A colorectal cancer sample4--see VAR_0364132 K T mis40--------
    VAR_0639384
    Vitreoretinopathy, exudative 1 (EVR1)4--see VAR_0639382 G D mis40--------
    VAR_0639364
    Vitreoretinopathy, exudative 1 (EVR1)4--see VAR_0639362 R Q mis40--------
    VAR_0389484
    Vitreoretinopathy, exudative 1 (EVR1)4--see VAR_0389482 M V mis40--------
    VAR_0639374
    Vitreoretinopathy, exudative 1 (EVR1)4--see VAR_0639372 T P mis40--------
    VAR_0639314
    Vitreoretinopathy, exudative 1 (EVR1)4--see VAR_0639312 M K mis40--------

    HapMap Linkage Disequilibrium report for FZD4 (86656717 - 86666440 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FZD4: --
    Human Gene Mutation Database (HGMD): FZD4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FZD4
    DNA2.0 Custom Variant and Variant Library Synthesis for FZD4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604579   
    OMIM disorders: 133780  
    UniProtKB/Swiss-Prot: FZD4_HUMAN, Q9ULV1
  • 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for FZD4:    
    About MalaCards
    exudative vitreoretinopathy    retinopathy of prematurity    fzd4-related familial exudative vitreoretinopathy, autosomal dominant    familial exudative vitreoretinopathy, autosomal dominant
    persistent hyperplastic primary vitreous    osteoporosis-pseudoglioma syndrome    retinal detachment    norrie disease
    coats disease

    3 diseases from the University of Copenhagen DISEASES database for FZD4:
    Exudative vitreoretinopathy     Retinopathy of prematurity     Retinal detachment

    Find genes that share disorders with FZD4           About GenesLikeMe

    9 Novoseek inferred disease relationships for FZD4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glioma 23.8 1 10233994 (1)
    retinal detachment 15.3 1 14507768 (1)
    immunodeficiency 5.71 1 10497246 (1)
    colon cancer 0 2 17386109 (1), 15749028 (1)
    inflammation 0 1 17786953 (1)
    cardiac hypertrophy 0 1 14641026 (1)
    metastasis 0 1 16896192 (1)
    tumors 0 7 17386109 (2), 16896192 (1), 15749028 (1), 14734786 (1)
    cancer 0 5 17386109 (1), 19860666 (1), 10544037 (1), 18718806 (1)

    GeneTests: FZD4
    GeneReviews: FZD4
    Genetic Association Database (GAD): FZD4
    Human Genome Epidemiology (HuGE) Navigator: FZD4 (11 documents)
    Tumor Gene Database (TGDB): FZD4

    Export disorders for FZD4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FZD4 gene, integrated from 10 sources (see all 167):
    (articles sorted by number of sources associating them with FZD4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of human frizzled-4 on chromosome 11q14-q21. (PubMed id 10544037)1, 2, 3, 9 Kirikoshi H....Katoh M. (Biochem. Biophys. Res. Commun. 1999)
    2. Severe retinopathy of prematurity associated with FZD4 mutations. (PubMed id 20141357)1, 2, 4, 9 Ells A....Robitaille J.M. (Ophthalmic Genet. 2010)
    3. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. (PubMed id 15981244)1, 2, 4, 9 Qin M.... Kondo H. (Hum. Mutat. 2005)
    4. Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. (PubMed id 14507768)1, 2, 4, 9 Kondo H.... Hayashi K. (Br. J. Ophthalmol. 2003)
    5. Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene. (PubMed id 20008721)1, 4, 9 Drenser K.A....Trese M.T. (Arch. Ophthalmol. 2009)
    6. Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). (PubMed id 15370539)1, 2, 9 Omoto S.... Ueoka Y. (Ophthalmic Genet. 2004)
    7. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. (PubMed id 15223780)1, 2, 9 Toomes C.... Inglehearn C.F. (Invest. Ophthalmol. Vis. Sci. 2004)
    8. Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. (PubMed id 17093393)1, 2, 9 Nallathambi J.... Sundaresan P. (Mol. Vis. 2006)
    9. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. (PubMed id 15024691)1, 3, 9 Toomes C.... Inglehearn C.F. (Am. J. Hum. Genet. 2004)
    10. Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. (PubMed id 19172507)1, 2, 9 Robitaille J.M.... Guernsey D.L. (Ophthalmic Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8322 HGNC: 4042 AceView: FZD4 Ensembl:ENSG00000174804 euGenes: HUgn8322
    ECgene: FZD4 Kegg: 8322 H-InvDB: FZD4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FZD4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FZD4 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FZD4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FZD4 gene:
    Search GeneIP for patents involving FZD4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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