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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FZD4 Gene

protein-coding   GIFtS: 67
GCID: GC11M086656

frizzled family receptor 4

(Previous names: frizzled (Drosophila) homolog 4, exudative vitreoretinopathy...)
(Previous symbol: EVR1)
 Explore 25 diseases affiliated with
FZD4 via our new
 Human Malady Compendium 
Biological research products
for FZD4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Frizzled Family Receptor 41 2     Frizzled Homolog 4 (Drosophila)1
EVR11 2 5     FEVR2
CD3441 2     FZD4S2
Frizzled 4, Seven Transmembrane Spanning Receptor1 2     Fz42
Fz-42 3     GPCR2
FzE42 3     Frizzled Homolog 42
HFz41     Frizzled-41
Exudative Vitreoretinopathy 11     WNT Receptor Frizzled-42
Frizzled (Drosophila) Homolog 41     CD344 Antigen3

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FZD4:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FZD4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
86,656,721 bp from pter      End:
86,666,433 bp from pter
Size:
9,713 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: A8K9Q3 Q14C97 Q6S9E4

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

Post-translational modifications:

  • Ubiquitinated by ZNRF3, leading to its degradation by the proteasome1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9ULV1

  • FZD4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036325.2  
    ENSEMBL proteins: 
     ENSP00000434034  
    Reactome Protein details: Q9ULV1
    Human Recombinant Protein Products: 
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    R&D Systems Recombinant & Natural Proteins for FZD4 (Frizzled-4)
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FZD4

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IBA--
    GO:0005886plasma membrane IDA12172548
    GO:0005887integral to plasma membrane IC17955262
    GO:0005911cell-cell junction IEA--
    GO:0009986cell surface IDA19643732


    FZD4 for ontologies           About GeneDecksing



    FZD4 Antibody Products: 
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    Uscn ELISAs and CLIAs for FZD4


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FZD4 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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

    miRNA
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    8/168 QIAGEN miScript miRNA 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
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    Gene Editing
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FZD4

    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0005515protein binding IPI--
    GO:0017147Wnt-protein binding IBA--
    GO:0019955cytokine binding IPI17955262
    GO:0030165PDZ domain binding IPI19388021


    FZD4 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Fzd4tm1.1Lex for FZD4
         15/19 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  hearing/vestibular/ear  homeostasis/metabolism  integument 
     mortality/aging  muscle  nervous system  no phenotypic analysis  normal 

    FZD4 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/18 super-pathways (see all 18About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt Signaling Pathway
    Wnt Signaling Pathway and Pluripotency0.55
    Wnt signaling pathway0.30
    Wnt Signaling Pathway0.33
    Wnt Signaling Pathway NetPath0.22
    2Translation_Non-genomic (rapid) action of Androgen Receptor
    Translation_Non-genomic (rapid) action of Androgen Receptor1.00
    Translation Non-genomic (rapid) action of Androgen Receptor0.99
    3Transcription_Androgen Receptor nuclear signaling
    Transcription_Androgen Receptor nuclear signaling1.00
    Transcription Androgen Receptor nuclear signaling0.99
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency1.00
    GSK3 Signaling0.61
    5Human Embryonic Stem Cell Pluripotency
    Human Embryonic Stem Cell Pluripotency1.00
    Factors Promoting Cardiogenesis in Vertebrates0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for FZD4
        Transcription Androgen Receptor nuclear signaling
    Translation Non-genomic (rapid) action of Androgen Receptor

    1 R&D Systems Pathway for FZD4
        Wnt Signaling Pathway

    5/11 Downloadable PowerPoint Slides of QIAGEN 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

    4        Reactome Pathways for FZD4
        Signal Transduction
    Signaling by GPCR
    GPCR ligand binding
    Class B/2 (Secretin family receptors)


    4         Kegg Pathways  (Kegg details for FZD4):
        Wnt signaling pathway
    Melanogenesis
    Pathways in cancer
    Basal cell carcinoma


    FZD4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FZD4

    5/14 Interacting proteins for FZD4 (Q9ULV11, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRELD2Q6UXH12, 3MINT-8255525 I2D: score=1 
    DLG4P783523I2D: score=3 
    DLG1Q129593I2D: score=2 
    DLG2Q157003I2D: score=2 
    ARRB2P321213I2D: score=1 
    About this table

    Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001553luteinization ----
    GO:0001568blood vessel development ----
    GO:0001570vasculogenesis IBA--
    GO:0007223Wnt receptor signaling pathway, calcium modulating pathway IDA12172548
    GO:0007420brain development IBA--


    FZD4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FZD4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FZD4

    1 HMDB Compound for FZD4    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    10/16 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about FZD4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

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    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
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FZD4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FZD4

    Additional cDNA 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 

    24/148 AceView cDNA sequences (see all 148):

    AI972978 W61276 BI964700 N22434 AK025516 AA677200 BI757553 BM713240 
    BE695760 AL598756 AW376698 BM719232 AA460244 AI381215 AA922802 BM676363 
    AA040101 BP345220 AA886232 BG030556 BE695755 AA152099 NM_012193 BE825879 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FZD4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCTGAATGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    FZD4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeHead MesenchymeHead Mesenchyme
    LiverLiver BudLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 8 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)
    Endothelial cells and neural cells (Derivation of blood-...)
    Primitive gut tube-like cells (A scalable, suspensi...)

    See FZD4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FZD4

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FZD4 gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FZD41 frizzled family receptor 4 83.88(n)
    95.59(a)
      373887  NM_204099.1  NP_989430.1 
    lizard
    (Anolis carolinensis)
    Reptilia FZD46
    --
    93(a)
    1 ↔ 1
    3(200019382-200029207)
    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 LOC1003336511 frizzled-4-like 72.15(n)
    83.56(a)
      100333651  XM_002664725.2  XP_002664771.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta fz43 signal transduction transmembrane receptor 33(a)   6F5   --
    worm
    (Caenorhabditis elegans)
    Secernentea mom-53 Drosophila tissue polarity protein like 34(a)
    (best of 4)
      I(9973695-9977388)   --


    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)
    About This Section
    Paralogs for FZD4 gene
    FZD102  FZD32  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

    FZD4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/220 NCBI SNPs in FZD4 are shown (see all 220    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803582941,2
    Cpathogenic86662548(-) AATTCA/C/GGTCAA 3 Q P R mis10--------
    rs803582931,2
    C,pathogenic86662774(-) TTGAAA/GTGCAC 2 M V mis10--------
    rs617353031,2
    C,F,pathogenic86663296(+) TAAGGG/ACACCT 2 /P /S mis14Minor allele frequency- A:0.02NS NA EU 6065
    rs803582821,2
    C,F,pathogenic86665923(-) TTGGGC/TACGAG 3 H Y mis1 us2k11Minor allele frequency- T:0.00NA 4334
    rs617353041,2
    C,F,pathogenic86666031(+) CGCCGG/ACCCCA 3 /P /S mis1 us2k13Minor allele frequency- A:0.01NS NA EU 3598
    rs795798071,2
    F,--86656290(+) TTTCCC/TTTCCC 1 -- ds50011Minor allele frequency- T:0.03NA 120
    rs775032701,2
    F,--86656355(+) TCAGAT/ATAAGT 1 -- ds50012Minor allele frequency- A:0.03WA NA 238
    rs1496962511,2
    --86656452(+) GAACTA/GTAGTT 1 -- ds50010--------
    rs1453157441,2
    --86656459(+) AGTTAC/TATCCA 1 -- ds50010--------
    rs771354321,2
    --86656477(+) ATGTGA/GCCTAC 1 -- ds50011Minor allele frequency- G:0.01WA 118

    HapMap Linkage Disequilibrium report for FZD4 (86656721 - 86666433 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FZD4: --
    Human Gene Mutation Database (HGMD): FZD4

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    (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.)
    About This Section

    FZD4 for disorders           About GeneDecksing

    OMIM gene information: 604579   
    OMIM disorders: 133780  
    UniProtKB/Swiss-Prot: FZD4_HUMAN, Q9ULV1
  • Defects in FZD4 are the cause of vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]; also known as
  • autosomal dominant familial exudative vitreoretinopathy (FEVR) or Criswick-Schepens syndrome. EVR1 is 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

    20/25 diseases for FZD4 (see all 25):    About MalaCards
    exudative vitreoretinopathy    familial exudative vitreoretinopathy, autosomal dominant    vitreoretinopathy    osteoporosis-pseudoglioma syndrome
    retinal detachment    coats disease    norrie disease    basal cell carcinoma
    acute myeloid leukemia    myeloid leukemia    retinopathy of prematurity    osteoporosis
    retinitis    esophageal carcinoma    colon carcinoma    esophagitis
    blindness    immunodeficiency    colorectal cancer    leukemia

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

    9 Novoseek 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
    Familial Exudative Vitreoretinopathy, Autosomal Dominant

    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)
    About This Section

    PubMed articles for FZD4 gene, integrated from 9 sources (see all 164):
    (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. (1999)
    2. 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. (2005)
    3. Severe retinopathy of prematurity associated with FZD 4 mutations. (PubMed id 20141357)1, 2, 9 Ells A....Robitaille J.M. (2010)
    4. 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. (2004)
    5. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. (PubMed id 15223780)1, 2, 9 Toomes C....Inglehearn C.F. (2004)
    6. Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. (PubMed id 17093393)1, 2, 9 Nallathambi J....Sundaresan P. (2006)
    7. 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. (2004)
    8. Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. (PubMed id 14507768)2, 4, 9 Kondo H....Hayashi K. (2003)
    9. 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. (2009)
    10. Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. (PubMed id 15488808)1, 2, 9 Yoshida S....Ishibashi T. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8322 HGNC: 4042 AceView: FZD4 Ensembl:ENSG00000174804 euGenes: HUgn8322
    ECgene: FZD4 Kegg: 8322 H-InvDB: FZD4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/FZD4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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