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

FZD6 Gene

protein-coding   GIFtS: 66
GCID: GC08P104267

frizzled family receptor 6

(Previous names: frizzled (Drosophila) homolog 6, frizzled homolog 6 (Drosophila),...)
 Explore 18 diseases affiliated with
FZD6 via our new
 Human Malady Compendium 
Biological research products
for FZD6
    

(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 61 2     HFZ62
Frizzled 6, Seven Transmembrane Spanning Receptor1 2     NDNC102
Hfz61     Frizzled Homolog 62
Frizzled (Drosophila) Homolog 61     Frizzled-61
Frizzled Homolog 6 (Drosophila)1     Seven Transmembrane Helix Receptor2
FZ-62     Fz-63
FZ62     HFz61

External Ids:    HGNC: 40441   Entrez Gene: 83232   Ensembl: ENSG000001649307   OMIM: 6034095   UniProtKB: O603533   

Export aliases for FZD6 gene to outside databases

Previous GC identifers: GC08P103316 GC08P104379 GC08P103979 GC08P099511


(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 FZD6:
This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are
receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a
cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family
members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative
regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic
transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript
variants, some of which do not encode a protein with a predicted signal peptide.(provided by RefSeq, Aug 2011)

UniProtKB/Swiss-Prot: FZD6_HUMAN, O60353
Function: Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling
pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of
beta-catenin and activation of Wnt target genes. 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 FZD6


(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_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FZD6 gene promoter:
         AML1a   HTF   STAT5A   LCR-F1   POU2F1   E2F-1   E2F   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFZD6 promoter sequence
   Search SABiosciences Chromatin IP Primers for FZD6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FZD6


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

Entrez Gene cytogenetic band: 8q22.3-q23.1   Ensembl cytogenetic band:  8q22.3   HGNC cytogenetic band: 8q22.3-q23.1

FZD6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FZD6 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P104267:  view genomic region     (about GC identifiers)

Start:
104,310,661 bp from pter      End:
104,345,094 bp from pter
Size:
34,434 bases      Orientation:
plus 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: FZD6_HUMAN, O60353 (See protein sequence)
Recommended Name: Frizzled-6 precursor  
Size: 706 amino acids; 79292 Da
Subcellular location: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: B4DRN0 Q6N0A5 Q6P9C3 Q8WXR9
Alternative splicing: 2 isoforms:  O60353-1   O60353-2   

Explore the universe of human proteins at neXtProt for FZD6: NX_O60353

Post-translational modifications:

  • Ubiquitinated by ZNRF3, leading to its degradation by the proteasome (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60353

  • FZD6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001158087.1  NP_001158088.1  NP_003497.2  

    ENSEMBL proteins: 
     ENSP00000429055   ENSP00000428301   ENSP00000428257   ENSP00000429528   ENSP00000427733  
     ENSP00000428188   ENSP00000351605   ENSP00000443757  
    Reactome Protein details: O60353
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FZD6

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IBA--
    GO:0005886plasma membrane IDA--
    GO:0005887integral to plasma membrane ISS15265686
    GO:0016021integral to membrane ----
    GO:0016327apicolateral plasma membrane IBA--


    FZD6 for ontologies           About GeneDecksing



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

    FZD6 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000539 Frizzled
     IPR026543 FZD6
     IPR020067 Frizzled_dom
     IPR015526 Frizzled/SFRP
     IPR017981 GPCR_2-like

    Graphical View of Domain Structure for InterPro Entry O60353

    ProtoNet protein and cluster: O60353

    1 Blocks protein family: IPB000539 Frizzled protein signature

    UniProtKB/Swiss-Prot: FZD6_HUMAN, O60353
    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: FZD6_HUMAN, O60353
    Function: Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling
    pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of
    beta-catenin and activation of Wnt target genes. 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 FZD6:
    Drosophila frizzled polarity gene homolog,G protein coupled receptor superfamily,exhibiting characteristics of a WNT
    receptor,expressed in various normal adult and fetal tissues,involved in signal transduction,activating Dishevelled

    miRNA
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    hsa-miR-607 hsa-miR-302d hsa-miR-520e hsa-miR-15a hsa-miR-301a hsa-miR-519a hsa-miR-424 hsa-miR-372
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0005515protein binding IPI10347172
    GO:0017147Wnt-protein binding ISS15265686
    GO:0030165PDZ domain binding IBA--
    GO:0031625ubiquitin protein ligase binding IPI--


    FZD6 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Fzd6tm1Lex for FZD6
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Fzd6):
     embryogenesis  hearing/vestibular/ear  integument  limbs/digits/tail  mortality/aging 
     nervous system  normal  reproductive system  vision/eye 

    FZD6 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 - 5/19 super-pathways (see all 19About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt Signaling Pathway
    Wnt Signaling Pathway1.00
    Wnt signaling pathway0.30
    Wnt Signaling Pathway and Pluripotency0.55
    Wnt Signaling Pathway NetPath0.22
    Wnt Signaling Pathway0.33
    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 FZD6
        Transcription Androgen Receptor nuclear signaling
    Translation Non-genomic (rapid) action of Androgen Receptor

    1 R&D Systems Pathway for FZD6
        Wnt Signaling Pathway

    5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FZD6 (see all 11)
        Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    G12-G13 in Cellular Signaling
    Colorectal Cancer Metastasis
    Glioblastoma Multiforme

    1 Cell Signaling Technology (CST) Pathway for FZD6
        Wnt / Hedgehog / Notch

    2 GeneGo (Thomson Reuters) Pathways for FZD6
        Transcription Androgen Receptor nuclear signaling
    Translation Non-genomic (rapid) action of Androgen Receptor

    4 BioSystems Pathways for FZD6 
        Wnt Signaling Pathway and Pluripotency
    Wnt Signaling Pathway
    Wnt Signaling Pathway NetPath
    Wnt signaling network

    4        Reactome Pathways for FZD6
        Signal Transduction
    Signaling by GPCR
    GPCR ligand binding
    Class B/2 (Secretin family receptors)


    4         Kegg Pathways  (Kegg details for FZD6):
        Wnt signaling pathway
    Melanogenesis
    Pathways in cancer
    Basal cell carcinoma


    FZD6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FZD6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/38 Interacting proteins for FZD6 (O603533 ENSP000003516054) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WNT4P567053, ENSP000002901674I2D: score=2 STRING: ENSP00000290167
    SFRP1Q8N4743, ENSP000002207724I2D: score=2 STRING: ENSP00000220772
    CTHRC1ENSP000003305234STRING: ENSP00000330523
    DVL1ENSP000003681694STRING: ENSP00000368169
    DVL2ENSP000000053404STRING: ENSP00000005340
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IBA--
    GO:0001736establishment of planar polarity IBA--
    GO:0001843neural tube closure IBA--
    GO:0001942hair follicle development IEA--
    GO:0007199G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger IBA--


    FZD6 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
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FZD6

    1 HMDB Compound for FZD6    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about FZD6 

    (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 FZD6 gene (3 alternative transcripts): 
    NM_001164615.1  NM_001164616.1  NM_003506.3  

    Unigene Cluster for FZD6:

    Frizzled family receptor 6
    Hs.591863  [show with all ESTs]
    Unigene Representative Sequence: BX538222
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522566(uc003ylh.3) ENST00000522484 ENST00000523933 ENST00000523739
    ENST00000519011 ENST00000521195 ENST00000358755(uc011lhn.2 uc003ylj.3 uc011lho.2 uc011lhp.2)
    ENST00000540287

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    Inhib. RNA
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    Additional cDNA sequence: 

    AB012911.1 AB209734.1 AF072873.1 AK296824.1 AK299341.1 AK304092.1 AK313789.1 AK316544.1 
    BC036106.1 BC060836.1 BX538222.1 BX640609.1 

    12 DOTS entries:

    DT.95265004  DT.100687502  DT.313636  DT.101982634  DT.92043230  DT.99972645  DT.121479276  DT.121479296 
    DT.121479236  DT.121479264  DT.313638  DT.95265002 

    24/119 AceView cDNA sequences (see all 119):

    BU627239 CR623773 N57630 BX109942 AW148330 CA394506 AU131395 NM_003506 
    AU131025 BP351890 CD644741 AI220799 CA311380 CB850614 CA313845 BX477422 
    AA319328 BQ026138 BM995943 BX329173 BM770542 AU130184 AW511572 BG506706 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FZD6    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
    SP1:                                                                        
    SP2:                                      -                                 
    SP3:        -     -                                                         


    ECgene alternative splicing isoforms for FZD6

    (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

    FZD6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCACCCATT

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

    About this image

    FZD6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    SomiteCervical DermomyotomeCervical Dermomyotome CellsAdipose, Skeletal Muscle
    SomiteCervical Dorsomedial Dermomyotome LipMuscle Progenitor CellsSkeletal Muscle
    SomiteLumbar DermomyotomeLumbar Dermomyotome CellsAdipose, Skeletal Muscle
    SomiteLumbar Dorsomedial Dermomyotome LipMuscle Progenitor CellsSkeletal Muscle
    SomiteSacral DermomyotomeSacral Dermomyotome CellsAdipose, Skeletal Muscle
    SomiteSacral Dorsomedial Dermomyotome LipMuscle Progenitor CellsSkeletal Muscle
    SomiteThoracic DermomyotomeThoracic Dermomyotome CellsAdipose, Skeletal Muscle
    SomiteThoracic Dorsomedial Dermomyotome LipMuscle Progenitor CellsSkeletal Muscle
    KidneyUreteric BudKidney
    LiverLiver BudLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    Endothelial cells and neural cells (Derivation of blood-...)

    See FZD6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FZD6

    SOURCE GeneReport for Unigene cluster: Hs.591863

    UniProtKB/Swiss-Prot: FZD6_HUMAN, O60353
    Tissue specificity: Detected in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, thymus,
    prostate, testis, ovary, small intestine and colon. In the fetus, expressed in brain, lung, liver and kidney

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              G Protein Coupled Receptors 384HT 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 chordates.

    Orthologs for FZD6 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FZD61 frizzled family receptor 6 74(n)
    76.41(a)
      378788  XM_418372.3  XP_418372.3 
    lizard
    (Anolis carolinensis)
    Reptilia FZD66
    --
    71(a)
    1 ↔ 1
    4(13723379-13739450)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL857901.22   -- 73.01(n)    AL857901.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc658792 hypothetical protein MGC65879 73.56(n)   393533  BC056573.1 


    ENSEMBL Gene Tree for FZD6 (if available)
    TreeFam Gene Tree for FZD6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FZD6 gene
    FZD102  FZD32  FZD82  FZD12  FZD52  FZD22  FZD92  SFRP42  
    SMO2  FZD42  SFRP12  FRZB2  FZD72  SFRP52  SFRP22  
    11 SIMAP similar genes for FZD6 using alignment to 6 protein entries:     FZD6_HUMAN (see all proteins):
    GPCR    FZD3    FZD1    FZD2    FZD7    FZD10
    FZD9    SMO    FZD4    FZD5    FRZB

    FZD6 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

    10/611 NCBI SNPs in FZD6 are shown (see all 611    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs758925441,2
    C,F,--99510253(+) AAATCA/GCATGA 3 -- int1 us2k12Minor allele frequency- G:0.14NA EA 240
    rs750173831,2
    F,--99510467(+) ACCACG/ATAGAC 3 -- us2k11Minor allele frequency- A:0.06WA 118
    rs1996578061,2
    C--99510869(+) CCTGAA/CAAAAA 3 -- us2k10--------
    rs785411971,2
    F,--99511175(+) AGAGAA/CATAGT 3 -- us2k11Minor allele frequency- C:0.04NA 120
    rs769718051,2
    C,F,--99511284(+) TATTTC/ATTCAT 3 -- us2k11Minor allele frequency- A:0.06WA 118
    rs64688681,2
    C,F,A,H,--99511357(+) AATTCG/ATCTTT 3 -- us2k113Minor allele frequency- A:0.02NS EA NA 1760
    rs771698581,2
    C,F,--99511473(+) AGCCTC/TCATCT 3 -- us2k11Minor allele frequency- T:0.04WA 118
    rs784751121,2
    --99511663(+) CTATAT/CTGTGA 3 -- us2k12Minor allele frequency- C:0.10CSA WA 120
    rs37580961,2
    C,H--99511741(-) AAATCA/CACCTA 3 -- us2k14Minor allele frequency- C:0.00NS EA 418
    rs749492391,2
    F,--99512578(+) TTGGGG/ACGCGG 3 -- int11Minor allele frequency- A:0.14WA 118

    HapMap Linkage Disequilibrium report for FZD6 (104310661 - 104345094 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FZD6: --
    Human Gene Mutation Database (HGMD): FZD6

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FZD6 for disorders           About GeneDecksing

    OMIM gene information: 603409    OMIM disorders: --

    UniProtKB/Swiss-Prot: FZD6_HUMAN, O60353
  • Defects in FZD6 are the cause of nail disorder non-syndromic congenital type 10 (NDNC10) [MIM:614157]. NDNC10
  • is a nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all
    nails, with claw-shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair,
    teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal
    psychomotor development
  • Note=Rare non-synonymous variants in FZD6 may contribute to neural tube defects, congenital malformations of
  • the central nervous system and adjacent structures related to defective neural tube closure during the first trimester
    of pregnancy

    18 diseases for FZD6:    About MalaCards
    neural tube defect    exudative vitreoretinopathy    nail dysplasia    vitreoretinopathy
    basal cell carcinoma    hyperopia    pituitary adenoma    strabismus
    acute leukemia    adenoma    hematopoiesis    breast cancer
    leukemia    carcinoma    prostatitis    neuronitis
    colorectal cancer    glioblastoma

    1 disease from the University of Copenhagen DISEASES database for FZD6:
    Hyperopia
    Human Genome Epidemiology (HuGE) Navigator: FZD6 (4 documents)
    Tumor Gene Database (TGDB): FZD6

    Export disorders for FZD6 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 FZD6 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with FZD6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of human frizzled-6. (PubMed id 9480858)1, 2, 3, 9 Tokuhara M.... Katoh M. (1998)
    2. FZD6 is a novel gene for human neural tube defects. (PubMed id 22045688)1, 2 De Marco P....Capra V. (2011)
    3. Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. (PubMed id 21665003)1, 2 Frojmark A.S.... Dahl N. (2011)
    4. The human Frizzled 6 (HFz6) acts as a negative regulator of the canonical Wnt. beta-catenin signaling cascade. (PubMed id 14747478)1, 3 Golan T....Gazit A. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. FZD6 encoding the Wnt receptor frizzled 6 is mutated i n autosomal-recessive nail dysplasia. (PubMed id 22211385)1 Naz G....Betz R.C. (2012)
    7. ZNRF3 promotes Wnt receptor turnover in an R-spondin-sensitive manner. (PubMed id 22575959)2 Hao H.X....Cong F. (2012)
    8. Analysis of target genes regulated by chronic electroc onvulsive therapy reveals role for Fzd6 in depression. (PubMed id 21937024)1 Voleti B....Duman R.S. (2012)
    9. [Of genes and nails]. (PubMed id 22078044)1 Dereure O. (2011)
    10. Frizzled receptor 6 marks rare, highly tumourigenic st em-like cells in mouse and human neuroblastomas. (PubMed id 22249030)1 Cantilena S....Sala A. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8323 HGNC: 4044 AceView: FZD6 Ensembl:ENSG00000164930 euGenes: HUgn8323
    ECgene: FZD6 Kegg: 8323 H-InvDB: FZD6

    (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 FZD6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FZD6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FZD6 gene:
    Search GeneIP for patents involving FZD6

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



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