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FBXW4 Gene

protein-coding   GIFtS: 51
GCID: GC10M103370

F-Box And WD Repeat Domain Containing 4

(Previous names: split hand/foot malformation (ectrodactyly) type 3, F-box...)
(Previous symbol: SHFM3)
  See 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
F-Box And WD Repeat Domain Containing 41 2     Split Hand/Foot Malformation (Ectrodactyly) Type 31
SHFM31 2 3     SHSF32
FBW42 3 5     dactylin2
F-Box And WD-40 Domain Protein 41 2     F-Box/WD Repeat Protein 42
F-Box And WD-40 Domain-Containing Protein 42 3     F-Box/WD Repeat-Containing Protein 42
DAC2 5     Dactylin3
FBWD42 5     

External Ids:    HGNC: 108471   Entrez Gene: 64682   Ensembl: ENSG000001078297   OMIM: 6080715   UniProtKB: P577753   

Export aliases for FBXW4 gene to outside databases

Previous GC identifer: GC10M103362


(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 FBXW4 Gene:
This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40
protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought
to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse
gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and
syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically
heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to
the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene
and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the
introns of the BCR gene on chromosome 22. (provided by RefSeq, Jul 2008)

GeneCards Summary for FBXW4 Gene:
FBXW4 (F-box and WD repeat domain containing 4) is a protein-coding gene. Diseases associated with FBXW4 include split-hand/foot malformation 3, and split hand.

UniProtKB/Swiss-Prot: FBXW4_HUMAN, P57775
Function: Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and
degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate
in Wnt signaling

Gene Wiki entry for FBXW4 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:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBXW4 gene promoter:
         FAC1   Cart-1   Lmo2   CUTL1   Nkx2-5   Pax-4a   HNF-3beta   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXW4 promoter sequence
   Search Chromatin IP Primers for FBXW4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBXW4


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

Entrez Gene cytogenetic band: 10q24   Ensembl cytogenetic band:  10q24.32   HGNC cytogenetic band: 10q24

FBXW4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXW4 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M103370:  view genomic region     (about GC identifiers)

Start:
103,370,421 bp from pter      End:
103,455,052 bp from pter
Size:
84,632 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FBXW4_HUMAN, P57775 (See protein sequence)
Recommended Name: F-box/WD repeat-containing protein 4  
Size: 412 amino acids; 46337 Da
Subunit: Part of a SCF (SKP1-cullin-F-box) protein ligase complex (By similarity)
Secondary accessions: Q5SVS1 Q96IM6

Explore the universe of human proteins at neXtProt for FBXW4: NX_P57775

Explore proteomics data for FBXW4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FBXW4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071322.1  
    ENSEMBL proteins: 
     ENSP00000359149  
    Reactome Protein details: P57775

    FBXW4 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for FBXW4
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    Novus Biologicals FBXW4 Protein
    Novus Biologicals FBXW4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FBXW4

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    FBXW4 Assay Products:

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    Cloud-Clone Corp. ELISAs for FBXW4
    Cloud-Clone Corp. CLIAs for FBXW4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FBXW: F-boxes / WD-40 domains
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR001810 F-box_dom
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry P57775

    ProtoNet protein and cluster: P57775

    UniProtKB/Swiss-Prot: FBXW4_HUMAN, P57775
    Similarity: Contains 1 F-box domain
    Similarity: Contains 4 WD repeats


    FBXW4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FBXW4_HUMAN, P57775
    Function: Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and
    degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate
    in Wnt signaling

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    FBXW4 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Fbxw4):
     embryogenesis  limbs/digits/tail  mortality/aging  no phenotypic analysis  skeleton 

    FBXW4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FBXW4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FBXW4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FBXW4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FBXW4

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat FBXW4 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate FBXW4:
    hsa-miR-607 hsa-miR-125a-5p hsa-miR-125b hsa-miR-670 hsa-miR-149 hsa-miR-330-3p hsa-miR-24 hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidFBXW4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FBXW4
    Predesigned siRNA for gene silencing in human, mouse, rat FBXW4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FBXW4

    Clone
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    OriGene clones in human, mouse for FBXW4 (see all 6)
    OriGene ORF clones in mouse, rat for FBXW4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FBXW4 (NM_022039)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FBXW4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBXW4

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for FBXW4
    Browse ESI BIO Cell Lines and PureStem Progenitors for FBXW4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXW4


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    peroxisome2
    golgi apparatus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex NAS10945468

    FBXW4 for ontologies           About GeneDecksing


    (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 FBXW4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Protein folding
    Chaperonin-mediated protein folding0.91
    Association of TriC/CCT with target proteins during biosynthesis0.58
    Protein folding0.91
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for FBXW4
        Association of TriC/CCT with target proteins during biosynthesis



    FBXW4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FBXW4: 
              WNT Signaling Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for FBXW4

    Selected Interacting proteins for FBXW4 (P577752, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUL1Q136162, 3MINT-49911 I2D: score=2 
    SLX4IPQ5VYV73I2D: score=2 
    CDC37Q165433I2D: score=1 
    ECSITQ9BQ953I2D: score=1 
    MAST1Q9Y2H93I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002053positive regulation of mesenchymal cell proliferation IEA--
    GO:0006511ubiquitin-dependent protein catabolic process NAS10945468
    GO:0016055Wnt signaling pathway IEA--
    GO:0030326embryonic limb morphogenesis NAS10405324
    GO:0042733embryonic digit morphogenesis IEA--

    FBXW4 for ontologies           About GeneDecksing



    (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 FBXW4



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FBXW4 gene: 
    NM_022039.3  

    Unigene Cluster for FBXW4:

    F-box and WD repeat domain containing 4
    Hs.500822  [show with all ESTs]
    Unigene Representative Sequence: BX538261
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000470093 ENST00000331272 ENST00000482428 ENST00000457105 ENST00000489578

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FBXW4 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate FBXW4:
    hsa-miR-607 hsa-miR-125a-5p hsa-miR-125b hsa-miR-670 hsa-miR-149 hsa-miR-330-3p hsa-miR-24 hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidFBXW4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FBXW4
    Predesigned siRNA for gene silencing in human, mouse, rat FBXW4
    Clone
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    OriGene clones in human, mouse for FBXW4 (see all 6)
    OriGene ORF clones in mouse, rat for FBXW4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FBXW4 (NM_022039)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FBXW4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBXW4
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FBXW4
    OriGene qSTAR qPCR primer pairs in human, mouse for FBXW4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FBXW4
      QuantiTect SYBR Green Assays in human, mouse, rat FBXW4
      QuantiFast Probe-based Assays in human, mouse, rat FBXW4

    Additional mRNA sequence: 

    AF281859.1 AK123173.1 AK129650.1 AK314735.1 BC007380.2 BC063415.1 BC128209.1 BX538261.1 

    15 DOTS entries:

    DT.426260  DT.121300788  DT.101961473  DT.100763640  DT.40301435  DT.95184998  DT.92436519  DT.121300755 
    DT.121300766  DT.121300787  DT.91735339  DT.97789840  DT.100816346  DT.95285297  DT.95351142 

    Selected AceView cDNA sequences (see all 254):

    BM825146 AW169846 BU197057 AA321941 BQ880726 BM739426 AL043649 BQ060786 
    AI479142 BU195407 AA335511 AI580103 AI682271 BQ268016 AW072753 NM_022039 
    BU728742 CB144644 CD671084 AW401934 AI127670 CR595186 AI357438 BQ018203 

    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)
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    FBXW4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTACAATTTT
    FBXW4 Expression
    About this image

    FBXW4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBXW4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.500822

    UniProtKB/Swiss-Prot: FBXW4_HUMAN, P57775
    Tissue specificity: Expressed in brain, kidney, lung and liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FBXW4: 
              WNT Signaling Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for FBXW4
    OriGene qSTAR qPCR primer pairs in human, mouse for FBXW4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FBXW4
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    QuantiFast Probe-based Assays in human, mouse, rat FBXW4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXW4

    (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 chordates.

    Orthologs for FBXW4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbxw41 , 5 F-box and WD-40 domain protein 41, 5 90.05(n)1
    93.62(a)1
      19 (38.75 cM)5
    308381  NM_013907.21  NP_038935.11 
     455782545 
    chicken
    (Gallus gallus)
    Aves FBXW41 F-box and WD repeat domain containing 4 74.09(n)
    73.32(a)
      770459  XM_001233792.2  XP_001233793.1 
    lizard
    (Anolis carolinensis)
    Reptilia FBXW46
    F-box and WD repeat domain containing 4
    66(a)
    1 ↔ 1
    GL343239.1(1121521-1191598)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fbxw41 F-box and WD repeat domain containing 4 65.36(n)
    66.84(a)
      100495127  XM_002936770.2  XP_002936816.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dac2 dactylaplasia 72.25(n)   58035  AB022162.1 


    ENSEMBL Gene Tree for FBXW4 (if available)
    TreeFam Gene Tree for FBXW4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FBXW4 gene
    2 SIMAP similar genes for FBXW4 using alignment to 4 protein entries:     FBXW4_HUMAN (see all proteins):
    BCR    FLJ00077

    FBXW4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FBXW4
    PGOHUM00000246522


    (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 FBXW4 (see all 1247)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs748068901,2
    C--97005098(+) GGGCT-/CCTTTT 1 -- int10--------
    rs754546391,2
    C--97008946(+) GGCAG-/AAAAAA 1 -- int10--------
    rs802292031,2
    C--97024957(+) AACCA-/GGACGC 1 -- int10--------
    rs1429729491,2
    C--97031571(+) AAAAA-/AAAAC 
            
    AAAAC
    1 -- int10--------
    rs3742923751,2
    C--97031573(+) AAAAA-/AAAAC 
            
    AAACA
    1 -- int10--------
    rs770977491,2
    C--97031814(+) ACACA-/CATGTG 1 -- int10--------
    rs1995195061,2
    C--97071335(+) AAAAA-/AT/TA 
            
    ATAAT
    1 -- int10--------
    rs1998323571,2
    --97071336(+) AAAAA-/ATAATAA 1 -- int10--------
    rs350986651,2
    C--97079068(+) AAAAAA/-TGAAA 1 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs1125278121,2
    C,F--103379347(+) GGAGGT/CGGAGT 1 -- int11Minor allele frequency- C:0.00CSA 1

    HapMap Linkage Disequilibrium report for FBXW4 (103370421 - 103455052 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for FBXW4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663159CNV Deletion23128226
    esv2740184CNV Deletion23290073
    esv2672546CNV Deletion23128226
    esv2750847CNV Gain17911159
    nsv895967CNV Gain21882294

    Human Gene Mutation Database (HGMD): FBXW4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FBXW4
    DNA2.0 Custom Variant and Variant Library Synthesis for FBXW4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608071    OMIM disorders: --

    UniProtKB/Swiss-Prot: FBXW4_HUMAN, P57775
  • Split-hand/foot malformation 3 (SHFM3) [MIM:246560]: A limb malformation involving the central rays of
    the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of
    the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal
    and craniofacial findings, and orofacial clefting. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 10 diseases for FBXW4:    About MalaCards
    split-hand/foot malformation 3    split hand    split foot    split hand foot malformation
    syndactyly    split-hand/foot malformation 6    multiple myeloma    myeloma
    neuroblastoma    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for FBXW4:
    Syndactyly

    FBXW4 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for FBXW4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shfm3 98.8 4 10405324 (2), 18392654 (1), 18067070 (1)
    malformation foot 96.8 1 10405324 (1)


    Export disorders for FBXW4 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 FBXW4 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with FBXW4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24. (PubMed id 10405324)1, 2, 9 Ianakiev P.... Tsipouras P. (Biochem. Biophys. Res. Commun. 1999)
    2. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. (PubMed id 12913067)1, 2, 9 de Mollerat X.J.... Schwartz C.E. (Hum. Mol. Genet. 2003)
    3. cDNA cloning and expression analysis of new members of the mammalian F-box protein family. (PubMed id 10945468)1, 2, 9 Ilyin G.P.... Guguen-Guillouzo C. (Genomics 2000)
    4. 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. (Genome Res. 2004)
    5. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    6. A split hand-split foot (SHFM3) gene is located at 10q24--&gt;25. (PubMed id 8723077)1, 3 Gurrieri F....Tsipouras P. (Am. J. Med. Genet. 1996)
    7. Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. (PubMed id 7912888)1, 3 Palmer S.E....Evans J.P. (Am. J. Hum. Genet. 1994)
    8. The novel ubiquitin ligase complex, SCF(Fbxw4), interacts with the COP9 signalosome in an F-box dependent manner, is mutated, lost and under-expressed in human cancers. (PubMed id 23658844)1 Lockwood W.W....Beverly L.J. (PLoS ONE 2013)
    9. Fbxw7I+- and GSK3-mediated degradation of p100 is a pro-survival mechanism in multiple myeloma. (PubMed id 22388891)1 Busino L....Pagano M. (Nat. Cell Biol. 2012)
    10. Interactome mapping suggests new mechanistic details underlying Alzheimer's disease. (PubMed id 21163940)1 Soler-LA^pez M....Aloy P. (Genome Res. 2011)

    (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: 6468 HGNC: 10847 AceView: SHFM3 Ensembl:ENSG00000107829 euGenes: HUgn6468
    ECgene: FBXW4 H-InvDB: FBXW4

    (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 FBXW4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FBXW4[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 FBXW4 gene:
    Search GeneIP for patents involving FBXW4

    GeneCards and IP:
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