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FBXO43 Gene

protein-coding   GIFtS: 49
GCID: GC08M101145

F-Box Protein 43

  Search for FBXO43
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 Protein 431 2     FBX432 5
EMI22 3 5     Early Mitotic Inhibitor 22
Endogenous Meiotic Inhibitor 22 3     F-Box Only Protein 432
ERP12 5     

External Ids:    HGNC: 285211   Entrez Gene: 2861512   Ensembl: ENSG000001565097   OMIM: 6091105   UniProtKB: Q4G1633   

Export aliases for FBXO43 gene to outside databases

Previous GC identifers: GC08M101103 GC08M101214 GC08M096348


(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 FBXO43 Gene:
Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box
motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as
protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with
ubiquitination targets through other protein interaction domains (Jin et al., 2004 (PubMed 15520277)).(supplied
by OMIM, Mar 2008)

GeneCards Summary for FBXO43 Gene:
FBXO43 (F-box protein 43) is a protein-coding gene. An important paralog of this gene is FBXO5.

UniProtKB/Swiss-Prot: FBX43_HUMAN, Q4G163
Function: Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until
fertilization. Probably acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase.
Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation
(Probable)




(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_000008.11  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBXO43 gene promoter:
         RP58   GATA-3   Nkx2-2   CUTL1   GATA-1   GATA-2   AREB6   SRY   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXO43 promoter sequence
   Search Chromatin IP Primers for FBXO43

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBXO43


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

Entrez Gene cytogenetic band: 8q22.2   Ensembl cytogenetic band:  8q22.2   HGNC cytogenetic band: 8q22.3

FBXO43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXO43 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M101145:  view genomic region     (about GC identifiers)

Start:
101,145,588 bp from pter      End:
101,158,099 bp from pter
Size:
12,512 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FBX43_HUMAN, Q4G163 (See protein sequence)
Recommended Name: F-box only protein 43  
Size: 708 amino acids; 78402 Da
Subunit: Part of a SCF (SKP1-cullin-F-box) protein ligase complex. May interact with CDC20 (By similarity)

Explore the universe of human proteins at neXtProt for FBXO43: NX_Q4G163

Explore proteomics data for FBXO43 at MOPED

Post-translational modifications: 

  • Phosphorylated on Ser-76, Thr-234 and Ser-334 in response to calcium, which is a prerequisite for ubiquitination
    and proteasomal degradation (Probable)1
  • Ubiquitinated in response to calcium, which promotes proteasomal degradation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FBXO43 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001025031.2  
    ENSEMBL proteins: 
     ENSP00000403293   ENSP00000429759  

    FBXO43 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for FBXO43


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FBXO: F-boxes / "other"

    1 InterPro protein domain:
     IPR002867 Znf_C6HC

    Graphical View of Domain Structure for InterPro Entry Q4G163

    ProtoNet protein and cluster: Q4G163

    1 Blocks protein domain: IPB002867 Zn-finger

    UniProtKB/Swiss-Prot: FBX43_HUMAN, Q4G163
    Similarity: Contains 1 F-box domain
    Similarity: Contains 1 IBR-type zinc finger


    FBXO43 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: FBX43_HUMAN, Q4G163
    Function: Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until
    fertilization. Probably acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase.
    Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation
    (Probable)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    FBXO43 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FBXO43
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    FBXO43 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 FBXO43 About    
    See pathways by source

    SuperPathContained pathways About
    1Oocyte meiosis
    Oocyte meiosis0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for FBXO43):
        Oocyte meiosis

    UniProtKB/Swiss-Prot: FBX43_HUMAN, Q4G163
    Pathway: Protein modification; protein ubiquitination


    FBXO43 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including FBXO43: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FBXO43

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for FBXO43 (Q4G1633 ENSP000004032934) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC20Q128343, ENSP000003084504I2D: score=1 STRING: ENSP00000308450
    BTRCENSP000003592064STRING: ENSP00000359206
    CAMK2AENSP000003814124STRING: ENSP00000381412
    CAMK2BENSP000002586824STRING: ENSP00000258682
    CAMK2DENSP000003397404STRING: ENSP00000339740
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007126meiotic nuclear division IEA--
    GO:0016567protein ubiquitination IEA--
    GO:0040020regulation of meiosis ----
    GO:0042177negative regulation of protein catabolic process IEA--
    GO:0045835negative regulation of meiosis IEA--

    FBXO43 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 FBXO43 (FBX43)

    1 HMDB Compound for FBXO43    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FBXO43 gene (2 alternative transcripts): 
    NM_001077528.1  NM_001029860.3  

    Unigene Cluster for FBXO43:

    F-box protein 43
    Hs.339577  [show with all ESTs]
    Unigene Representative Sequence: NR_036491
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000428847 ENST00000517806(uc003yje.3 uc003yjd.3) ENST00000520987(uc010mbp.2)

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      QuantiFast Probe-based Assays in human, mouse, rat FBXO43

    Additional mRNA sequence: 

    AK310518.1 BC028709.1 BC090892.1 NR_036491.1 

    5 DOTS entries:

    DT.206607  DT.100838443  DT.91719569  DT.92032064  DT.95150717 

    24 AceView cDNA sequences:

    AA620638 AA827877 AI198884 AI479311 BX403273 AW169880 BF475599 BF125801 
    BC028709 AA620659 BG722745 BX370294 CD557139 CB147036 AW630690 AI806352 
    AL558291 BG391951 AW628152 AV695315 AI381478 AA927996 AL580149 BX352278 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for FBXO43    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b
    SP1:                                                
    SP2:              -                                 


    ECgene alternative splicing isoforms for FBXO43

    (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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    FBXO43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAATCTTCC
    FBXO43 Expression
    About this image


    FBXO43 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Testis (Reproductive System)
             Secondary Spermatocyte Seminiferous Tubules
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Gonad
             Secondary Spermatocyte Seminiferous Tubules
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
    FBXO43 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBXO43 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.339577
        Pathway & Disease-focused RT2 Profiler PCR Array including FBXO43: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:
     

     
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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 chordates.

    Orthologs for FBXO43 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbxo431 , 5 F-box protein 431, 5 76.76(n)1
    69.4(a)1
      15 (14.46 cM)5
    788031  NM_001081253.11  NP_001074722.11 
     361500605 
    chicken
    (Gallus gallus)
    Aves FBXO431 F-box protein 43 61.05(n)
    51.79(a)
      420245  XM_004939975.1  XP_004940032.1 
    lizard
    (Anolis carolinensis)
    Reptilia FBXO436
    F-box protein 43
    43(a)
    1 ↔ 1
    GL343394.1(309852-328009)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3978792 XLCL2 76.93(n)    AF450296.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fbxo431 F-box protein 43 46.57(n)
    42.77(a)
      393403  NM_200431.1  NP_956725.1 


    ENSEMBL Gene Tree for FBXO43 (if available)
    TreeFam Gene Tree for FBXO43 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FBXO43 gene
    FBXO52  

    FBXO43 for paralogs           About GeneDecksing



    (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 FBXO43 (see all 333)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1930350891,2
    --101145093(+) AGGCTA/GAGGCA 2 -- ds50010--------
    rs1833886831,2
    --101145099(+) AGGCAA/GGAGAA 2 -- ds50010--------
    rs732769731,2
    C,F--101145199(+) CCATGC/TCTCAA 2 -- ds50013Minor allele frequency- T:0.06WA EA 240
    rs1417268681,2
    C--101145214(+) AAAAA-/ACTTAT 2 -- ds50010--------
    rs2004944281,2
    C--101145217(+) ACAAA-/CAAAAA 2 -- ds50010--------
    rs1880849761,2
    --101145218(+) ACAAAA/CAAAAA 2 -- ds50010--------
    rs1924925081,2
    --101145397(+) GAAATA/CTGTGC 2 -- ds50010--------
    rs105635611,2
    C--101145526(+) CCTAG-/TTAT  
            
    TAATA
    2 -- ds50010--------
    rs106015211,2
    C--101145527(+) CTAGT-/TATT  
            
    AATAT
    2 -- ds50011Minor allele frequency- TATT:0.00NA 2
    rs1124717741,2
    F--101145570(+) AATTAC/TAGAAT 2 -- ds50011Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for FBXO43 (101145588 - 101158099 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FBXO43: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FBXO43
    DNA2.0 Custom Variant and Variant Library Synthesis for FBXO43

    (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.)
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    OMIM gene information: 609110    OMIM disorders: --


    FBXO43 for disorders           About GeneDecksing


    Export disorders for FBXO43 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 FBXO43 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FBXO43)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CaMKII and polo-like kinase 1 sequentially phosphorylate the cytostatic factor Emi2/XErp1 to trigger its destruction and meiotic exit. (PubMed id 16407128)1, 2 Hansen D.V.... Jackson P.K. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    2. A role for the anaphase-promoting complex inhibitor Emi2/XErp1, a homolog of early mitotic inhibitor 1, in cytostatic factor arrest of Xenopus eggs. (PubMed id 15753281)1, 2 Tung J.J.... Jackson P.K. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    3. Systematic analysis and nomenclature of mammalian F-box proteins. (PubMed id 15520277)1, 2 Jin J....Harper J.W. (Genes Dev. 2004)
    4. Cdc2 and Mos regulate Emi2 stability to promote the meiosis I-meiosis II transition. (PubMed id 18550795)1 Tang W....Kornbluth S. (Mol. Biol. Cell 2008)
    5. Mammalian Emi2 mediates cytostatic arrest and transduces the signal for meiotic exit via Cdc20. (PubMed id 16456547)1 Shoji S....Perry A.C. (EMBO J. 2006)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    7. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (Nature 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
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      (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: 286151 HGNC: 28521 AceView: FBXO43 Ensembl:ENSG00000156509 euGenes: HUgn286151
    ECgene: FBXO43 Kegg: 286151 H-InvDB: FBXO43

    (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 FBXO43 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FBXO43 gene:
    Search GeneIP for patents involving FBXO43

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



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