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

FBXO43 Gene

protein-coding   GIFtS: 50
GCID: GC08M101145

F-box protein 43
  Search for FBXO43
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FBXO43    

Aliases
for FBXO43 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
F-Box Protein 431 2     FBX432 5
EMI22 3 5     Fbx431
Endogenous Meiotic Inhibitor 22 3     Early Mitotic Inhibitor 22
ERP12 5     F-Box Only Protein 432

External Ids:    HGNC: 285211   Entrez Gene: 2861512   Ensembl: ENSG000001565097   OMIM: 6091105   UniProtKB: Q4G1633   
ORGUL members:         
NONCODE:n410053    

Export aliases for FBXO43 gene to outside databases

Previous GC identifers: GC08M101103 GC08M101214 GC08M096348


Summaries
for FBXO43 gene

(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 FBXO43:
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)

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)




Genomic Views
for FBXO43 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 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 FBXO43 gene promoter:
         RP58   GATA-3   Nkx2-2   CUTL1   GATA-1   GATA-2   AREB6   SRY   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FBXO43 promoter sequence
   Search SABiosciences Chromatin IP Primers for FBXO43

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for FBXO43 gene

(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: 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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q4G163

    • FBXO43 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001025031.2  
    ENSEMBL proteins: 
     ENSP00000403293   ENSP00000429759  

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    Uscn Proteins for FBXO43

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    FBXO43 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for FBXO43 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FBXO43 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002867 Znf_C6HC

    Graphical View of Domain Structure for InterPro Entry Q4G163

    ProtoNet protein and cluster: Q4G163

    1 Blocks protein family: IPB002867 Zn-finger

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


    Function
    for FBXO43 gene

    (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: 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)

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--


    FBXO43 for ontologies           About GeneDecksing



    Pathways & Interactions
    for FBXO43 gene

    (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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Oocyte meiosis
    		Oocyte meiosis1.00

    Pathway sources
    See GeneCards unified pathways
    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FBXO43

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/16 Interacting proteins for FBXO43 (Q4G1633 ENSP000004032934) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007126meiosis 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



    Drugs & Compounds
    for FBXO43 gene

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FBXO43

    1 HMDB Compound for FBXO43    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about FBXO43 / FBX43 

    Transcripts
    for FBXO43 gene

    (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 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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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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:

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

    Expression
    for FBXO43 gene

    (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

    FBXO43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAAATCTTCC

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

    FBXO43 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSecondary SpermatocyteGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FBXO43 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBXO43

    SOURCE GeneReport for Unigene cluster: Hs.339577
        SABiosciences Expression via Pathway-Focused PCR Array including FBXO43: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for FBXO43 gene

    (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 FBXO43 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Fbxo431 , 5 F-box protein 431, 5 77.07(n)1
    70.08(a)1    		   15 (14.46 cM)5
    788031  NM_001081253.11  NP_001074722.11 
     361500605 
    chicken
    (Gallus gallus)    		 Aves FBXO431 F-box protein 43 60.31(n)
    51.16(a)    		   420245  XM_418357.3  XP_418357.1 
    lizard
    (Anolis carolinensis)    		 Reptilia FBXO436
    		 --
    		 43(a)
    		 1 ↔ 1
    		 GL343394.1(318667-326283)
    African clawed frog
    (Xenopus laevis)    		 Amphibia LOC3978792 XLCL2 76.93(n)    AF450296.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii fbxo431 F-box protein 43 46.32(n)
    42.6(a)    		   393403  NM_200431.1  NP_956725.1 


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

    Paralogs
    for FBXO43 gene

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

    FBXO43 for paralogs           About GeneDecksing



    Genomic Variants
    for FBXO43 gene

    (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

    10/262 NCBI SNPs in FBXO43 are shown (see all 262)     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,--101145199(+) CCATGC/TCTCAA 2 -- ds50013Minor allele frequency- T:0.06WA EA 240
    rs1417268681,2
    		C,--101145211(+) CAAAC-/AAAAAA 2 -- ds50010--------
    rs2004944281,2
    		--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--------
    rs1433295371,2
    		C,--101145526(+) CCTAG-/TTAT  
                TAATA     		2 -- ds50010--------
    rs106015211,2
    		C--101145527(+) CTAGT-/TATT  
                AATAT     		2 -- ds50011Minor allele frequency- TATT:0.00NA 2

    HapMap Linkage Disequilibrium report for FBXO43 (101145588 - 101158099 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FBXO43: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FBXO43
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    Disorders / Diseases
    for FBXO43 gene

    (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
    FBXO43 for disorders           About MalaCards

    FBXO43 for disorders           About GeneDecksing

    OMIM gene information: 609110    OMIM disorders: --


    Export disorders for FBXO43 gene to outside databases

    Publications
    for FBXO43 gene

    (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 FBXO43 gene integrated from 9 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. (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. (2005)
    3. Systematic analysis and nomenclature of mammalian F-box proteins. (PubMed id 15520277)1, 2 Jin J....Harper J.W. (2004)
    4. Cdc2 and Mos regulate Emi2 stability to promote the meiosis I-meiosis II transition. (PubMed id 18550795)1 Tang W....Kornbluth S. (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. (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. (2006)
    7. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (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. (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. (2002)

    External Searches for FBXO43 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing FBXO43 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 286151 HGNC: 28521 AceView: FBXO43 Ensembl:ENSG00000156509 euGenes: HUgn286151
    ECgene: FBXO43 Kegg: 286151 H-InvDB: FBXO43

    Other Databases showing FBXO43 gene

    (According to HUGE)
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    Specialized Databases showing FBXO43 gene

    (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 FBXO43 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FBXO43 gene

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

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