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

FBXL7 Gene

protein-coding   GIFtS: 52
GCID: GC05P015553

F-box and leucine-rich repeat protein 7

 Explore 1 disease affiliated with
FBXL7 via our new
 Human Malady Compendium 
Biological research products
for FBXL7
    

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

Aliases
F-Box And Leucine-Rich Repeat Protein 71 2 3     F-Box Protein FBL6/FBL72 3
FBL71 2 3 5     F-Box Protein Fbl72
FBL61 2 3     F-Box/LRR-Repeat Protein 72
KIAA08401 3     

External Ids:    HGNC: 136041   Entrez Gene: 231942   Ensembl: ENSG000001835807   OMIM: 6056565   UniProtKB: Q9UJT93   

Export aliases for FBXL7 gene to outside databases

Previous GC identifers: GC05P015490 GC05P015777


(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 FBXL7:
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif,
the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs
(SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3
classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different
protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls
class and, in addition to an F-box, contains several tandem leucine-rich repeats. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FBXL7_HUMAN, Q9UJT9
Function: Substrate recognition component of a (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which
mediates the ubiquitination and subsequent proteasomal degradation of AURKA during mitosis, causing mitotic arrest (By
similarity)

Gene Wiki entry for FBXL7


(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_000005.9  NC_018916.1  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBXL7 gene promoter:
         AML1a   POU2F1   POU2F1a   Hand1   NF-Y   CBF(2)   E47   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXL7 promoter sequence
   Search SABiosciences Chromatin IP Primers for FBXL7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXL7


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

Entrez Gene cytogenetic band: 5p15.1   Ensembl cytogenetic band:  5p15.1   HGNC cytogenetic band: 5p15.1

FBXL7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXL7 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P015553:  view genomic region     (about GC identifiers)

Start:
15,500,305 bp from pter      End:
15,939,900 bp from pter
Size:
439,596 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: FBXL7_HUMAN, Q9UJT9 (See protein sequence)
Recommended Name: F-box/LRR-repeat protein 7  
Size: 491 amino acids; 54575 Da
Subunit: Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXL7) composed of CUL1, SKP1, RBX1
and FBXL7. Interacts with AURKA; interaction takes place during mitosis but not in interphase (By similarity)
Subcellular location: Cytoplasm, cytoskeleton, centrosome (By similarity). Note=Localizes to the centrosome during
spindle formation (By similarity)
Sequence caution: Sequence=BAA74863.2; Type=Erroneous initiation;
Secondary accessions: B9EGF1 O94926

Explore the universe of human proteins at neXtProt for FBXL7: NX_Q9UJT9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UJT9

  • FBXL7 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036436.1  
    ENSEMBL proteins: 
     ENSP00000423630   ENSP00000425184   ENSP00000329632  

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    Uscn Proteins for FBXL7

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex NAS10531035
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome ISS--
    GO:0019005SCF ubiquitin ligase complex ISS--


    FBXL7 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

    FBXL7 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR006553 Leu-rich_rpt_Cys-con_subtyp
     IPR001810 F-box_dom_cyclin-like

    Graphical View of Domain Structure for InterPro Entry Q9UJT9

    ProtoNet protein and cluster: Q9UJT9

    UniProtKB/Swiss-Prot: FBXL7_HUMAN, Q9UJT9
    Similarity: Belongs to the FBXL7 family
    Similarity: Contains 1 F-box domain
    Similarity: Contains 11 LRR (leucine-rich) repeats


    (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: FBXL7_HUMAN, Q9UJT9
    Function: Substrate recognition component of a (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which
    mediates the ubiquitination and subsequent proteasomal degradation of AURKA during mitosis, causing mitotic arrest (By
    similarity)

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    SwitchGear 3'UTR luciferase reporter plasmidFBXL7 3' UTR sequence
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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:0004842ubiquitin-protein ligase activity NAS10531035
    GO:0005515protein binding ----


    FBXL7 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for FBXL7:
     Increased G1 DNA content  Synthetic lethal with Ras  Upregulation of NF-kappaB path 


    (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



    UniProtKB/Swiss-Prot: FBXL7_HUMAN, Q9UJT9
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FBXL7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/23 Interacting proteins for FBXL7 (Q9UJT93 ENSP000003296324) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SKP1P632083, ENSP000002314874I2D: score=2 STRING: ENSP00000231487
    BTRCENSP000003592064STRING: ENSP00000359206
    CCNFENSP000003802564STRING: ENSP00000380256
    CUL1ENSP000003268044STRING: ENSP00000326804
    FBXL15ENSP000002248624STRING: ENSP00000224862
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle ISS--
    GO:0006511ubiquitin-dependent protein catabolic process NAS10531035
    GO:0007067mitosis ISS--
    GO:0008283cell proliferation ISS--
    GO:0016567protein ubiquitination ISS--


    FBXL7 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FBXL7
    Search CenterWatch for drugs/clinical trials and news about FBXL7 

    (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 FBXL7 gene: 
    NM_012304.3  

    Unigene Cluster for FBXL7:

    F-box and leucine-rich repeat protein 7
    Hs.433057  [show with all ESTs]
    Unigene Representative Sequence: AB020647
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504595(uc003jfn.1) ENST00000510662 ENST00000329673

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    hsa-miR-576-3p hsa-miR-623 hsa-miR-137 hsa-miR-539 hsa-miR-139-5p hsa-miR-578 hsa-miR-558 hsa-miR-1252
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    Additional cDNA sequence: 

    AB020647.2 AF174593.1 AF199356.1 AK021671.1 AK309585.1 BC050571.1 BC075061.2 BC136424.1 

    2 DOTS entries:

    DT.443041  DT.439685 

    24/93 AceView cDNA sequences (see all 93):

    AF199356 BC075061 BU741721 AU118611 AA551022 BM717743 N53243 AI192791 
    AI480168 CD674601 BU627383 BU633031 NM_012304 BC050571 N55926 AB020647 
    CA430121 CD672860 BM724567 AF174593 AI803941 AK021671 AI191838 CD671576 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FBXL7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGACAAAGCT

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

    About this image

    FBXL7 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 TubulesSertoli cellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage

    See FBXL7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBXL7

    SOURCE GeneReport for Unigene cluster: Hs.433057
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    In Situ
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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 eukaryotes.

    Orthologs for FBXL7 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FBXL71 F-box and leucine-rich repeat protein 7 86.22(n)
    94.5(a)
      428492  XM_426048.3  XP_426048.3 
    lizard
    (Anolis carolinensis)
    Reptilia FBXL76
    --
    91(a)
    1 ↔ 1
    4(60344848-60353029)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1583461 zgc:158346 75.39(n)
    82.21(a)
      569430  NM_001080042.1  NP_001073511.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG42211 , 3 CG42211 49(a)3
    55(n)1
    46.44(a)1
      89A83
    419351  NM_142255.21  NP_650512.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATSKP2;26
    AT3G585306
    (see all 3)
    F-box protein
    (see all 3)
    22(a)
    22(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    1(28940147-28942623)
    3(21645547-21648368)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 3)
    F-box/LRR-repeat protein 2, putative, expressed
    (see all 3)
    22(a)
    21(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    5(20784613-20788538)
    1(38274012-38277987)


    ENSEMBL Gene Tree for FBXL7 (if available)
    TreeFam Gene Tree for FBXL7 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBXL7 gene
    FBXL172  FBXL22  FBXL202  ENSG000002371022  FBXL132  FBXL162  AMN12  LRRC292  
    FBXL152  FBXL42  FBXL142  
    2 SIMAP similar genes for FBXL7 using alignment to 4 protein entries:     FBXL7_HUMAN (see all proteins):
    FBXL2    FBXL20

    FBXL7 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

    10/7171 NCBI SNPs in FBXL7 are shown (see all 7171    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1827520891,2
    --15498329(+) TTTCAA/TATATG 1 -- us2k10--------
    rs756301311,2
    --15498397(+) AGACCA/GTGCTA 1 -- us2k10--------
    rs788070581,2
    --15498578(+) ATCACA/GGGAGT 1 -- us2k13Minor allele frequency- G:0.32CSA WA 120
    rs1137530051,2
    --15498711(+) GAGCTT/CGGATC 1 -- us2k12Minor allele frequency- C:0.04CSA WA 120
    rs1127367981,2
    --15498801(+) AATACA/GGACCA 1 -- us2k12Minor allele frequency- G:0.06CSA WA 120
    rs1874418161,2
    --15498862(+) TTCTAA/GATTGG 1 -- us2k10--------
    rs352917091,2
    C--15498918(+) TTTTGA/GTATCT 1 -- us2k11Minor allele frequency- G:0.00NA 2
    rs774169501,2
    F,--15499249(+) GTTAAA/GTCACT 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1921892191,2
    --15499269(+) TGCATG/TTGGTC 1 -- us2k10--------
    rs1134528721,2
    --15499502(+) TTAGGG/ATGTAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for FBXL7 (15500305 - 15750305 bp, first 250kb of FBXL7)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 27 variations for FBXL7
         13 CNVs: 0975 64130 44190 10095 37928 92899 51600 2570 99068 92900 51599 51602 51603
         14 Indels: 51601 22438 22442 51604 51605 22443 22440 80837 33785 22439 22441 51606 22445 22444

    SABiosciences Cancer Mutation PCR Assays
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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

    FBXL7 for disorders           About GeneDecksing

    OMIM gene information: 605656    OMIM disorders: --

    1 disease for FBXL7:    About MalaCards
    breast cancer

    Human Genome Epidemiology (HuGE) Navigator: FBXL7 (2 documents)

    Export disorders for FBXL7 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 FBXL7 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with FBXL7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a family of human F-box proteins. (PubMed id 10531035)1, 2, 3 Cenciarelli C....Pagano M. (1999)
    2. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2, 3 Nagase T....Ohara O. (1998)
    3. 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)
    4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    5. cDNA cloning and expression analysis of new members of the mammalian F-box protein family. (PubMed id 10945468)1, 2 Ilyin G.P.... Guguen-Guillouzo C. (2000)
    6. The genetic architecture of economic and political pre ferences. (PubMed id 22566634)1 Benjamin D.J....Visscher P.M. (2012)
    7. Novel E3 ligase component FBXL7 ubiquitinates and degr ades Aurora A, causing mitotic arrest. (PubMed id 22306998)1 Coon T.A....Chen B.B. (2012)
    8. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (2012)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23194 HGNC: 13604 AceView: FBXL7 Ensembl:ENSG00000183580 euGenes: HUgn23194
    ECgene: FBXL7 H-InvDB: FBXL7

    (According to HUGE)
    About This Section
    HUGE: KIAA0840

    (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 FBXL7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FBXL7 gene:
    Search GeneIP for patents involving FBXL7

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



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