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

FBXL20 Gene

protein-coding   GIFtS: 50
GCID: GC17M037409

F-box and leucine-rich repeat protein 20

 Explore 7 diseases affiliated with
FBXL20 via our new
 Human Malady Compendium 
Biological research products
for FBXL20
    

(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 201 2 3     F-Box Protein FBL22
Fbl21 2     F-Box/LRR-Repeat Protein 202
Fbl201 2     FBL23
MGC154821     F-Box/LRR-Repeat Protein 2-Like3

External Ids:    HGNC: 246791   Entrez Gene: 849612   Ensembl: ENSG000001083067   OMIM: 6090865   UniProtKB: Q96IG23   

Export aliases for FBXL20 gene to outside databases

Previous GC identifers: GC17M037792 GC17M034670 GC17M037416 GC17M033204


(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 FBXL20:
Members of the F-box protein family, such as FBXL20, 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: FXL20_HUMAN, Q96IG2
Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Role
in neural transmission (By similarity)




(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_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBXL20 gene promoter:
         AP-1   ATF-2   Cdc5   Arnt   C/EBPalpha   AREB6   SRY   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXL20 promoter sequence
   Search SABiosciences Chromatin IP Primers for FBXL20

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXL20


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

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q21.2

FBXL20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXL20 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M037409:  view genomic region     (about GC identifiers)

Start:
37,408,897 bp from pter      End:
37,558,776 bp from pter
Size:
149,880 bases      Orientation:
minus 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: FXL20_HUMAN, Q96IG2 (See protein sequence)
Recommended Name: F-box/LRR-repeat protein 20  
Size: 436 amino acids; 48423 Da
Subunit: Interacts with SKP1 and CUL1 (By similarity)
Subcellular location: Cytoplasm (By similarity)
Secondary accessions: A8K729 Q38J52
Alternative splicing: 2 isoforms:  Q96IG2-1   Q96IG2-2   

Explore the universe of human proteins at neXtProt for FBXL20: NX_Q96IG2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96IG2

  • FBXL20 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171835.1  NP_116264.2  

    ENSEMBL proteins: 
     ENSP00000462271   ENSP00000377832   ENSP00000264658   ENSP00000462878   ENSP00000463132  

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    Uscn Proteins for FBXL20

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--


    FBXL20 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

    FBXL20 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 Q96IG2

    ProtoNet protein and cluster: Q96IG2

    UniProtKB/Swiss-Prot: FXL20_HUMAN, Q96IG2
    Similarity: Contains 1 F-box domain
    Similarity: Contains 13 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: FXL20_HUMAN, Q96IG2
    Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Role
    in neural transmission (By similarity)

    miRNA
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    hsa-miR-128 hsa-miR-605 hsa-miR-3921 hsa-miR-637 hsa-miR-3170 hsa-miR-510 hsa-miR-1266 hsa-miR-455-5p
    SwitchGear 3'UTR luciferase reporter plasmidFBXL20 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----


    FBXL20 for ontologies           About GeneDecksing


    4 GenomeRNAi human phenotypes for FBXL20:
     G0/1 arrest  Increased G1 DNA content  Increased cell death HMECs cel  Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Fbxl20tm1Seto for FBXL20
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fbxl20):
     endocrine/exocrine gland  growth/size  mortality/aging  nervous system 

    FBXL20 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FBXL20

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for FBXL20 (Q96IG23 ENSP000002646584) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUL1Q136163, ENSP000003268044I2D: score=2 STRING: ENSP00000326804
    RIMS1Q86UR53, ENSP000002648394I2D: score=2 STRING: ENSP00000264839
    SKP1P632083, ENSP000002314874I2D: score=2 STRING: ENSP00000231487
    RAD23BP547273I2D: score=2 
    COL7A1Q023883I2D: score=1 
    About this table

    (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 FBXL20
    Search CenterWatch for drugs/clinical trials and news about FBXL20 / FXL20 

    (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 FBXL20 gene (2 alternative transcripts): 
    NM_001184906.1  NM_032875.2  

    Unigene Cluster for FBXL20:

    F-box and leucine-rich repeat protein 20
    Hs.462946  [show with all ESTs]
    Unigene Representative Sequence: NM_032875
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000583610 ENST00000394294 ENST00000264658(uc002hrt.3 uc010cvu.3)
    ENST00000577399 ENST00000581781

    miRNA
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    8/141 QIAGEN miScript miRNA Assays for microRNAs that regulate FBXL20 (see all 141):
    hsa-miR-128 hsa-miR-605 hsa-miR-3921 hsa-miR-637 hsa-miR-3170 hsa-miR-510 hsa-miR-1266 hsa-miR-455-5p
    SwitchGear 3'UTR luciferase reporter plasmidFBXL20 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK024690.1 AK123048.1 AK291844.1 AK312612.1 AL117623.1 BC007557.1 BC042012.1 DQ223959.1 

    19 DOTS entries:

    DT.87017452  DT.100807858  DT.107887  DT.453917  DT.65285153  DT.100016105  DT.75121748  DT.95351935 
    DT.435911  DT.97838451  DT.120987184  DT.97772681  DT.40195208  DT.40243904  DT.92034353  DT.100032144 
    DT.100856937  DT.40300075  DT.95094303 

    24/44 AceView cDNA sequences (see all 44):

    BG105188 BX105698 BF433100 BF732482 BQ435996 AA972098 NM_032875 AA825816 
    BC007557 BU184200 AI122770 AI906026 BM480021 AW294390 BQ436371 AA813428 
    AA707598 AK123048 BI519367 AW292515 AA745617 BM906344 BF809110 BE292933 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FBXL20    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b
    SP1:                                                                                            -               
    SP2:                                            -                                               -               
    SP3:                                                                                                            


    ECgene alternative splicing isoforms for FBXL20

    (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

    FBXL20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCACAAAGA

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

    About this image
    See FBXL20 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBXL20

    SOURCE GeneReport for Unigene cluster: Hs.462946
        SABiosciences Expression via Pathway-Focused PCR Array including FBXL20: 
              Ubiquitin Ligases in human mouse rat

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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 FBXL20 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FBXL201 F-box and leucine-rich repeat protein 20 82.62(n)
    97.63(a)
      771869  XM_001235090.2  XP_001235091.2 
    lizard
    (Anolis carolinensis)
    Reptilia FBXL206
    --
    92(a)
    1 ↔ 1
    6(67619713-67645415)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.325292 Xenopus laevis transcribed sequence with moderate similarity more 76.56(n)    CD328092.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003311301 f-box/LRR-repeat protein 20-like 77.8(n)
    93.13(a)
      100331130  XM_002664711.1  XP_002664757.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90031 CG9003 56.93(n)
    59.12(a)
      36244  NM_001103801.1  NP_001097271.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C02F5.76
    Uncharacterized F-box/LRR-repeat protein C02F5.7
    44(a)
    1 → many
    III(8229654-8232490)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G154751 F-box/LRR-repeat protein 4 42.39(n)
    29.97(a)
      827219  NM_117637.4  NP_567467.1 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 3)
    F-box/LRR-repeat protein 3, putative, expressed
    F-box/LRR domain containing protein, putative, exp...
    (see all 3)
    15(a)
    15(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    11(416567-420229)
    12(463682-467351)


    ENSEMBL Gene Tree for FBXL20 (if available)
    TreeFam Gene Tree for FBXL20 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBXL20 gene
    FBXL172  FBXL22  ENSG000002371022  FBXL132  FBXL162  FBXL72  AMN12  LRRC292  
    FBXL152  FBXL42  FBXL142  
    2 SIMAP similar genes for FBXL20 using alignment to 3 protein entries:     FXL20_HUMAN (see all proteins):
    FBXL2    FBXL7

    FBXL20 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

    10/2627 NCBI SNPs in FBXL20 are shown (see all 2627    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1834218621,2
    --37408430(+) ATACTG/TTTATC 2 -- ds50010--------
    rs1415962411,2
    --37408723(+) TGGCT-/GGGGTTAA 2 -- ds50010--------
    rs1381466311,2
    C,--37408726(+) CTGTT-/AAAAAA 2 -- ds50010--------
    rs1173972691,2
    C,F,--37408742(+) TAAACG/AGNNNN 2 -- ds50011Minor allele frequency- A:0.02NA 120
    rs758047361,2
    C,F,--37408841(+) CTCACG/CAGTAG 2 -- ds50011Minor allele frequency- C:0.07NA 120
    rs107175441,2
    C--37409021(+) tttttT/-AGTCC 2 -- ut312Minor allele frequency- -:0.25NA 4
    rs747326471,2
    --37409069(+) AATCCT/CCTACT 2 -- ut311Minor allele frequency- C:0.01EA 120
    rs1860137051,2
    --37409203(+) AACTGC/TGTCGG 2 -- ut310--------
    rs1412366741,2
    --37409275(+) TCACAC/TACTGC 2 -- ut310--------
    rs1449479981,2
    --37409505(+) CTCTGA/CGCTCT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for FBXL20 (37408897 - 37558776 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for FBXL20
         2 CNVs: 102451 5006
         2 Indels: 67191 45537

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FBXL20
    DNA2.0 Custom Variant and Variant Library Synthesis for FBXL20

    (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

    FBXL20 for disorders           About GeneDecksing

    OMIM gene information: 609086    OMIM disorders: --

    7 diseases for FBXL20:    About MalaCards
    urinary tract obstruction    primary biliary cirrhosis    anuria    renal vascular disease
    vascular disease    nephropathy    breast cancer

    5 diseases from the University of Copenhagen DISEASES database for FBXL20:
    Kidney failure     Proteinuria     Nephritis     Hypertension
    Diabetes mellitus
    Human Genome Epidemiology (HuGE) Navigator: FBXL20 (1 document)

    Export disorders for FBXL20 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 FBXL20 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with FBXL20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Genome-wide association study identifies 12 new susce ptibility loci for primary biliary cirrhosis. (PubMed id 21399635)1 Mells G.F....Anderson C.A. (2011)
    5. Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer. (PubMed id 19124506)1 Mavaddat N....Pharoah P.D. (2009)
    6. Phosphoproteome of resting human platelets. (PubMed id 18088087)2 Zahedi R.P.... Sickmann A. (2008)
    7. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    9. 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)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84961 HGNC: 24679 AceView: FBXL20 Ensembl:ENSG00000108306 euGenes: HUgn84961
    ECgene: FBXL20 H-InvDB: FBXL20

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FBXL20 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 FBXL20 gene:
    Search GeneIP for patents involving FBXL20

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



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