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

FBXO22 Gene

protein-coding   GIFtS: 44
GCID: GC15P076196

F-Box Protein 22

(Previous name: F-box only protein 22)
  Search for FBXO22
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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 221 2
FBX222 3 5
F-Box Only Protein 221 2
FIST Domain Containing 11 2
F-Box Protein FBX22p442 3
FISTC12

External Ids:    HGNC: 135931   Entrez Gene: 262632   Ensembl: ENSG000001671967   OMIM: 6090965   UniProtKB: Q8NEZ53   
ORGUL members:         
NONCODE14:n410475      

Export aliases for FBXO22 gene to outside databases

Previous GC identifers: GC15P072072 GC15P069285 GC15P073772 GC15P073912 GC15P073983


(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 FBXO22 Gene:
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 the 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 Fbxs class and, as a transcriptional target of the tumor protein p53, is thought to be
involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Dec 2010)

GeneCards Summary for FBXO22 Gene: 
FBXO22 (F-box protein 22) is a protein-coding gene, and is affiliated with the lncRNA class. GO annotations related to this gene include ubiquitin-protein ligase activity.

UniProtKB/Swiss-Prot: FBX22_HUMAN, Q8NEZ5
Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.
Promotes the proteasome-dependent degradation of key sarcomeric proteins, such as alpha-actinin (ACTN2) and
filamin-C (FLNC), essential for maintenance of normal contractile function




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBXO22 gene promoter:
         AML1a   ATF-2   Tal-1beta   HNF-1A   Arnt   POU2F1   HNF-1   SEF-1 (1)   ITF-2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXO22 promoter sequence
   Search SABiosciences Chromatin IP Primers for FBXO22

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXO22


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

Entrez Gene cytogenetic band: 15q24.2   Ensembl cytogenetic band:  15q24.2   HGNC cytogenetic band: 15q23

FBXO22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXO22 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P076196:  view genomic region     (about GC identifiers)

Start:
76,196,200 bp from pter      End:
76,227,609 bp from pter
Size:
31,410 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FBX22_HUMAN, Q8NEZ5 (See protein sequence)
Recommended Name: F-box only protein 22  
Size: 403 amino acids; 44508 Da
Subunit: Directly interacts with SKP1 and CUL1
Subcellular location: Cytoplasm, myofibril, sarcomere, Z line (By similarity)
Sequence caution: Sequence=AAH39024.1; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: Q0D2P8 Q6PIL5 Q8IXW3 Q9H824 Q9UKC0
Alternative splicing: 3 isoforms:  Q8NEZ5-1   Q8NEZ5-2   Q8NEZ5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FBXO22: NX_Q8NEZ5

Explore proteomics data for FBXO22 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NEZ5

  • FBXO22 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FBXO22 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_036302.1  NP_671717.1  

    ENSEMBL proteins: 
     ENSP00000307833   ENSP00000456198   ENSP00000396442   ENSP00000457531   ENSP00000457177  
     ENSP00000457569   ENSP00000458022   ENSP00000457297   ENSP00000439270  

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    Cloud-Clone Corp. Proteins for FBXO22 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0030018Z disc IEA--

    FBXO22 for ontologies           About GeneDecksing



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

    2 InterPro protein domains:
     IPR019494 FIST_C_domain
     IPR001810 F-box_dom_cyclin-like

    Graphical View of Domain Structure for InterPro Entry Q8NEZ5

    ProtoNet protein and cluster: Q8NEZ5

    UniProtKB/Swiss-Prot: FBX22_HUMAN, Q8NEZ5
    Similarity: Contains 1 F-box domain


    FBXO22 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FBX22_HUMAN, Q8NEZ5
    Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.
    Promotes the proteasome-dependent degradation of key sarcomeric proteins, such as alpha-actinin (ACTN2) and
    filamin-C (FLNC), essential for maintenance of normal contractile function

         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 TAS10531037
    GO:0005515protein binding ----
         
    FBXO22 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FBXO22

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for FBXO22 (Q8NEZ53 ENSP000003078334) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS5Q929053, ENSP000003505124I2D: score=2 STRING: ENSP00000350512
    RBX1P628773, ENSP000002162254I2D: score=1 STRING: ENSP00000216225
    COPS6Q7L5N13, ENSP000003041024I2D: score=2 STRING: ENSP00000304102
    MLST8Q9BVC43I2D: score=1 
    PIK3C3Q8NEB93I2D: score=1 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IEA--
    GO:0006464cellular protein modification process TAS10531035
    GO:0006511ubiquitin-dependent protein catabolic process TAS10531035
    GO:0006913nucleocytoplasmic transport IEA--
    GO:0009267cellular response to starvation IEA--

    FBXO22 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 FBXO22 (FBX22)

    Search CenterWatch for drugs/clinical trials and news about FBXO22 / FBX22

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FBXO22 gene (2 alternative transcripts): 
    NM_012170.3  NM_147188.2  

    Unigene Cluster for FBXO22:

    F-box protein 22
    Hs.591115  [show with all ESTs]
    Unigene Representative Sequence: NM_147188
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000308275(uc002bbk.3 uc002bbl.3) ENST00000569749(uc002bbj.2)
    ENST00000453211 ENST00000569022 ENST00000565131 ENST00000565036 ENST00000569054
    ENST00000561885 ENST00000564220 ENST00000540507
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    Additional mRNA sequence: 

    AK024048.1 AK026282.1 AK223500.1 AK294311.1 AK307084.1 AY005144.1 BC020204.1 BC032540.1 
    BC039024.1 BC041691.1 NR_003136.1 NR_037623.1 

    8 DOTS entries:

    DT.100027269  DT.436970  DT.210487  DT.121022500  DT.100792502  DT.100792510  DT.100792505  DT.121022394 

    24/421 AceView cDNA sequences (see all 421):

    CA435214 AI952602 T34914 BC039024 BE327073 BM552234 AW770338 AY005144 
    BM457983 BM712566 CR618654 BU150401 NM_147188 AI201991 BQ438293 AA991604 
    CR609855 BU171019 AA173736 AI148292 BU164363 AA243127 BQ012652 BQ632728 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FBXO22    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
    SP1:                                            -         
    SP2:                                                      
    SP3:              -                                       


    ECgene alternative splicing isoforms for FBXO22

    (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

    FBXO22 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FBXO22 Expression
    About this image


    See FBXO22 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBXO22

    SOURCE GeneReport for Unigene cluster: Hs.591115

    UniProtKB/Swiss-Prot: FBX22_HUMAN, Q8NEZ5
    Tissue specificity: Predominantly expressed in liver, also enriched in cardiac muscle

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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 chordates.

    Orthologs for FBXO22 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbxo221 , 5 F-box protein 221, 5 88.39(n)1
    92.54(a)1
      9 (29.86 cM)5
    719991  NM_028049.21  NP_082325.21 
     552089255 
    chicken
    (Gallus gallus)
    Aves FBXO221 F-box protein 22 70.71(n)
    69.13(a)
      415355  NM_001030545.1  NP_001025716.1 
    lizard
    (Anolis carolinensis)
    Reptilia FBXO226
    Uncharacterized protein
    84(a)
    1 ↔ 1
    GL343254.1(693960-694070)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ083591.12   -- 70.73(n)    BJ083591.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AL921521.12   -- 70.78(n)   334896  AL921521.1 


    ENSEMBL Gene Tree for FBXO22 (if available)
    TreeFam Gene Tree for FBXO22 (if available)

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

    (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) 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

    10/528 SNPs in FBXO22 are shown (see all 528)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs714449391,2
    C--76194273(+) AAGACAAATT/
            
    AAATA
    3 -- us2k11Minor allele frequency- -:0.50NA 2
    rs3356851,2
    C,F,A,H--76194286(-) TTTTGC/GAAATA 3 -- us2k18Minor allele frequency- G:0.32EA NS NA WA 528
    rs3356841,2
    C,F,A,H--76194304(-) gtgacA/GGCATC 3 -- us2k124Minor allele frequency- G:0.15NS EA NA WA CSA 2166
    rs1475777701,2
    --76194320(+) AACTGG/TCCTCT 3 -- us2k10--------
    rs3356831,2
    C,F,A,H--76194486(-) tccccT/Cgcccc 3 -- us2k112Minor allele frequency- C:0.14NA WA CSA EA 376
    rs1812990401,2
    --76194494(+) GGAGGC/TATGAA 3 -- us2k10--------
    rs1142536961,2
    F--76194508(+) CATGCA/GCAGAC 3 -- us2k11Minor allele frequency- G:0.07WA 118
    rs1490699061,2
    --76194516(+) GACTGC/GAGTTC 3 -- us2k10--------
    rs124378161,2
    C,F,H--76194538(+) gcataC/Gtccct 3 -- us2k116Minor allele frequency- N:0.00NS EA NA WA CSA 976
    rs1166043651,2
    F--76194561(+) TCATAC/GATCCA 3 -- us2k11Minor allele frequency- G:0.05WA 118

    HapMap Linkage Disequilibrium report for FBXO22 (76196200 - 76227609 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for FBXO22:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749895CNV Deletion23290073
    esv2749898CNV Deletion23290073
    nsv904398CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FBXO22 for disorders           About MalaCards
    OMIM gene information: 609096    OMIM disorders: --


    FBXO22 for disorders           About GeneDecksing


    Export disorders for FBXO22 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 FBXO22 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with FBXO22)
        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. FIST: a sensory domain for diverse signal transductio n pathways in prokaryotes and ubiquitin signaling in eukaryotes. (PubMed id 17855421)1, 3 Borziak K. and Zhulin I.B. (2007)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. A family of mammalian F-box proteins. (PubMed id 10531037)1, 3 Winston J.T....Harper J.W. (1999)
    6. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    8. GogB is an anti-inflammatory effector that limits tiss ue damage during Salmonella infection through interaction with human FBXO22 and Skp1. (PubMed id 22761574)1 Pilar A.V....Coombes B.K. (2012)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo. (PubMed id 22972877)2 Spaich S.... Frey N. (2012)

    (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: 26263 HGNC: 13593 AceView: FBXO22 Ensembl:ENSG00000167196 euGenes: HUgn26263
    ECgene: FBXO22 H-InvDB: FBXO22

    (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 FBXO22 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 FBXO22 gene:
    Search GeneIP for patents involving FBXO22

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



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