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FBXO7 Gene

protein-coding   GIFtS: 58
GCID: GC22P032870

F-Box Protein 7

(Previous name: F-box only protein 7)
  See FBXO7-related diseases
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 71 2     PARK152 5
FBX72 3 5     PKPS2 5
F-Box Only Protein 71 2     FBX072
FBX2 5     

External Ids:    HGNC: 135861   Entrez Gene: 257932   Ensembl: ENSG000001002257   OMIM: 6056485   UniProtKB: Q9Y3I13   

Export aliases for FBXO7 gene to outside databases

Previous GC identifers: GC22P029566 GC22P031195 GC22P015827


(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 FBXO7 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 it may play a role in regulation of hematopoiesis. Alternatively spliced
transcript variants of this gene have been identified with the full-length natures of only some variants being
determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for FBXO7 Gene:
FBXO7 (F-box protein 7) is a protein-coding gene. Diseases associated with FBXO7 include fbxo7-related parkinson disease, and panophthalmitis. GO annotations related to this gene include ubiquitin-protein ligase activity.

UniProtKB/Swiss-Prot: FBX7_HUMAN, Q9Y3I1
Function: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex
which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes BIRC2 and
DLGAP5. Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy
(mitophagy) by targeting PARK2 to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination

Gene Wiki entry for FBXO7 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBXO7 gene promoter:
         GATA-3   Olf-1   CUTL1   GATA-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXO7 promoter sequence
   Search Chromatin IP Primers for FBXO7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBXO7


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

Entrez Gene cytogenetic band: 22q12.3   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q12.3

FBXO7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXO7 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P032870:  view genomic region     (about GC identifiers)

Start:
32,870,663 bp from pter      End:
32,894,818 bp from pter
Size:
24,156 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FBX7_HUMAN, Q9Y3I1 (See protein sequence)
Recommended Name: F-box only protein 7  
Size: 522 amino acids; 58503 Da
Subunit: Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO7) formed of CUL1, SKP1,
RBX1 and FBXO7. Interacts via its C-terminal proline-rich region with DLGAP5. Interacts with BIRC2. Interacts
with CDK6 and promotes its interaction with D-type cyclin. Isoform 1 interacts (via the N-terminal Ubl domain)
with PARK2. Isoforms that lack the ubiquitin-like domain do not interact with PARK2. Isoform 1 and isoform 2
interact (via N-terminal region) with PINK1. Isoform 3 does not interact with PINK1. Interacts with PSMF1
Sequence caution: Sequence=AAF04471.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for FBXO7:
4L9C (3D)        4L9H (3D)    
Secondary accessions: B4DNB3 B4DWX5 Q5TGC4 Q5TI86 Q96HM6 Q9UF21 Q9UKT2
Alternative splicing: 3 isoforms:  Q9Y3I1-1   Q9Y3I1-2   Q9Y3I1-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FBXO7: NX_Q9Y3I1

Explore proteomics data for FBXO7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys309, Lys393
  • Modification sites at PhosphoSitePlus

  • See FBXO7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001028196.1  NP_001244919.1  NP_036311.3  

    ENSEMBL proteins: 
     ENSP00000266087   ENSP00000406155   ENSP00000395823   ENSP00000388547   ENSP00000380571  
     ENSP00000404388   ENSP00000371490  

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

    2 InterPro protein domains:
     IPR001810 F-box_dom
     IPR021625 FP_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y3I1

    ProtoNet protein and cluster: Q9Y3I1

    UniProtKB/Swiss-Prot: FBX7_HUMAN, Q9Y3I1
    Domain: The ubiquitin-like region mediates interaction with PARK2
    Domain: The proline-rich region is important for protein-protein interactions
    Similarity: Contains 1 F-box domain


    Find genes that share domains with FBXO7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FBX7_HUMAN, Q9Y3I1
    Function: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex
    which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes BIRC2 and
    DLGAP5. Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy
    (mitophagy) by targeting PARK2 to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity TAS10531035
    GO:0005515protein binding IPI15145941
         
    Find genes that share ontologies with FBXO7           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FBXO7:
     Upregulation of Wnt/beta-caten 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fbxo7):
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  reproductive system 
     vision/eye 

    Find genes that share phenotypes with FBXO7           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FBXO7

    miRNA
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    miRTarBase miRNAs that target FBXO7:
    hsa-mir-877-5p (MIRT037372), hsa-mir-122-5p (MIRT023257)

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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 UniProtKB/Swiss-Prot
    FBX7_HUMAN, Q9Y3I1: Cytoplasm. Nucleus. Mitochondrion. Cytoplasm, cytosol. Note=Predominantly cytoplasmic. A
    minor proportion is detected in the nucleus. Relocates from the cytosol to depolarized mitochondria
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton1
    cytosol1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex IDA--
    GO:0005634nucleus IDA18495667
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA--
    GO:0005829cytosol IDA18495667

    Find genes that share ontologies with FBXO7           About GenesLikeMe


    (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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    UniProtKB/Swiss-Prot: FBX7_HUMAN, Q9Y3I1
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including FBXO7: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FBXO7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for FBXO7 (Q9Y3I11, 2, 3 ENSP000002660874) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SKP1P632081, 3, ENSP000002314874EBI-1161222,EBI-307486 I2D: score=6 STRING: ENSP00000231487
    CUL1Q136163, ENSP000003268044I2D: score=4 STRING: ENSP00000326804
    RBBP6Q7Z6E93, ENSP000003178724I2D: score=2 STRING: ENSP00000317872
    DLGAP5Q153983, ENSP000002471914I2D: score=1 STRING: ENSP00000247191
    UBE2D2P628373, ENSP000003817174I2D: score=1 STRING: ENSP00000381717
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000422mitochondrion degradation IMP--
    GO:0006511ubiquitin-dependent protein catabolic process TAS10531035
    GO:0006626protein targeting to mitochondrion IMP--
    GO:0008219cell death IEA--
    GO:0016567protein ubiquitination IMP--

    Find genes that share ontologies with FBXO7           About GenesLikeMe



    (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 FBXO7 (FBX7)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FBXO7 gene (3 alternative transcripts): 
    NM_001033024.1  NM_001257990.1  NM_012179.3  

    Unigene Cluster for FBXO7:

    F-box protein 7
    Hs.5912  [show with all ESTs]
    Unigene Representative Sequence: AK054739
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000266087(uc003amq.3) ENST00000420700 ENST00000425028 ENST00000492535(uc003amp.1 uc003amv.3)
    ENST00000452138 ENST00000397426(uc003amu.3) ENST00000444207 ENST00000465418
    ENST00000484607 ENST00000382058(uc003amt.3)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat FBXO7
      QuantiFast Probe-based Assays in human, mouse, rat FBXO7

    Additional mRNA sequence: 

    AF129537.1 AF233225.1 AK054739.1 AK226087.1 AK291972.1 AK297841.1 AK301716.1 AL050254.1 
    BC008361.1 CR456491.1 

    Selected DOTS entries (see all 38):

    DT.40276194  DT.100865003  DT.95341739  DT.100803679  DT.100653761  DT.100842986  DT.100862372  DT.95252313 
    DT.97862901  DT.92469537  DT.100862896  DT.120635006  DT.40225298  DT.100653759  DT.95341863  DT.100638649 
    DT.92469482  DT.95253953  DT.100645063  DT.100767149  DT.100852230  DT.120634965  DT.120634969  DT.95341866 

    Selected AceView cDNA sequences (see all 773):

    AW004988 AA779590 BQ683001 BP361410 AI127612 AI920931 AI093350 BG149598 
    BU736708 BX391371 BG149314 BX504897 BQ684377 CR595967 BQ182316 CR603352 
    AI144280 BU619292 AI370222 AW028461 AW337133 BI036029 BM563354 AI985865 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FBXO7 (see all 11)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11
    SP1:                          -     -     -     -     -                                               -                                       
    SP2:                                                  -                                               -                                       
    SP3:                                                  -     -     -                                   -                                       
    SP4:                                                                                                  -     -     -                           
    SP5:                                                  -     -     -     -     -     -     -           -                                       


    ECgene alternative splicing isoforms for FBXO7

    (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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    FBXO7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATTGATTT
    FBXO7 Expression
    About this image


    FBXO7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
     
     Thyroid (Endocrine System)
     
     Lung (Respiratory System)
     
     Ovary (Reproductive System)
    FBXO7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBXO7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.5912
        Pathway & Disease-focused RT2 Profiler PCR Array including FBXO7: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXO7

    (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 FBXO7 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbxo71 , 5 F-box protein 71, 5 79.65(n)1
    73.32(a)1
      10 (41.91 cM)5
    697541  NM_153195.21  NP_694875.21 
     860219725 
    chicken
    (Gallus gallus)
    Aves FBXO71 F-box protein 7 69.29(n)
    64.23(a)
      418063  NM_001012537.2  NP_001012555.2 
    lizard
    (Anolis carolinensis)
    Reptilia FBXO76
    F-box protein 7
    61(a)
    1 ↔ 1
    5(19933485-19950024)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fbxo71 F-box protein 7 56.14(n)
    52.34(a)
      780025  NM_001079102.1  NP_001072570.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fbxo71 F-box protein 7 50.99(n)
    44.04(a)
      558097  NM_001025499.1  NP_001020670.1 


    ENSEMBL Gene Tree for FBXO7 (if available)
    TreeFam Gene Tree for FBXO7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FBXO7 gene
    1 SIMAP similar gene for FBXO7 using alignment to 5 protein entries:     FBX7_HUMAN (see all proteins):
    DKFZp686B08113

    Find genes that share paralogs with FBXO7           About GenesLikeMe



    (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 FBXO7 (see all 704)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs717991101,2,,4
    C,FParkinson disease 15 (PARK15)4 pathogenic116810901(+) ATCTGC/G/TGTGAT 6 R G mis13CA NA 6150
    rs96069601,2
    C,A--16790651(+) gatcaC/Tgccac 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs2021369381,2
    --16790696(+) TCTCA-/AACAACAA 1 -- us2k10--------
    rs59985101,2
    C,A--16790713(+) AACAAA/CAAAAA 1 -- us2k12Minor allele frequency- C:0.28NA 122
    rs1825742301,2
    --16790795(+) TGTTCC/GGTGTA 1 -- us2k10--------
    rs1164117201,2
    C--16790823(+) CTGGCA/GAGTAT 1 -- us2k10--------
    rs59985111,2
    C,F,H--16790851(+) taaaaA/Gtggcc 1 -- us2k17Minor allele frequency- G:0.09NS WA 1062
    rs1927887871,2
    --16791124(+) GGCAGG/TATGTG 3 -- us2k10--------
    rs96095661,2
    C,A--16791135(+) GACAAG/TTGCTG 3 -- us2k15Minor allele frequency- T:0.18WA CSA NA EA 361
    rs343510071,2
    C--16791170(+) GACTCT/-TAAGG 3 -- us2k11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for FBXO7 (32870663 - 32894818 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FBXO7: --
    Human Gene Mutation Database (HGMD): FBXO7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FBXO7
    DNA2.0 Custom Variant and Variant Library Synthesis for FBXO7

    (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: 605648   
    OMIM disorders: 260300  
    UniProtKB/Swiss-Prot: FBX7_HUMAN, Q9Y3I1
  • Parkinson disease 15 (PARK15) [MIM:260300]: A neurodegenerative disorder characterized by parkinsonian
    and pyramidal signs. Clinical manifestations include tremor, bradykinesia, rigidity, postural instability,
    spasticity, mainly in the lower limbs, and hyperreflexia. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 7 diseases for FBXO7:    
    About MalaCards
    fbxo7-related parkinson disease    panophthalmitis    parkinson disease 15, autosomal recessive    astigmatism
    irregular astigmatism    corneal edema    parkinson's disease

    7 diseases from the University of Copenhagen DISEASES database for FBXO7:
    Corneal edema     Keratoconus     Keratopathy     Panophthalmitis
    Keratitis     Irregular astigmatism     Corneal dystrophy

    Find genes that share disorders with FBXO7           About GenesLikeMe

    Genetic Association Database (GAD): FBXO7
    Human Genome Epidemiology (HuGE) Navigator: FBXO7 (1 document)

    Export disorders for FBXO7 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 FBXO7 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with FBXO7)
        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. (Curr. Biol. 1999)
    2. Fbx7 functions in the SCF complex regulating Cdk1-cyclin B- phosphorylated hepatoma up-regulated protein (HURP) proteolysis by a proline-rich region. (PubMed id 15145941)1, 2, 9 Hsu J.-M.... Huang C.-Y.F. (J. Biol. Chem. 2004)
    3. Structure of a conserved dimerization domain within the F-box protein Fbxo7 and the PI31 proteasome inhibitor. (PubMed id 18495667)1, 2, 9 Kirk R....McDonald N.Q. (J. Biol. Chem. 2008)
    4. The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. (PubMed id 23933751)1, 2 Burchell V.S....Plun-Favreau H. (Nat. Neurosci. 2013)
    5. FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients. (PubMed id 20603184)1, 4 Luo L.Z....Yan X.X. (Neurosci. Lett. 2010)
    6. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. (PubMed id 19038853)1, 3 Di Fonzo A....Bonifati V. (Neurology 2009)
    7. The F-box protein Fbxo7 interacts with human inhibitor of apoptosis protein cIAP1 and promotes cIAP1 ubiquitination. (PubMed id 16510124)1, 2 Chang Y.F.... Yuo C.Y. (Biochem. Biophys. Res. Commun. 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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. (Genome Res. 2004)
    10. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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: 25793 HGNC: 13586 AceView: FBXO7 Ensembl:ENSG00000100225 euGenes: HUgn25793
    ECgene: FBXO7 H-InvDB: FBXO7

    (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 FBXO7 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 FBXO7 gene:
    Search GeneIP for patents involving FBXO7

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



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