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FLASH GENE
Symbol FBXO2 contributors: mct - updated : 28-06-2014
HGNC name F-box protein 2
HGNC id 13581
Location 1p36.22      Physical location : 11.708.449 - 11.714.739
Synonym name
  • F-box gene 1
  • F-box only protein 2
  • organ of Corti protein 1
  • Synonym symbol(s) FBX2, NFB42, FBG1, Fbs1, OCP1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    text arranged in tandem with FBXO2, FBXO6, FBXO44
    STRUCTURE 6.96 kb     6 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    FLJ37118 1p36.22 hypothetical protein FLJ37118 LOC390996 1 similar to Cofilin, non-muscle isoform TARDBP 1p36.22 TAR DNA binding protein AF311304 1p36.22 hypothetical protein AF311304 MASP2 1p36.3-p36.2 mannan-binding lectin serine protease 2 SRM 1p36-p22 spermidine synthase PMSCL2 1p36.22 polymyositis/scleroderma autoantigen 2, 100kDa FRAP1 1p36.3-p36.2 FK506 binding protein 12-rapamycin associated protein 1 CDT6 1p36.3-p36.2 angiopoietin-like factor TERE1 1p36 angiopoietin-like factor KIAA1337 1p36.21 KIAA1337 protein FBXO2 1p36.21 F-box only protein 2 FBX30 1p36.21 F-box protein FBX30 FBXO6 1p36.23-p36.11 F-box only protein 6 MAD2L2 1p36 MAD2 mitotic arrest deficient-like 2 (yeast) LOC374946 1p36.21 hypothetical gene supported by AK075558; BC021286 AGTRAP 1p36.21 angiotensin II receptor-associated protein DKFZp434E1410 1p36.21 hypothetical protein DKFZp434E1410 MTHFR 1p36.3 5,10-methylenetetrahydrofolate reductase (NADPH) CLCN6 1p36.2 chloride channel 6 NPPA 1p36.2 natriuretic peptide precursor A NPPB 1p36.2 natriuretic peptide precursor B LOC390997 1 similar to SET binding factor 1 isoform a; myotubularin-related protein 5 MGC33867 1p36.21 hypothetical protein MGC33867 PLOD 1p36.31 procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI) MFN2 1p36.21 mitofusin 2 FLJ12438 1p36.21 hypothetical protein FLJ12438 TNFRSF8 1p36 tumor necrosis factor receptor superfamily, member 8 TNFRSF1B 1p36.32 tumor necrosis factor receptor superfamily, member 1B LOC390998 1 similar to 60S ribosomal protein L10 (QM protein) (Tumor suppressor QM) (Laminin receptor homolog) FLJ10619
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1724 - 296 - 2004 15109709
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Hearing/EquilibriumearinnercochleaCortihighly Homo sapiens
    Nervousbrain   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal PEST domain
  • a 40AA F-box motif , with a D-Box
  • a C terminus homologous to that of rat Nfb42, a conserved motif thought to recognize sugar chain of N-linked glycoproteins
  • conjugated PhosphoP
    HOMOLOGY
    interspecies ortholog to rattus Nfb42 (neural F-box 42kd)
    intraspecies homolog to FBXO44
    Homologene
    FAMILY F-box protein family
    CATEGORY chaperone/stress , enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • phosphorylating dependent ubiquination
  • mitotic regulator, inhibiting the anaphase promoting complex (cyclosome APC) and preventing mitotic exit in cytostatic factor (CSF) arrested eggs
  • recognizes high-mannose type polysaccharides and either functions as a chaperone or leads to polyubiquitination and finally to degradation
  • FBXO2 and SKP1 are subunits of an SCF E3 ubiquitin ligase
  • brain-enriched F-box protein implicated in the ubiquitination of glycoproteins discarded from the endoplasmic reticulum
  • functions as a chaperone suppressing glycoprotein aggregation
  • FBXO2, SKP1 implicated as potential genetic modifiers in age-related hearing loss
  • inhibit deglycosylation of denatured ribonuclease B by a cytosolic peptide:N-glycanase (PNGase)
  • FBXO2, FBXO6 are involved in the endoplasmic reticulum-associated degradation pathway
  • F-box protein, binding specifically to proteins modified with high-mannose oligosaccharides
  • FBXO2, FBXO6 are N-linked glycoprotein-specific F-box proteins
  • cytoplasmic protein and can bind its substrates only in this compartment
  • regulates APP levels and processing in the brain and may play a role in modulating AD pathogenesis
  • CELLULAR PROCESS cell cycle, division, mitosis
    protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS nervous system
    text maintenance
    PATHWAY
    metabolism
    signaling
    a component putative component of a E3 ubiquitin protein ligase complex (SCF) with SKP1, CUL1, RBX1 bringing ubiquitin conjugating enzymes to substrates recruited by F-box
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds the co-chaperone/ubiquitin ligase STUB1 (C terminus of Hsc-70-interacting protein) through a unique N-terminal PEST domain in FBXO2
  • cochlear FBXO2 binds SKP1, the common binding partner for F-box proteins, and is an unusually abundant inner ear protein
  • interacts with sugar-peptide junctions, which are shielded in native glycoprotein, in many cases, but become accessible to FBXO2 in unfolded glycoproteins
  • FBG1 and APC2 interact directly
  • interacting with RTN4RL2, that is bound by substrate recognition side of FBXO2, via the sugar binding domain of FBXO2, and finally could also regulate its level
  • reduction of BACE1 by FBXO2 overexpression might well be accompanied by reduced RTN4RL2 levels, which both leads to reduced plaque formation and rescue of synaptic deficits in Alzheimer disease 4)
  • also interacts with another protein known for glycoprotein homeostasis, STUB1, a co-chaperon with ubiquitin ligase properties
  • neuron-enriched ubiquitin ligase substrate adaptor that preferentially binds high-mannose glycans on glycoproteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with targeted deletion of Fbxo2 develop age-related hearing loss beginning at 2 months