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Aliases for FBXO2 Gene

Aliases for FBXO2 Gene

  • F-Box Protein 2 2 3 5
  • Organ Of Corti Protein 1 2 3
  • F-Box Only Protein 2 2 3
  • FBX2 3 4
  • F-Box Gene 1 3
  • NFB42 3
  • FBS1 3
  • FBG1 3
  • OCP1 3

External Ids for FBXO2 Gene

Previous HGNC Symbols for FBXO2 Gene

  • OCP1

Previous GeneCards Identifiers for FBXO2 Gene

  • GC01M011669
  • GC01M011552
  • GC01M011317
  • GC01M011417
  • GC01M011637
  • GC01M010862

Summaries for FBXO2 Gene

Entrez Gene Summary for FBXO2 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. This protein is highly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining neurons in a postmitotic state. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBXO2 Gene

FBXO2 (F-Box Protein 2) is a Protein Coding gene. Diseases associated with FBXO2 include Benign Paroxysmal Positional Nystagmus. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ubiquitin-protein transferase activity and glycoprotein binding. An important paralog of this gene is FBXO6.

UniProtKB/Swiss-Prot for FBXO2 Gene

  • Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Involved in the endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Prevents formation of cytosolic aggregates of unfolded glycoproteins that have been retrotranslocated into the cytosol. Able to recognize and bind denatured glycoproteins, preferentially those of the high-mannose type (By similarity).

Gene Wiki entry for FBXO2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO2 Gene

Genomics for FBXO2 Gene

Regulatory Elements for FBXO2 Gene

Enhancers for FBXO2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G011652 1 ENCODE 16.8 +1.8 1760 3.1 PKNOX1 AGO1 ARID4B SIN3A DMAP1 ZNF48 GLIS2 SP3 SP5 REST FBXO2 FBXO6 GC01M011650 FBXO44
GH01G011707 1.2 ENCODE dbSUPER 11.4 -51.9 -51852 0.7 HDGF NFIB ARNT NFRKB FEZF1 ZNF766 GLIS2 POLR3A SCRT2 ZNF548 EXOSC10 AGTRAP ENSG00000226849 MTOR FBXO2 FBXO44 C1orf167 LOC102724659 MTHFR ENSG00000271895
GH01G011689 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.7 -35.9 -35887 4.7 HDGF ATF1 PKNOX1 ARNT AGO1 ARID4B TCF12 ZNF766 GATA2 FOS MAD2L2 FBXO2 MTHFR CLCN6 TNFRSF1B DRAXIN
GH01G011705 0.8 dbSUPER 11.4 -50.7 -50740 1.1 BCOR TBP PTBP1 NFRKB ZMYM3 CEBPG E2F1 POLR2A POLR3A ADNP AGTRAP MTOR FBXO2 FBXO44 C1orf167 LOC102724659 ENSG00000271895 EXOSC10 C1orf127 MAD2L2
GH01G011704 0.8 ENCODE dbSUPER 11.4 -48.6 -48644 0.1 PKNOX1 PBX2 ZBTB20 EZH2 AGTRAP FBXO2 FBXO44 C1orf167 LOC102724659 C1orf127 MAD2L2 GC01P011722
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBXO2 on UCSC Golden Path with GeneCards custom track

Promoters for FBXO2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000001418 985 1201 PKNOX1 AGO1 ARID4B GATA4 PCBP1 EGR2 SP5 ZBTB2 ZNF398 REST

Genomic Location for FBXO2 Gene

Chromosome:
1
Start:
11,648,361 bp from pter
End:
11,655,785 bp from pter
Size:
7,425 bases
Orientation:
Minus strand

Genomic View for FBXO2 Gene

Genes around FBXO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO2 Gene

Proteins for FBXO2 Gene

  • Protein details for FBXO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UK22-FBX2_HUMAN
    Recommended name:
    F-box only protein 2
    Protein Accession:
    Q9UK22
    Secondary Accessions:
    • B2R7K7
    • Q5TGY0
    • Q6FGJ7
    • Q8TB29
    • Q9UKC6

    Protein attributes for FBXO2 Gene

    Size:
    296 amino acids
    Molecular mass:
    33328 Da
    Quaternary structure:
    • Component of the SCF(FBXO2) complex consisting of CUL1, RBX1, SKP1 and FBXO2. Predominantly detected as heterodimer with SKP1; the heterodimer with SKP1 is not part of the SCF(FBXO2) complex (By similarity).

neXtProt entry for FBXO2 Gene

Post-translational modifications for FBXO2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FBXO2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for FBXO2 Gene

Domains & Families for FBXO2 Gene

Gene Families for FBXO2 Gene

Protein Domains for FBXO2 Gene

Suggested Antigen Peptide Sequences for FBXO2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FBXO2: view

No data available for UniProtKB/Swiss-Prot for FBXO2 Gene

Function for FBXO2 Gene

Molecular function for FBXO2 Gene

UniProtKB/Swiss-Prot Function:
Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Involved in the endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Prevents formation of cytosolic aggregates of unfolded glycoproteins that have been retrotranslocated into the cytosol. Able to recognize and bind denatured glycoproteins, preferentially those of the high-mannose type (By similarity).

Gene Ontology (GO) - Molecular Function for FBXO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IEA --
GO:0001948 glycoprotein binding IEA --
GO:0004842 ubiquitin-protein transferase activity EXP,TAS --
GO:0005515 protein binding IPI 25416956
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with FBXO2: view
genes like me logo Genes that share phenotypes with FBXO2: view

Animal Models for FBXO2 Gene

MGI Knock Outs for FBXO2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXO2 Gene

Localization for FBXO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXO2 Gene

Cytoplasm. Microsome membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBXO2 gene
Compartment Confidence
extracellular 5
cytosol 5
endoplasmic reticulum 4
nucleus 3

Gene Ontology (GO) - Cellular Components for FBXO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 21378169
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0019005 SCF ubiquitin ligase complex ISS,IEA --
genes like me logo Genes that share ontologies with FBXO2: view

Pathways & Interactions for FBXO2 Gene

genes like me logo Genes that share pathways with FBXO2: view

UniProtKB/Swiss-Prot Q9UK22-FBX2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for FBXO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0006464 cellular protein modification process TAS 10531035
GO:0006508 proteolysis TAS 10531035
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0006516 glycoprotein catabolic process IEA,ISS --
genes like me logo Genes that share ontologies with FBXO2: view

No data available for SIGNOR curated interactions for FBXO2 Gene

Transcripts for FBXO2 Gene

Unigene Clusters for FBXO2 Gene

F-box protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO2 Gene

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

Relevant External Links for FBXO2 Gene

GeneLoc Exon Structure for
FBXO2
ECgene alternative splicing isoforms for
FBXO2

Expression for FBXO2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXO2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBXO2 Gene

This gene is overexpressed in Brain - Amygdala (x4.9).

Protein differential expression in normal tissues from HIPED for FBXO2 Gene

This gene is overexpressed in Spinal cord (27.9), Liver (12.0), and Frontal cortex (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FBXO2 Gene



NURSA nuclear receptor signaling pathways regulating expression of FBXO2 Gene:

FBXO2

SOURCE GeneReport for Unigene cluster for FBXO2 Gene:

Hs.132753

Evidence on tissue expression from TISSUES for FBXO2 Gene

  • Nervous system(4.7)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with FBXO2: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO2 Gene

Orthologs for FBXO2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXO2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXO2 34 35
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia FBXO2 34 35
  • 90.3 (n)
dog
(Canis familiaris)
Mammalia FBXO2 34 35
  • 89.98 (n)
rat
(Rattus norvegicus)
Mammalia Fbxo2 34
  • 87.56 (n)
mouse
(Mus musculus)
Mammalia Fbxo2 34 16 35
  • 87.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO2 35
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXO2 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXO2 34 35
  • 70.04 (n)
lizard
(Anolis carolinensis)
Reptilia FBXO2 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733128 34
  • 58.09 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:175088 34 35
  • 60.12 (n)
zgc:100832 35
  • 43 (a)
ManyToMany
zgc:173570 35
  • 40 (a)
ManyToMany
si:rp71-1k13.6 35
  • 39 (a)
ManyToMany
zgc:153722 35
  • 39 (a)
ManyToMany
fbxo44 35
  • 36 (a)
ManyToMany
zgc:114174 35
  • 34 (a)
ManyToMany
zgc:114081 35
  • 33 (a)
ManyToMany
si:dkey-147f3.4 35 35
  • 30 (a)
ManyToMany
si:dkey-147f3.8 35
  • 23 (a)
ManyToMany
Species where no ortholog for FBXO2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FBXO2 Gene

ENSEMBL:
Gene Tree for FBXO2 (if available)
TreeFam:
Gene Tree for FBXO2 (if available)

Paralogs for FBXO2 Gene

Paralogs for FBXO2 Gene

(4) SIMAP similar genes for FBXO2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FBXO2: view

Variants for FBXO2 Gene

Sequence variations from dbSNP and Humsavar for FBXO2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000975714 -- 11,648,060(+) AGGAT(-/G)GGGGG downstream-variant-500B
rs1001006791 -- 11,648,240(+) CGGGC(C/T)CAGCT downstream-variant-500B
rs1001074408 -- 11,656,176(+) TAGTA(A/T)GAGCC intron-variant, upstream-variant-2KB
rs1001165716 -- 11,653,494(+) TTGGG(A/T)GCAAG intron-variant, upstream-variant-2KB
rs1001500822 -- 11,650,522(+) AGAAC(C/T)GCTGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FBXO2 Gene

Variant ID Type Subtype PubMed ID
nsv1075569 CNV deletion 25765185
nsv1112519 CNV deletion 24896259
nsv515826 CNV loss 19592680
nsv521468 CNV loss 19592680
nsv545416 CNV loss 21841781
nsv545417 CNV loss 21841781
nsv832758 CNV loss 17160897

Variation tolerance for FBXO2 Gene

Residual Variation Intolerance Score: 50.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.15; 87.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBXO2 Gene

Human Gene Mutation Database (HGMD)
FBXO2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXO2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO2 Gene

Disorders for FBXO2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FBXO2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
benign paroxysmal positional nystagmus
  • benign paroxysmal positional vertigo
- elite association - COSMIC cancer census association via MalaCards
Search FBXO2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FBXO2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBXO2
genes like me logo Genes that share disorders with FBXO2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXO2 Gene

Publications for FBXO2 Gene

  1. Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C. … Pagano M. (Curr. Biol. 1999) 2 3 4 64
  2. A family of mammalian F-box proteins. (PMID: 10531037) Winston J.T. … Harper J.W. (Curr. Biol. 1999) 2 3 4 64
  3. Diversity in tissue expression, substrate binding, and SCF complex formation for a lectin family of ubiquitin ligases. (PMID: 18203720) Glenn K.A. … Paulson H.L. (J. Biol. Chem. 2008) 3 22 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for FBXO2 Gene

Sources for FBXO2 Gene

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