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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
  • FBG1 3
  • Fbs1 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
  • GC01M010862
  • GC01M011708

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 Class I MHC mediated antigen processing and presentation and Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for FBXO2 Gene

Promoters and enhancers for FBXO2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J011652 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 666.8 +1.8 1759 3.1 ARID4B DMAP1 ZNF48 GLIS2 ZFP91 SP3 SP5 REST KAT8 NFIL3 FBXO2 FBXO6 FBXO44 GC01M011650
GH01J011707 Enhancer 1.1 ENCODE dbSUPER 11.4 -51.9 -51852 0.7 HDGF NFIB ARNT NFRKB FEZF1 ZNF766 GLIS2 POLR3A SCRT2 ZNF548 EXOSC10 TARDBP AGTRAP ENSG00000226849 MTOR FBXO44 FBXO2 C1orf167 LOC102724659 MTHFR
GH01J011689 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.7 -35.9 -35886 4.7 SIN3A TCF12 FOS ATF7 SP3 REST ZNF623 ZNF592 MBD2 SMARCA4 MAD2L2 DRAXIN FBXO2 MTHFR CLCN6 TNFRSF1B
GH01J011705 Enhancer 0.7 dbSUPER 11.4 -50.7 -50739 1.1 BCOR PTBP1 NFRKB ZMYM3 CEBPG E2F1 ZNF335 POLR2A POLR3A ADNP AGTRAP MTOR FBXO44 FBXO2 C1orf167 LOC102724659 ENSG00000271895 EXOSC10 C1orf127 MAD2L2
GH01J011649 Enhancer 1.2 Ensembl ENCODE 6.1 +5.4 5418 1.5 SMAD1 FEZF1 ZNF2 YY1 CBX5 ZNF213 ZNF143 ZNF263 SP3 REST GC01M011650 TARDBP ENSG00000226849 EXOSC10 UBIAD1 VPS13D SNORA59A FBXO2 ENSG00000284708
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBXO2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBXO2 gene promoter:
  • Nkx2-5
  • ARP-1
  • PPAR-alpha
  • Elk-1
  • Pax-2a
  • Pax-2
  • Pax-3
  • AP-4
  • Max1
  • Olf-1

Genomic Locations for FBXO2 Gene

Genomic Locations for FBXO2 Gene
chr1:11,637,018-11,655,785
(GRCh38/hg38)
Size:
18,768 bases
Orientation:
Minus strand
chr1:11,708,418-11,715,842
(GRCh37/hg19)
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

  • Abcam antibodies for FBXO2
  • Boster Bio Antibodies for FBXO2

No data available for DME Specific Peptides for FBXO2 Gene

Domains & Families for FBXO2 Gene

Gene Families for FBXO2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 amyloid-beta binding IEA --
GO:0004842 ubiquitin-protein transferase activity TAS,EXP --
GO:0005515 protein binding IPI,IEA 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:
  • Fbxo2 Fbxo2<tm1Hlp>
  • Fbxo2 Fbxo2<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXO2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

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 IEA,TAS --
GO:0016020 membrane IEA --
GO:0019005 SCF ubiquitin ligase complex IEA,ISS --
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

Drugs & Compounds for FBXO2 Gene

No Compound Related Data Available

Transcripts for FBXO2 Gene

mRNA/cDNA for FBXO2 Gene

Unigene Clusters for FBXO2 Gene

F-box protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXO2

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 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

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 33
  • 99.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FBXO2 34 33
  • 90.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBXO2 34 33
  • 89.98 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbxo2 33
  • 87.56 (n)
mouse
(Mus musculus)
Mammalia Fbxo2 16 34 33
  • 87.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO2 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXO2 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXO2 34 33
  • 70.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBXO2 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733128 33
  • 58.09 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:175088 34 33
  • 60.12 (n)
ManyToMany
zgc:100832 34
  • 43 (a)
ManyToMany
zgc:173570 34
  • 40 (a)
ManyToMany
si:rp71-1k13.6 34
  • 39 (a)
ManyToMany
zgc:153722 34
  • 39 (a)
ManyToMany
si:dkey-147f3.4 34 34
  • 38 (a)
ManyToMany
fbxo44 34
  • 36 (a)
ManyToMany
zgc:114174 34
  • 34 (a)
ManyToMany
zgc:114081 34
  • 33 (a)
ManyToMany
si:dkey-147f3.8 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FBXO2: view image

Paralogs for FBXO2 Gene

Paralogs for FBXO2 Gene

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

  • FBX2_HUMAN
  • R4GNH2_HUMAN
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 Variation AA Info Type
rs1000975714 -- 11,648,061(-) GGGGGG/GGGGGGG downstream_transcript_variant
rs1001006791 -- 11,648,240(-) C/T downstream_transcript_variant
rs1001074408 -- 11,656,176(-) T/A upstream_transcript_variant
rs1001165716 -- 11,653,494(-) A/T intron_variant
rs1001500822 -- 11,650,522(-) T/C coding_sequence_variant, missense_variant

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)

Additional Variant Information for FBXO2 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD and DISEASES

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

Additional Disease Information for 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 (Current biology : CB 1999) 2 3 4 58
  2. A family of mammalian F-box proteins. (PMID: 10531037) Winston JT … Harper JW (Current biology : CB 1999) 2 3 4 58
  3. Diversity in tissue expression, substrate binding, and SCF complex formation for a lectin family of ubiquitin ligases. (PMID: 18203720) Glenn KA … Paulson HL (The Journal of biological chemistry 2008) 3 22 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for FBXO2 Gene

Sources for FBXO2 Gene

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