Aliases for FBXO2 Gene
Aliases for FBXO2 Gene
External Ids for FBXO2 Gene
- HGNC: 13581
- Entrez Gene: 26232
- Ensembl: ENSG00000116661
- OMIM: 607112
- UniProtKB: Q9UK22
Previous HGNC Symbols for FBXO2 Gene
- OCP1
Previous GeneCards Identifiers for FBXO2 Gene
- GC01M011669
- GC01M011552
- GC01M011317
- GC01M011417
- GC01M011637
- GC01M010862
Summaries 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).
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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBXO2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FBXO2 gene promoter:
Regulatory Element Products
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:
-
- 1p36.22 by Ensembl
- 1p36.22 by Entrez Gene
- 1p36.22 by HGNC
FBXO2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for FBXO2 Gene
Post-translational modifications for FBXO2 Gene
Other Protein References for FBXO2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for FBXO2
-
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- antibodies-online Antibodies for FBXO2: See all 53
- GeneTex FBXO2 antibody for FBXO2
-
Santa Cruz Biotechnology (SCBT) Antibodies for FBXO2
Protein Products
-
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- ProSpec Recombinant Proteins for FBXO2
- antibodies-online Proteins for FBXO2: See all 7
- Search antibodies-online for peptides
- Search GeneTex for Proteins for FBXO2
Assay Products
- antibodies-online Kits for FBXO2: See all 39
No data available for DME Specific Peptides for FBXO2 Gene
Domains & Families for FBXO2 Gene
Gene Families for FBXO2 Gene
- HGNC:
Protein Domains for FBXO2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBXO2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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).
| 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 | -- |
Phenotypes for FBXO2 Gene
- MGI mutant phenotypes for FBXO2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for FBXO2:
Animal Model Products
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-
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CRISPR Products
-
OriGene CRISPR knockouts for FBXO2
-
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miRNA for FBXO2 Gene
- miRTarBase miRNAs that target FBXO2
-
- hsa-mir-6833-3p (MIRT663434)
- hsa-mir-4768-5p (MIRT663435)
- hsa-mir-6873-3p (MIRT663436)
- hsa-mir-6867-3p (MIRT663437)
- hsa-mir-5189-3p (MIRT663438)
- hsa-mir-3934-3p (MIRT663439)
- hsa-mir-942-5p (MIRT663440)
- hsa-mir-6817-3p (MIRT663441)
- hsa-mir-767-3p (MIRT663442)
- hsa-mir-7110-3p (MIRT663443)
- hsa-mir-6845-3p (MIRT663444)
- hsa-mir-4685-3p (MIRT663445)
- hsa-mir-4287 (MIRT663446)
- hsa-mir-7113-3p (MIRT663447)
- hsa-mir-4469 (MIRT663448)
- hsa-mir-4518 (MIRT663449)
- hsa-mir-1266-5p (MIRT663450)
- hsa-mir-6752-3p (MIRT663451)
- hsa-mir-6798-5p (MIRT663452)
- hsa-mir-3065-5p (MIRT663453)
- hsa-mir-548o-3p (MIRT663454)
- hsa-mir-5582-3p (MIRT663455)
- hsa-mir-1323 (MIRT663456)
miRNA Products
- Search ViGene Biosciences for FBXO2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FBXO2
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Cell Line Products
-
Horizon Cell Lines for FBXO2
-
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-
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-
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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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| endoplasmic reticulum | 4 |
| nucleus | 3 |
| 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 | -- |
Pathways & Interactions for FBXO2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Protein processing in endoplasmic reticulum | ||
| 3 | Ubiquitin mediated proteolysis | ||
| 4 | Innate Immune System |
.61
|
|
Pathways by source for FBXO2 Gene
4 Reactome pathways for FBXO2 Gene
2 KEGG pathways for FBXO2 Gene
UniProtKB/Swiss-Prot Q9UK22-FBX2_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for FBXO2 Gene
Selected Interacting proteins:
ENSP00000346240
Q9UK22-FBX2_HUMAN
for FBXO2 Gene via
STRING
IID
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for FBXO2 Gene
Transcripts for FBXO2 Gene
mRNA/cDNA for FBXO2 Gene
- (1) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (92) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for FBXO2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBXO2
- GenScript: Design CRISPR guide RNA sequences for FBXO2
miRNA Products
- Search ViGene Biosciences for FBXO2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FBXO2
- Browse OriGene Inhibitory RNA Products For FBXO2
-
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Clone Products
-
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Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||
| SP4: |
Expression for FBXO2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Protoplasmic Astrocyte Cells Neocortex
-
Glial Cells
- Protoplasmic Astrocyte Cells Neocortex
-
Spinal Cord (Nervous System)
mRNA differential expression in normal tissues according to GTEx for FBXO2 Gene
This gene is overexpressed in Brain - Amygdala (x4.9).
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:
FBXO2SOURCE GeneReport for Unigene cluster for FBXO2 Gene:
Hs.132753Evidence on tissue expression from TISSUES for FBXO2 Gene
- Nervous system(4.7)
- Pancreas(4.2)
Primer Products
-
OriGene qPCR primer pairs and template standards for FBXO2
-
OriGene qPCR primer pairs for FBXO2
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBXO2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FBXO2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FBXO2 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fbxo2 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Fbxo2 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBXO2 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | FBXO2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FBXO2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FBXO2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC101733128 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:175088 34 35 |
|
||
| zgc:100832 35 |
|
ManyToMany | |||
| zgc:173570 35 |
|
ManyToMany | |||
| si:rp71-1k13.6 35 |
|
ManyToMany | |||
| zgc:153722 35 |
|
ManyToMany | |||
| fbxo44 35 |
|
ManyToMany | |||
| zgc:114174 35 |
|
ManyToMany | |||
| zgc:114081 35 |
|
ManyToMany | |||
| si:dkey-147f3.4 35 35 |
|
ManyToMany | |||
| si:dkey-147f3.8 35 |
|
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)
Paralogs for FBXO2 Gene
Variants 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO2 Gene
Disorders for FBXO2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| benign paroxysmal positional nystagmus |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for FBXO2 Gene
Publications for FBXO2 Gene
- Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C. … Pagano M. (Curr. Biol. 1999) 2 3 4 64
- A family of mammalian F-box proteins. (PMID: 10531037) Winston J.T. … Harper J.W. (Curr. Biol. 1999) 2 3 4 64
- 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
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
- 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
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- antibodies-online Antibodies for FBXO2: See all 53
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FBXO2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
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