Human Gene FBXO2 (ENST00000354287.5) from GENCODE V44
  Description: Homo sapiens F-box protein 2 (FBXO2), mRNA. (from RefSeq NM_012168)
RefSeq Summary (NM_012168): 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].
Gencode Transcript: ENST00000354287.5
Gencode Gene: ENSG00000116661.11
Transcript (Including UTRs)
   Position: hg38 chr1:11,648,387-11,654,429 Size: 6,043 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr1:11,648,694-11,654,340 Size: 5,647 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:11,648,387-11,654,429)mRNA (may differ from genome)Protein (296 aa)
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HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FBX2_HUMAN
DESCRIPTION: RecName: Full=F-box only protein 2;
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).
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: 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).
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Microsome membrane; Peripheral membrane protein; Cytoplasmic side (By similarity).
SIMILARITY: Contains 1 F-box domain.
SIMILARITY: Contains 1 FBA (F-box associated) domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FBXO2
Diseases sorted by gene-association score: benign paroxysmal positional nystagmus (16)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 168.05 RPKM in Brain - Amygdala
Total median expression: 2000.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -30.2089-0.339 Picture PostScript Text
3' UTR -95.80307-0.312 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007397 - F-box-assoc_dom
IPR001810 - F-box_dom_cyclin-like
IPR008979 - Galactose-bd-like

Pfam Domains:
PF04300 - F-box associated region

ModBase Predicted Comparative 3D Structure on Q9UK22
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001540 beta-amyloid binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0030246 carbohydrate binding

Biological Process:
GO:0000209 protein polyubiquitination
GO:0006464 cellular protein modification process
GO:0006508 proteolysis
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0006516 glycoprotein catabolic process
GO:0008285 negative regulation of cell proliferation
GO:0016567 protein ubiquitination
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
GO:0031396 regulation of protein ubiquitination
GO:0043687 post-translational protein modification

Cellular Component:
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0016020 membrane
GO:0019005 SCF ubiquitin ligase complex
GO:0031090 organelle membrane
GO:0043197 dendritic spine
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  BC025233 - Homo sapiens F-box protein 2, mRNA (cDNA clone MGC:39079 IMAGE:5090925), complete cds.
BC096747 - Homo sapiens F-box protein 2, mRNA (cDNA clone MGC:104581 IMAGE:5259298), complete cds.
BC014957 - Homo sapiens cDNA clone IMAGE:4899604, containing frame-shift errors.
AF187318 - Homo sapiens F-box protein Fbx2 mRNA, partial cds.
JD508547 - Sequence 489571 from Patent EP1572962.
JD078708 - Sequence 59732 from Patent EP1572962.
JD415900 - Sequence 396924 from Patent EP1572962.
AF174594 - Homo sapiens F-box protein Fbx2 (FBX2) mRNA, partial cds.
CR542110 - Homo sapiens full open reading frame cDNA clone RZPDo834F0737D for gene FBXO2, F-box only protein 2; complete cds, incl. stopcodon.
AK313019 - Homo sapiens cDNA, FLJ93487, Homo sapiens F-box only protein 2 (FBXO2), mRNA.
KJ898609 - Synthetic construct Homo sapiens clone ccsbBroadEn_08003 FBXO2 gene, encodes complete protein.
CU692940 - Synthetic construct Homo sapiens gateway clone IMAGE:100021939 5' read FBXO2 mRNA.
DQ892848 - Synthetic construct clone IMAGE:100005478; FLH190276.01X; RZPDo839G0675D F-box protein 2 (FBXO2) gene, encodes complete protein.
DQ892849 - Synthetic construct Homo sapiens clone IMAGE:100005479; FLH263562.01X; RZPDo839G0775D F-box protein 2 (FBXO2) gene, encodes complete protein.
DQ896095 - Synthetic construct Homo sapiens clone IMAGE:100010555; FLH190272.01L; RZPDo839G0665D F-box protein 2 (FBXO2) gene, encodes complete protein.
AB463629 - Synthetic construct DNA, clone: pF1KB6358, Homo sapiens FBXO2 gene for F-box protein 2, without stop codon, in Flexi system.
AK308531 - Homo sapiens cDNA, FLJ98572.
JD024135 - Sequence 5159 from Patent EP1572962.
JD031549 - Sequence 12573 from Patent EP1572962.
BC127894 - Homo sapiens cDNA clone IMAGE:40131544, with apparent retained intron.
JD022758 - Sequence 3782 from Patent EP1572962.
JD021586 - Sequence 2610 from Patent EP1572962.
JD021893 - Sequence 2917 from Patent EP1572962.
JD027707 - Sequence 8731 from Patent EP1572962.
JD027700 - Sequence 8724 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04120 - Ubiquitin mediated proteolysis

BioCarta from NCI Cancer Genome Anatomy Project
h_eradPathway - ER¿associated degradation (ERAD) Pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9UK22 (Reactome details) participates in the following event(s):

R-HSA-8952620 NEDD8:AcM-UBE2M binds CRL1 E3 ubiquitin ligase complex
R-HSA-8956200 MyrG-DCUN1D3 binds CRL1 E3 ubiquitin ligase complex
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-8955241 CAND1 binds cytosolic CRL E3 ubiquitin ligases
R-HSA-8952618 AcM-UBE2M transfers NEDD8 to CRL1 E3 ubiquitin ligase complex
R-HSA-8955289 COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-8956040 COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-597592 Post-translational protein modification
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-392499 Metabolism of proteins
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B2R7K7, ENST00000354287.1, ENST00000354287.2, ENST00000354287.3, ENST00000354287.4, FBX2, FBX2_HUMAN, NM_012168, Q5TGY0, Q6FGJ7, Q8TB29, Q9UK22, Q9UKC6, uc001asj.1, uc001asj.2, uc001asj.3, uc001asj.4, uc001asj.5
UCSC ID: ENST00000354287.5
RefSeq Accession: NM_012168
Protein: Q9UK22 (aka FBX2_HUMAN)
CCDS: CCDS130.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.