Human Gene FBXW2 (uc004bkm.1) Description and Page Index
  Description: Homo sapiens F-box and WD repeat domain containing 2 (FBXW2), mRNA.
RefSeq Summary (NM_012164): F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.68383.1, SRR1660809.50075.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2154529 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000608872.6/ ENSP00000476369.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr9:123,519,254-123,555,740 Size: 36,487 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr9:123,526,837-123,550,536 Size: 23,700 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:123,519,254-123,555,740)mRNA (may differ from genome)Protein (454 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: FBXW2_HUMAN
DESCRIPTION: RecName: Full=F-box/WD repeat-containing protein 2; AltName: Full=F-box and WD-40 domain-containing protein 2; AltName: Full=Protein MD6;
FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex.
SUBUNIT: Directly interacts with SKP1 and CUL1.
INTERACTION: P63208:SKP1; NbExp=2; IntAct=EBI-914727, EBI-307486;
SIMILARITY: Contains 1 F-box domain.
SIMILARITY: Contains 4 WD repeats.
SEQUENCE CAUTION: Sequence=AAF04465.1; Type=Frameshift; Positions=420; Sequence=AAF13226.1; Type=Frameshift; Positions=420; Sequence=AAP97276.1; Type=Frameshift; Positions=420; Sequence=AAP97280.1; Type=Frameshift; Positions=420;

-  MalaCards Disease Associations
  MalaCards Gene Search: FBXW2
Diseases sorted by gene-association score: intestinal botulism (5), wound botulism (4), infant botulism (2), miller-dieker lissencephaly syndrome (2)

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.79 RPKM in Spleen
Total median expression: 386.31 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -124.92238-0.525 Picture PostScript Text
3' UTR -2232.777583-0.294 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
IPR001810 - F-box_dom_cyclin-like
IPR020472 - G-protein_beta_WD-40_rep
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF00646 - F-box domain
PF12937 - F-box-like

SCOP Domains:
81383 - F-box domain
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q9UKT8
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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
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

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

Biological Process:
GO:0000209 protein polyubiquitination
GO:0006464 cellular protein modification process
GO:0006508 proteolysis
GO:0043687 post-translational protein modification

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK025767 - Homo sapiens cDNA: FLJ22114 fis, clone HEP18441.
U29107 - Human lipoma Li-192 ectopic sequence from HMGI-C fusion mRNA, 3' sequence, clone pCH147.
BX537625 - Homo sapiens mRNA; cDNA DKFZp686P08188 (from clone DKFZp686P08188).
AK054580 - Homo sapiens cDNA FLJ30018 fis, clone 3NB692000529.
BC024204 - Homo sapiens cDNA clone IMAGE:3531431, partial cds.
AK095377 - Homo sapiens cDNA FLJ38058 fis, clone CTONG2014898.
JD414736 - Sequence 395760 from Patent EP1572962.
JD311585 - Sequence 292609 from Patent EP1572962.
JD069715 - Sequence 50739 from Patent EP1572962.
JD094079 - Sequence 75103 from Patent EP1572962.
JD379597 - Sequence 360621 from Patent EP1572962.
JD094078 - Sequence 75102 from Patent EP1572962.
JD379596 - Sequence 360620 from Patent EP1572962.
JD120510 - Sequence 101534 from Patent EP1572962.
JD120511 - Sequence 101535 from Patent EP1572962.
JD285541 - Sequence 266565 from Patent EP1572962.
JD505641 - Sequence 486665 from Patent EP1572962.
JD542301 - Sequence 523325 from Patent EP1572962.
JD541312 - Sequence 522336 from Patent EP1572962.
AF176698 - Homo sapiens F-box protein FBW2 mRNA, complete cds.
AF145024 - Homo sapiens MD6 protein mRNA, complete cds.
AF193594 - Homo sapiens MD6b mRNA, complete cds.
BC000239 - Homo sapiens cDNA clone IMAGE:3352090, containing frame-shift errors.
BC018738 - Homo sapiens F-box and WD repeat domain containing 2, mRNA (cDNA clone MGC:31869 IMAGE:4554961), complete cds.
AK300066 - Homo sapiens cDNA FLJ53609 complete cds, highly similar to F-box/WD repeat protein 2.
AK022484 - Homo sapiens cDNA FLJ12422 fis, clone MAMMA1003057, highly similar to MD6 PROTEIN.
AK091860 - Homo sapiens cDNA FLJ34541 fis, clone HLUNG2008637, highly similar to F-box/WD repeat protein 2.
JD486251 - Sequence 467275 from Patent EP1572962.
JD485958 - Sequence 466982 from Patent EP1572962.
BC110334 - Homo sapiens F-box and WD repeat domain containing 2, mRNA (cDNA clone MGC:117371 IMAGE:5741924), complete cds.
JD069162 - Sequence 50186 from Patent EP1572962.
JD437706 - Sequence 418730 from Patent EP1572962.
KJ893535 - Synthetic construct Homo sapiens clone ccsbBroadEn_02929 FBXW2 gene, encodes complete protein.
DQ892345 - Synthetic construct clone IMAGE:100004975; FLH186969.01X; RZPDo839C0572D F-box and WD-40 domain protein 2 (FBXW2) gene, encodes complete protein.
DQ895550 - Synthetic construct Homo sapiens clone IMAGE:100010010; FLH186965.01L; RZPDo839C0562D F-box and WD-40 domain protein 2 (FBXW2) gene, encodes complete protein.
JD174631 - Sequence 155655 from Patent EP1572962.
AF129531 - Homo sapiens chromosome 9 F-box protein Fbw2 (FBW2) mRNA, partial cds.
AK314385 - Homo sapiens cDNA, FLJ95158, Homo sapiens F-box and WD-40 domain protein 2 (FBXW2), mRNA.
CU676302 - Synthetic construct Homo sapiens gateway clone IMAGE:100019481 5' read FBXW2 mRNA.
JD503742 - Sequence 484766 from Patent EP1572962.
JD125367 - Sequence 106391 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UKT8 (Reactome details) participates in the following event(s):

R-HSA-390470 Association of CCT/TriC with other substrates during biosynthesis (unknown chaperone)
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-390471 Association of TriC/CCT with target proteins during biosynthesis
R-HSA-390466 Chaperonin-mediated protein folding
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-391251 Protein folding
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: B3KRL8, FBW2, FBXW2_HUMAN, FWD2, NM_012164, NP_036296, Q4VXH2, Q7Z4V6, Q8WV51, Q9HA09, Q9UKA3, Q9UKT8
UCSC ID: uc004bkm.1
RefSeq Accession: NM_012164
Protein: Q9UKT8 (aka FBXW2_HUMAN or FBW2_HUMAN)
CCDS: CCDS43872.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_012164.3
exon count: 8CDS single in 3' UTR: no RNA size: 9186
ORF size: 1365CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2699.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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