FBXW4 Gene
protein-coding GIFtS: 52
GCID: GC10M103370
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F-box and WD repeat domain containing 4(Previous names: split hand/foot malformation (ectrodactyly) type 3, F-box...)
(Previous symbol: SHFM3)
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Aliases
for FBXW4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| F-Box And WD Repeat Domain Containing 41 2 | | FBWD42 5 | | SHFM31 2 3 | | Fbw41 | | FBW42 3 5 | | Split Hand/Foot Malformation (Ectrodactyly) Type 31 | | Dactylin3 | | SHSF32 | | F-Box And WD-40 Domain Protein 41 2 | | F-Box/WD Repeat Protein 42 | | F-Box And WD-40 Domain-Containing Protein 42 3 | | F-Box/WD Repeat-Containing Protein 42 | | DAC2 5 | | Dactylin3 |
Export aliases for FBXW4 gene to outside databasesPrevious GC identifer: GC10M103362 |
Summaries
for FBXW4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for FBXW4:
This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought tobe responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse generesults in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. Thisphenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous conditionwith a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region wherethis gene is located, and complex rearrangements involving duplications of this gene and others have been associatedwith the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: FBXW4_HUMAN, P57775Function: Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination anddegradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate inWnt signaling
Gene Wiki entry for FBXW4
|
Genomic Views
for FBXW4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_030059.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the FBXW4 gene promoter:
FAC1 Cart-1 Lmo2 CUTL1 Nkx2-5 Pax-4a HNF-3beta GATA-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for FBXW4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXW4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q24 Ensembl cytogenetic band: 10q24.32 HGNC cytogenetic band: 10q24FBXW4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10M103370: view genomic region
(about GC identifiers)
Start:
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103,370,421 bp from pter |
End:
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103,455,110 bp from pter |
Size:
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84,690 bases |
Orientation:
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minus strand |
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Proteins
for FBXW4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: FBXW4_HUMAN, P57775 (See
protein sequence)Recommended Name: F-box/WD repeat-containing protein 4 Size: 412 amino acids; 46337 Da
Subunit: Part of a SCF (SKP1-cullin-F-box) protein ligase complex (By similarity)
Secondary accessions: Q5SVS1 Q96IM6Explore the universe of human proteins at neXtProt for FBXW4: NX_P57775
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P57775
FBXW4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_071322.1
ENSEMBL proteins: ENSP00000359149 ENSP00000405251 ENSP00000412348 ENSP00000373698 Reactome Protein details: P57775
Human Recombinant Protein Products for FBXW4:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table
FBXW4 for ontologies About GeneDecksing
FBXW4 Antibody Products:
Assay Products for FBXW4: |
Protein
Domains /
Families
for FBXW4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FBXW4 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P57775ProtoNet protein and cluster: P57775 UniProtKB/Swiss-Prot: FBXW4_HUMAN, P57775Similarity: Contains 1 F-box domainSimilarity: Contains 4 WD repeats |
Function
for FBXW4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: FBXW4_HUMAN, P57775Function: Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination anddegradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate inWnt signaling Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
FBXW4 for ontologies About GeneDecksing
Phenotypes:
4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Fbxw4):
FBXW4 for phenotypes About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FBXW4 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FBXW4
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: FBXW4 (NM_022039) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FBXW4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBXW4 |
|
Pathways & Interactions
for FBXW4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Chaperonin-mediated protein folding | | | 2 | Asparagine N-linked glycosylation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
4 
Reactome Pathways for FBXW4
FBXW4 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FBXW4
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
5/8 Interacting proteins for FBXW4 (P577752, 3 ENSP000003736984) via UniProtKB, MINT, STRING, and/or I2D (see all 8)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
FBXW4 for ontologies About GeneDecksing
|
Drugs & Compounds
for FBXW4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for FBXW4
Search CenterWatch for drugs/clinical trials and news about FBXW4
|
Transcripts
for FBXW4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for FBXW4 gene: NM_022039.3 Unigene Cluster for FBXW4: F-box and WD repeat domain containing 4 Hs.500822 [show with all ESTs]Unigene Representative Sequence: BX5382617 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000331272 ENST00000470093 ENST00000482428 ENST00000457105 ENST00000431477
ENST00000489578 ENST00000389046(uc001kto.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FBXW4 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FBXW4
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: FBXW4 (NM_022039) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FBXW4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBXW4 |
Additional cDNA sequence: AF281859.1 AK123173.1 AK129650.1 AK314735.1 BC007380.2 BC063415.1 BC128209.1 BX538261.1 15 DOTS entries: DT.426260 DT.121300788 DT.101961473 DT.100763640 DT.40301435 DT.95184998 DT.92436519 DT.121300755 DT.121300766 DT.121300787 DT.91735339 DT.97789840 DT.100816346 DT.95285297 DT.95351142 24/254 AceView cDNA sequences (see all 254): BU195407 BM739426 AI580103 AA321941 BM825146 AW169846 BU197057 BQ880726 BM760967 BU557069 AF281859 BQ045068 BC063415 AW168156 CD514786 AA463476 AA749118 BU075706 BU074274 BF842483 BU735140 BM756421 BX104671 AA478960
GeneLoc Exon Structure
|
Expression
for FBXW4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| FBXW4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTACAATTTT
About this image
See FBXW4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FBXW4
SOURCE GeneReport for Unigene cluster: Hs.500822
UniProtKB/Swiss-Prot: FBXW4_HUMAN, P57775Tissue specificity: Expressed in brain, kidney, lung and liver
SABiosciences Expression via Pathway-Focused PCR Arrays including FBXW4:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FBXW4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FBXW4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FBXW4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FBXW4 |
Orthologs
for FBXW4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for FBXW4 gene from 5/17 species (see all 17) About this table
ENSEMBL Gene Tree for FBXW4 (if available)
TreeFam Gene Tree for FBXW4 (if available) |
Paralogs
for FBXW4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for FBXW4 gene
2 SIMAP similar genes for FBXW4 using alignment to 4 protein entries: FBXW4_HUMAN (see all proteins):BCR FLJ00077
FBXW4 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for FBXW4
PGOHUM00000246522
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Genomic Variants
for FBXW4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for FBXW4 (103370421 - 103455110 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for FBXW4
1 CNV: 8666
4 Indels: 85451 75371 75369 75370
Human Gene Mutation Database (HGMD): FBXW4
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FBXW4 |
|
Disorders
/ Diseases
for FBXW4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
FBXW4 for disorders About GeneDecksing
OMIM gene information: 608071
OMIM disorders: --
UniProtKB/Swiss-Prot: FBXW4_HUMAN, P57775
Defects in FBXW4 are a cause of split-hand/foot malformation type 3 (SHFM3) [MIM:246560]. SHFM3 is anautosomal dominant disorder characterized by hypoplasia/aplasia of the central digits with fusion of the remainingdigits
4  diseases for FBXW4: About MalaCardssplit hand/foot malformation syndactyly ectrodactyly neuroblastoma
1 disease from the University of Copenhagen DISEASES database for FBXW4:Syndactyly 2 Novoseek disease relationships for FBXW4 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| shfm3 |
98.8 |
4 |
10405324 (2), 18392654 (1), 18067070 (1) |
| malformation foot |
96.8 |
1 |
10405324 (1) |
Export disorders for FBXW4 gene to outside databases
|
Publications
for FBXW4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for FBXW4 gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with FBXW4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24. (PubMed id 10405324)1, 2, 9 Ianakiev P.... Tsipouras P. (1999)
- A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. (PubMed id 12913067)1, 2, 9 de Mollerat X.J.... Schwartz C.E. (2003)
- cDNA cloning and expression analysis of new members of the mammalian F-box protein family. (PubMed id 10945468)1, 2, 9 Ilyin G.P.... Guguen-Guillouzo C. (2000)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
- A split hand-split foot (SHFM3) gene is located at 10q24-->25. (PubMed id 8723077)1, 3 Gurrieri F....Tsipouras P. (1996)
- Evidence for locus heterogeneity in human autosomal d ominant split hand/split foot malformation. (PubMed id 7912888)1, 3 Palmer S.E....Evans J.P. (1994)
- Fbxw7a- and GSK3-mediated degradation of p100 is a pro -survival mechanism in multiple myeloma. (PubMed id 22388891)1 Busino L....Pagano M. (2012)
- Interactome mapping suggests new mechanistic details u nderlying Alzheimer's disease. (PubMed id 21163940)1 Soler-Lopez M....Aloy P. (2011)
- WD40 repeat propellers define a ubiquitin-binding dom ain that regulates turnover of F box proteins. (PubMed id 21070969)1 Pashkova N....Piper R.C. (2010)
|
External Searches for FBXW4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing FBXW4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing FBXW4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FBXW4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for FBXW4 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBXW4 |
|
| | |
About This Section
| Patent Information for FBXW4 gene:
Search GeneIP for patents involving FBXW4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for FBXW4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FBXW4 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FBXW4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXW4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FBXW4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FBXW4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FBXW4 |
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