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Aliases for FBXW4 Gene

Aliases for FBXW4 Gene

  • F-Box And WD Repeat Domain Containing 4 2 3
  • FBW4 3 4 6
  • F-Box And WD-40 Domain-Containing Protein 4 3 4
  • F-Box And WD-40 Domain Protein 4 2 3
  • Dactylin 3 4
  • SHFM3 3 4
  • FBWD4 3 6
  • DAC 3 6
  • Split Hand/Foot Malformation (Ectrodactyly) Type 3 2
  • F-Box/WD Repeat-Containing Protein 4 3
  • F-Box/WD Repeat Protein 4 3
  • SHSF3 3

External Ids for FBXW4 Gene

Previous HGNC Symbols for FBXW4 Gene

  • SHFM3

Previous GeneCards Identifiers for FBXW4 Gene

  • GC10M103362
  • GC10M103370

Summaries for FBXW4 Gene

Entrez Gene Summary for FBXW4 Gene

  • This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with 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]

GeneCards Summary for FBXW4 Gene

FBXW4 (F-Box And WD Repeat Domain Containing 4) is a Protein Coding gene. Diseases associated with FBXW4 include split-hand/foot malformation 3 and split hand foot malformation. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Protein folding.

UniProtKB/Swiss-Prot for FBXW4 Gene

  • Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling

Gene Wiki entry for FBXW4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXW4 Gene

Genomics for FBXW4 Gene

Regulatory Elements for FBXW4 Gene

Genomic Location for FBXW4 Gene

Start:
101,610,664 bp from pter
End:
101,695,588 bp from pter
Size:
84,925 bases
Orientation:
Minus strand

Genomic View for FBXW4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FBXW4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXW4 Gene

Proteins for FBXW4 Gene

  • Protein details for FBXW4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57775-FBXW4_HUMAN
    Recommended name:
    F-box/WD repeat-containing protein 4
    Protein Accession:
    P57775
    Secondary Accessions:
    • Q5SVS1
    • Q96IM6

    Protein attributes for FBXW4 Gene

    Size:
    412 amino acids
    Molecular mass:
    46337 Da
    Quaternary structure:
    • Part of a SCF (SKP1-cullin-F-box) protein ligase complex.

neXtProt entry for FBXW4 Gene

Proteomics data for FBXW4 Gene at MOPED

Post-translational modifications for FBXW4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FBXW4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for FBXW4 Gene

Domains for FBXW4 Gene

Gene Families for FBXW4 Gene

HGNC:
  • FBXW :F-boxes / WD-40 domains
  • WDR :WD repeat domain containing

Protein Domains for FBXW4 Gene

Suggested Antigen Peptide Sequences for FBXW4 Gene

Graphical View of Domain Structure for InterPro Entry

P57775

UniProtKB/Swiss-Prot:

FBXW4_HUMAN :
  • P57775
Domain:
  • Contains 1 F-box domain.
Similarity:
  • Contains 6 WD repeats.
genes like me logo Genes that share domains with FBXW4: view

Function for FBXW4 Gene

Molecular function for FBXW4 Gene

UniProtKB/Swiss-Prot Function:
Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling

Gene Ontology (GO) - Molecular Function for FBXW4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with FBXW4: view
genes like me logo Genes that share phenotypes with FBXW4: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for FBXW4 Gene

Localization for FBXW4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FBXW4 Gene COMPARTMENTS Subcellular localization image for FBXW4 gene
Compartment Confidence
cytosol 2
nucleus 2
peroxisome 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FBXW4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex NAS 10945468
genes like me logo Genes that share ontologies with FBXW4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FBXW4 Gene

Pathways for FBXW4 Gene

genes like me logo Genes that share pathways with FBXW4: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for FBXW4 Gene

Selected Interacting proteins: P57775-FBXW4_HUMAN for FBXW4 Gene via MINT I2D

Gene Ontology (GO) - Biological Process for FBXW4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002053 positive regulation of mesenchymal cell proliferation IEA --
GO:0006511 ubiquitin-dependent protein catabolic process NAS 10945468
GO:0016055 Wnt signaling pathway IEA --
GO:0030326 embryonic limb morphogenesis NAS 10405324
GO:0042733 embryonic digit morphogenesis IEA --
genes like me logo Genes that share ontologies with FBXW4: view

Transcripts for FBXW4 Gene

Unigene Clusters for FBXW4 Gene

F-box and WD repeat domain containing 4:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FBXW4

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBXW4 Gene

No ASD Table

Relevant External Links for FBXW4 Gene

GeneLoc Exon Structure for
FBXW4
ECgene alternative splicing isoforms for
FBXW4

Expression for FBXW4 Gene

mRNA expression in normal human tissues for FBXW4 Gene

Protein differential expression in normal tissues for FBXW4 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for FBXW4 Gene

SOURCE GeneReport for Unigene cluster for FBXW4 Gene Hs.500822

mRNA Expression by UniProt/SwissProt for FBXW4 Gene

P57775-FBXW4_HUMAN
Tissue specificity: Expressed in brain, kidney, lung and liver
genes like me logo Genes that share expressions with FBXW4: view

Expression partners for FBXW4 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FBXW4 Gene

Orthologs for FBXW4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXW4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FBXW4 35
  • 93.03 (n)
  • 96.43 (a)
FBXW4 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBXW4 35
  • 93.37 (n)
  • 96.43 (a)
FBXW4 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxw4 35
  • 90.05 (n)
  • 93.62 (a)
Fbxw4 16
Fbxw4 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FBXW4 35
  • 94.59 (n)
  • 93.3 (a)
rat
(Rattus norvegicus)
Mammalia Fbxw4 35
  • 90.73 (n)
  • 94.13 (a)
oppossum
(Monodelphis domestica)
Mammalia FBXW4 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXW4 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXW4 35
  • 74.09 (n)
  • 73.32 (a)
FBXW4 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBXW4 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxw4 35
  • 65.36 (n)
  • 66.84 (a)
zebrafish
(Danio rerio)
Actinopterygii dac 35
fbxw4 35
  • 61.97 (n)
  • 59.01 (a)
fbxw4 36
  • 57 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6757 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.224 36
  • 36 (a)
OneToOne
Species with no ortholog for FBXW4:
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 FBXW4 Gene

ENSEMBL:
Gene Tree for FBXW4 (if available)
TreeFam:
Gene Tree for FBXW4 (if available)

Paralogs for FBXW4 Gene

Selected SIMAP similar genes for FBXW4 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for FBXW4 Gene

genes like me logo Genes that share paralogs with FBXW4: view

No data available for Paralogs for FBXW4 Gene

Variants for FBXW4 Gene

Sequence variations from dbSNP and Humsavar for FBXW4 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs11279 -- 101,610,721(+) CAACA(G/T)CCAGC utr-variant-3-prime, nc-transcript-variant
rs14467 -- 101,610,801(+) CAAAA(C/T)CAGGC utr-variant-3-prime, nc-transcript-variant
rs888505 -- 101,671,463(-) AGTTT(A/G)TTTGA intron-variant
rs1035291 -- 101,677,087(-) gtagg(A/C)gagtt intron-variant
rs1468973 -- 101,632,233(-) GAGGG(G/T)TGCGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBXW4 Gene

Variant ID Type Subtype PubMed ID
esv2750847 CNV Gain 17911159
nsv895967 CNV Gain 21882294
esv2740184 CNV Deletion 23290073
esv2663159 CNV Deletion 23128226
esv2672546 CNV Deletion 23128226

Relevant External Links for FBXW4 Gene

HapMap Linkage Disequilibrium report
FBXW4
Human Gene Mutation Database (HGMD)
FBXW4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXW4 Gene

Disorders for FBXW4 Gene

UniProtKB/Swiss-Prot

FBXW4_HUMAN
  • Split-hand/foot malformation 3 (SHFM3) [MIM:246560]: A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. {ECO:0000269 PubMed:12913067}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for FBXW4 Gene

(2) Novoseek inferred disease relationships for FBXW4 Gene

Disease -log(P) Hits PubMed IDs
shfm3 98.8 4
malformation foot 96.8 1
genes like me logo Genes that share disorders with FBXW4: view

No data available for OMIM , Genatlas and External Links for FBXW4 Gene

Publications for FBXW4 Gene

  1. A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24. (PMID: 10405324) Ianakiev P. … Tsipouras P. (Biochem. Biophys. Res. Commun. 1999) 3 4 23
  2. cDNA cloning and expression analysis of new members of the mammalian F-box protein family. (PMID: 10945468) Ilyin G.P. … Guguen-Guillouzo C. (Genomics 2000) 3 4 23
  3. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. (PMID: 12913067) de Mollerat X.J. … Schwartz C.E. (Hum. Mol. Genet. 2003) 3 4 23
  4. 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
  5. Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. (PMID: 7912888) Palmer S.E. … Evans J.P. (Am. J. Hum. Genet. 1994) 2 3

Products for FBXW4 Gene

Sources for FBXW4 Gene

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