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Aliases for FBXW4 Gene

Aliases for FBXW4 Gene

  • F-Box And WD Repeat Domain Containing 4 2 3 5
  • 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
  • FBW4 3 4
  • Split Hand/Foot Malformation (Ectrodactyly) Type 3 2
  • F-Box/WD Repeat Protein 4 3
  • FBWD4 3
  • SHSF3 3
  • DAC 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. Among its related pathways are Chaperonin-mediated protein folding and Transport to the Golgi and subsequent modification.

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

Enhancers for FBXW4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FBXW4 on UCSC Golden Path with GeneCards custom track

Promoters for FBXW4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FBXW4 on UCSC Golden Path with GeneCards custom track

Genomic Location for FBXW4 Gene

101,610,664 bp from pter
101,695,295 bp from pter
84,632 bases
Minus strand

Genomic View for FBXW4 Gene

Genes around FBXW4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXW4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    F-box/WD repeat-containing protein 4
    Protein Accession:
    Secondary Accessions:
    • Q5SVS1
    • Q96IM6

    Protein attributes for FBXW4 Gene

    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:
REFSEQ proteins:

No data available for DME Specific Peptides for FBXW4 Gene

Domains & Families for FBXW4 Gene

Protein Domains for FBXW4 Gene

Suggested Antigen Peptide Sequences for FBXW4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 F-box domain.
  • Contains 6 WD repeats.
  • Contains 1 F-box domain.
  • 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.
genes like me logo Genes that share phenotypes with FBXW4: view

Human Phenotype Ontology for FBXW4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FBXW4 Gene

Localization for FBXW4 Gene

Subcellular locations from

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FBXW4 Gene

Pathways & Interactions for FBXW4 Gene

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

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:0016055 Wnt signaling pathway IEA --
GO:0030326 embryonic limb morphogenesis NAS 10405324
GO:0042733 embryonic digit morphogenesis IEA --
GO:0060173 limb development IEA --
genes like me logo Genes that share ontologies with FBXW4: view

No data available for SIGNOR curated interactions for FBXW4 Gene

Drugs & Compounds for FBXW4 Gene

No Compound Related Data Available

Transcripts for FBXW4 Gene

Unigene Clusters for FBXW4 Gene

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

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

No ASD Table

Relevant External Links for FBXW4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FBXW4 Gene

mRNA expression in normal human tissues for FBXW4 Gene

Protein differential expression in normal tissues from HIPED for FBXW4 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Tissue specificity: Expressed in brain, kidney, lung and liver.
genes like me logo Genes that share expression patterns with FBXW4: view

Protein tissue co-expression partners for FBXW4 Gene

Primer 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
(Bos Taurus)
Mammalia FBXW4 35
  • 93.03 (n)
  • 96.43 (a)
FBXW4 36
  • 95 (a)
(Canis familiaris)
Mammalia FBXW4 35
  • 93.37 (n)
  • 96.43 (a)
FBXW4 36
  • 69 (a)
(Mus musculus)
Mammalia Fbxw4 35
  • 90.05 (n)
  • 93.62 (a)
Fbxw4 16
Fbxw4 36
  • 91 (a)
(Pan troglodytes)
Mammalia FBXW4 35
  • 94.59 (n)
  • 93.3 (a)
(Rattus norvegicus)
Mammalia Fbxw4 35
  • 90.73 (n)
  • 94.13 (a)
(Monodelphis domestica)
Mammalia FBXW4 36
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia FBXW4 36
  • 73 (a)
(Gallus gallus)
Aves FBXW4 35
  • 74.09 (n)
  • 73.32 (a)
FBXW4 36
  • 68 (a)
(Anolis carolinensis)
Reptilia FBXW4 36
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxw4 35
  • 65.36 (n)
  • 66.84 (a)
(Danio rerio)
Actinopterygii dac 35
fbxw4 35
  • 61.97 (n)
  • 59.01 (a)
fbxw4 36
  • 57 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6757 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.224 36
  • 36 (a)
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

Gene Tree for FBXW4 (if available)
Gene Tree for FBXW4 (if available)

Paralogs for FBXW4 Gene

(2) SIMAP similar genes for FBXW4 Gene using alignment to 4 proteins: 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
rs1468973 -- 101,632,233(-) GAGGG(G/T)TGCGT intron-variant
rs1544720 -- 101,659,496(-) CCCAC(C/T)GCTGG intron-variant
rs1549065 -- 101,653,151(+) CCTGA(C/T)GTGCA intron-variant
rs11279 -- 101,610,721(+) CAACA(G/T)CCAGC nc-transcript-variant, utr-variant-3-prime
rs14467 -- 101,610,801(+) CAAAA(C/T)CAGGC nc-transcript-variant, utr-variant-3-prime

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

Variation tolerance for FBXW4 Gene

Residual Variation Intolerance Score: 17.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBXW4 Gene

Human Gene Mutation Database (HGMD)

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

Disorders for FBXW4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for FBXW4 Gene - From: GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
split-hand/foot malformation 3
  • shfm3
split hand
split hand-split foot malformation
  • split hand foot malformation
split foot
split hand foot malformation
  • ectrodactyly
- elite association - COSMIC cancer census association via MalaCards
Search FBXW4 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for FBXW4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FBXW4: view

No data available for Genatlas 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 67
  2. 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 23
  3. 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 23
  4. A split hand-split foot (SHFM3) gene is located at 10q24-->25. (PMID: 8723077) Gurrieri F. … Tsipouras P. (Am. J. Med. Genet. 1996) 2 3
  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