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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-Containing Protein 4 3
  • 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 Class I MHC mediated antigen processing and presentation.

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

Additional gene information for FBXW4 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H101716 0.6 ENCODE 11.6 -21.7 -21684 0.2 ZNF318 ZNF316 GATA3 RFX1 MAFG FOS CUX1 NFE2 EMSY FBXW4 POLL DPCD ENSG00000224817 LOC105378458
GH10H101725 0.4 ENCODE 11.3 -30.8 -30843 0.6 ZNF121 FGF8 FBXW4 POLL DPCD HPS6 ENSG00000224817 LOC105378458
GH10H101364 1.4 FANTOM5 ENCODE 1.6 +330.6 330602 0.9 MLX ARNT ZFP64 ARID4B DMAP1 ETS1 SLC30A9 CBX5 PAF1 SP5 PPRC1 HPS6 LDB1 GBF1 MRPL43 BTRC FBXW4 GC10M101365 RNU2-59P
GH10H101668 0.2 ENCODE 11.1 +26.7 26695 0.7 FBXW4 FGF8 RNU6-1165P POLL DPCD
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000032640 795 1801 HDGF ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF143 SP3 SP5

Genomic Locations for FBXW4 Gene

Genomic Locations for FBXW4 Gene
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

Post-translational modifications for FBXW4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FBXW4 Gene

No data available for DME Specific Peptides for FBXW4 Gene

Domains & Families for FBXW4 Gene

Gene Families for FBXW4 Gene

Protein Domains for FBXW4 Gene

Suggested Antigen Peptide Sequences for FBXW4 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for FBXW4 Gene

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:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 22632967
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FBXW4 Gene

Localization for FBXW4 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBXW4 gene
Compartment Confidence
cytosol 5
peroxisome 2
nucleus 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBXW4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex NAS 10945468
GO:0005829 cytosol TAS --
GO:0019005 SCF ubiquitin ligase complex IBA --
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 & Interactions for FBXW4 Gene

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

Interacting Proteins for FBXW4 Gene

Gene Ontology (GO) - Biological Process for FBXW4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0002053 positive regulation of mesenchymal cell proliferation IEA --
GO:0006511 ubiquitin-dependent protein catabolic process NAS 10945468
GO:0007275 multicellular organism development IEA --
GO:0016055 Wnt signaling pathway 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FBXW4 Gene

Protein tissue co-expression partners for FBXW4 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBXW4 Gene:


SOURCE GeneReport for Unigene cluster for FBXW4 Gene:


mRNA Expression by UniProt/SwissProt for FBXW4 Gene:

Tissue specificity: Expressed in brain, kidney, lung and liver.

Evidence on tissue expression from TISSUES for FBXW4 Gene

  • Pancreas(4.4)
  • Nervous system(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXW4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • outer ear
  • skull
  • kidney
  • testicle
  • ureter
  • urinary bladder
  • ankle
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with FBXW4: view

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
(Pan troglodytes)
Mammalia FBXW4 33
  • 94.59 (n)
(Canis familiaris)
Mammalia FBXW4 33 34
  • 93.37 (n)
(Bos Taurus)
Mammalia FBXW4 33 34
  • 93.03 (n)
(Rattus norvegicus)
Mammalia Fbxw4 33
  • 90.73 (n)
(Mus musculus)
Mammalia Fbxw4 33 16 34
  • 90.05 (n)
(Ornithorhynchus anatinus)
Mammalia FBXW4 34
  • 73 (a)
(Monodelphis domestica)
Mammalia FBXW4 34
  • 71 (a)
(Gallus gallus)
Aves FBXW4 33 34
  • 74.09 (n)
(Anolis carolinensis)
Reptilia FBXW4 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxw4 33
  • 65.36 (n)
(Danio rerio)
Actinopterygii fbxw4 33 34
  • 61.97 (n)
dac 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6757 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.224 34
  • 36 (a)
Species where no ortholog for FBXW4 was found in the sources mined by GeneCards:
  • 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
rs111600818 Likely benign 101,694,634(+) CGCCG(C/G)CGCCA intron-variant, nc-transcript-variant, reference, missense
rs117664315 Likely benign 101,694,666(+) TGTCG(A/G/T)CCCAA intron-variant, nc-transcript-variant, utr-variant-5-prime
rs35614606 Likely benign 101,612,369(-) ACCTA(C/T)GTTCG nc-transcript-variant, reference, synonymous-codon
rs61382490 Likely benign 101,694,645(+) TGGCC(A/T)CCCCT intron-variant, nc-transcript-variant, utr-variant-5-prime
rs61761937 Likely benign 101,694,572(+) CCCGC(C/G)GCCGG intron-variant, nc-transcript-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv975802 CNV duplication 23825009
nsv1053934 CNV gain 25217958
esv3624387 CNV loss 21293372
esv3624386 CNV loss 21293372
esv3624382 CNV gain 21293372
esv3546757 CNV deletion 23714750
esv3546756 CNV deletion 23714750
esv2750847 CNV gain 17911159
esv2740184 CNV deletion 23290073
esv2672546 CNV deletion 23128226
esv2663159 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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for FBXW4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
split-hand/foot malformation 3
  • split hand-foot malformation 3
split hand
  • ectrodactyly of hand
split hand-foot malformation
  • lobster-claw deformity
split foot
split hand-split foot malformation
  • lobster-claw deformity
- 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 genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. (PMID: 12913067) de Mollerat XJ … Schwartz CE (Human molecular genetics 2003) 3 4 22 60
  2. cDNA cloning and expression analysis of new members of the mammalian F-box protein family. (PMID: 10945468) Ilyin GP … Guguen-Guillouzo C (Genomics 2000) 3 4 22 60
  3. 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 (Biochemical and biophysical research communications 1999) 3 4 22 60
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for FBXW4 Gene

Sources for FBXW4 Gene

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