This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-... See more...

Aliases for FBXW7 Gene

Aliases for FBXW7 Gene

  • F-Box And WD Repeat Domain Containing 7 2 3 5
  • F-Box And WD Repeat Domain Containing 7, E3 Ubiquitin Protein Ligase 2 3
  • F-Box And WD-40 Domain Protein 7 (Archipelago Homolog, Drosophila) 2 3
  • F-Box/WD Repeat-Containing Protein 7 3 4
  • F-Box Protein FBX30 3 4
  • SEL-10 3 4
  • FBX30 3 4
  • SEL10 3 4
  • HCdc4 3 4
  • FBW7 3 4
  • HAgo 3 4
  • F-Box And WD-40 Domain-Containing Protein 7 4
  • Archipelago Homolog (Drosophila) 2
  • Homolog Of C Elegans Sel-10 3
  • F-Box Protein SEL-10 3
  • Archipelago Homolog 4
  • F-Box Protein FBW7 3
  • Archipelago 3
  • FBXO30 3
  • FBXW6 3
  • CDC4 3
  • FBW6 3
  • AGO 3

External Ids for FBXW7 Gene

Previous GeneCards Identifiers for FBXW7 Gene

  • GC04M154093
  • GC04M153631
  • GC04M153708
  • GC04M153820
  • GC04M153821
  • GC04M153600
  • GC04M153461
  • GC04M153242
  • GC04M148968

Summaries for FBXW7 Gene

Entrez Gene Summary for FBXW7 Gene

  • This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

CIViC Summary for FBXW7 Gene

GeneCards Summary for FBXW7 Gene

FBXW7 (F-Box And WD Repeat Domain Containing 7) is a Protein Coding gene. Diseases associated with FBXW7 include Hyperlucent Lung and Bladder Adenocarcinoma. Among its related pathways are Chks in Checkpoint Regulation and Cell cycle Role of SCF complex in cell cycle regulation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and ubiquitin protein ligase binding. An important paralog of this gene is BTRC.

UniProtKB/Swiss-Prot Summary for FBXW7 Gene

  • Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination (PubMed:22748924, PubMed:17434132, PubMed:26976582, PubMed:28727686). Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NOTCH2, MCL1, and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923, PubMed:22748924, PubMed:29149593, PubMed:25775507, PubMed:28007894, PubMed:26976582, PubMed:28727686). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitination and subsequent degradation of NFE2L1 (By similarity). Involved in bone homeostasis and negative regulation of osteoclast differentiation (PubMed:29149593). Regulates the amplitude of the cyclic expression of hepatic core clock genes and genes involved in lipid and glucose metabolism via ubiquitination and proteasomal degradation of their transcriptional repressor NR1D1; CDK1-dependent phosphorylation of NR1D1 is necessary for SCF(FBXW7)-mediated ubiquitination (PubMed:27238018).

Gene Wiki entry for FBXW7 Gene

Additional gene information for FBXW7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBXW7 Gene

Genomics for FBXW7 Gene

GeneHancer (GH) Regulatory Elements for FBXW7 Gene

Promoters and enhancers for FBXW7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J152533 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +0.3 308 5.6 ZNF24 SP1 ZBTB40 ZBTB6 FOXA1 MLX SMARCE1 RBPJ POLR2A ATF1 MIR4453HG FBXW7 MIR4453 lnc-TMEM154-4 TIGD4
GH04J152348 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.1 +185.0 184989 5.4 CTCF SIX5 RELA RAD21 BCL6B MLLT1 SP7 ZSCAN21 PRDM1 ZNF680 lnc-TMEM154-3 FBXW7 TRIM2 FBXW7-AS1
GH04J152382 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 750.1 +154.8 154794 3.8 HLF PKNOX1 YY1 CEBPG CEBPB TAF1 FBXW7 lnc-ARFIP1-6 RF01045-116
GH04J152679 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 39.2 -144.3 -144322 4.8 ZBTB40 POLR2A ETV6 L3MBTL2 MNT ZKSCAN8 RELA BCL6B ZNF148 SP7 TMEM154 LOC105377495 lnc-ARFIP1-1 FBXW7 ARFIP1 piR-41245-208
GH04J152484 Promoter/Enhancer 1.3 Ensembl ENCODE 11.5 +49.8 49790 2.7 ZNF24 FOXA1 NR2F6 ATF1 CREB1 MIXL1 JUND ETV6 HLF RERE FBXW7 MIR3140 ENSG00000287555
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBXW7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBXW7 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for FBXW7 Gene

Genomic Locations for FBXW7 Gene
chr4:152,320,544-152,536,095
(GRCh38/hg38)
Size:
215,552 bases
Orientation:
Minus strand
chr4:153,242,410-153,457,253
(GRCh37/hg19)
Size:
214,844 bases
Orientation:
Minus strand

Genomic View for FBXW7 Gene

Genes around FBXW7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXW7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXW7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXW7 Gene

Proteins for FBXW7 Gene

  • Protein details for FBXW7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969H0-FBXW7_HUMAN
    Recommended name:
    F-box/WD repeat-containing protein 7
    Protein Accession:
    Q969H0
    Secondary Accessions:
    • B7ZLP9
    • Q68DR0
    • Q96A16
    • Q96LE0
    • Q96RI2
    • Q9NUX6

    Protein attributes for FBXW7 Gene

    Size:
    707 amino acids
    Molecular mass:
    79663 Da
    Quaternary structure:
    • Homodimer; homodimerization plays a role in substrate binding and/or ubiquitination and degradation (PubMed:22608923, PubMed:17434132, PubMed:28007894). Component of the SCF(FBXW7) complex consisting of CUL1, RBX1, SKP1 and FBXW7 (PubMed:11565034, PubMed:15103331, PubMed:22748924, PubMed:28007894, PubMed:26976582, PubMed:28727686). Interacts (via F-box domain) with SKP1 (PubMed:11585921, PubMed:17434132, PubMed:28007894, PubMed:26976582, PubMed:28727686). Interacts (via F-box domain) with pseudophosphatase STYX; the interaction is direct and prevents FBXW7 interaction with SKP1 (PubMed:28007894). Interacts with cyclin-E (CCNE1 or CCNE2) (PubMed:11565034, PubMed:17434132). Interacts with PSEN1 (PubMed:12354302). Forms a trimeric complex with NOTCH1 and SGK1 (PubMed:21147854). Interacts with NOTCH1 intracellular domain/NICD and NOTCH4 intracellular domain/NICD (PubMed:11585921). Interacts with NOTCH2 intracellular domain (N2ICD) (PubMed:29149593). Interacts with MYC (when phosphorylated) (PubMed:17873522, PubMed:25775507, PubMed:28007894). Interacts with USP28, leading to counteract ubiquitination of MYC (PubMed:17873522). Interacts with JUN (PubMed:14739463, PubMed:22608923). Found in a complex with JUN and PRR7 (PubMed:27458189). Interacts with JUN and PRR7; the interaction inhibits ubiquitination-mediated JUN degradation promoting its phosphorylation and transcriptional activity (PubMed:27458189). Interacts (when phosphorylated at Thr-205) with PIN1, leading to disrupt FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation (PubMed:22608923). Interacts with UBE2QL1 (PubMed:24000165). Interacts with FAM83D; promotes FBXW7 degradation (PubMed:24344117). Interacts with MYCN; FBXW7 competes with AURKA for binding to unphosphorylated MYCN but not for binding to phosphorylated MYCN (PubMed:27837025). Interacts with STOML1 (PubMed:23082202). Interacts with NFE2L1 (By similarity). Interacts with USP36, leading to counteract ubiquitination of MYC (PubMed:25775507). Interacts with NR1D1 (PubMed:27238018).
    • (Microbial infection) Interacts (via WD repeats) with SV40 large T antigen (via CPD region).
    SequenceCaution:
    • Sequence=BAA91986.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FBXW7 Gene

    Alternative splice isoforms for FBXW7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXW7 Gene

Post-translational modifications for FBXW7 Gene

  • Phosphorylation at Thr-205 promotes interaction with PIN1, leading to disrupt FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation (PubMed:22608923).
  • Ubiquitinated: autoubiquitinates following phosphorylation at Thr-205 and subsequent interaction with PIN1. Ubiquitination leads to its proteasomal degradation (PubMed:22608923).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for FBXW7

No data available for DME Specific Peptides for FBXW7 Gene

Domains & Families for FBXW7 Gene

Gene Families for FBXW7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for FBXW7 Gene

GenScript: Design optimal peptide antigens:
  • F-box and WD40 domain protein 7 (A7BJS8_HUMAN)
  • hCdc4 (FBXW7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q969H0

UniProtKB/Swiss-Prot:

FBXW7_HUMAN :
  • The WD repeats mediate interaction with substrates of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex.
Domain:
  • The WD repeats mediate interaction with substrates of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex.
  • The F-box domain mediates interaction with SKP1.
genes like me logo Genes that share domains with FBXW7: view

Function for FBXW7 Gene

Molecular function for FBXW7 Gene

UniProtKB/Swiss-Prot Function:
Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination (PubMed:22748924, PubMed:17434132, PubMed:26976582, PubMed:28727686). Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NOTCH2, MCL1, and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923, PubMed:22748924, PubMed:29149593, PubMed:25775507, PubMed:28007894, PubMed:26976582, PubMed:28727686). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitination and subsequent degradation of NFE2L1 (By similarity). Involved in bone homeostasis and negative regulation of osteoclast differentiation (PubMed:29149593). Regulates the amplitude of the cyclic expression of hepatic core clock genes and genes involved in lipid and glucose metabolism via ubiquitination and proteasomal degradation of their transcriptional repressor NR1D1; CDK1-dependent phosphorylation of NR1D1 is necessary for SCF(FBXW7)-mediated ubiquitination (PubMed:27238018).

Phenotypes From GWAS Catalog for FBXW7 Gene

Gene Ontology (GO) - Molecular Function for FBXW7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15070733
GO:0030332 cyclin binding IPI 17434132
GO:0030674 protein binding, bridging IDA 12628165
GO:0031625 ubiquitin protein ligase binding IPI 12628165
GO:0042802 identical protein binding IPI 21620836
genes like me logo Genes that share ontologies with FBXW7: view
genes like me logo Genes that share phenotypes with FBXW7: view

Animal Models for FBXW7 Gene

MGI Knock Outs for FBXW7:

Animal Model Products

CRISPR Products

miRNA for FBXW7 Gene

miRTarBase miRNAs that target FBXW7

Clone Products

  • Addgene plasmids for FBXW7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXW7 Gene

Localization for FBXW7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXW7 Gene

Isoform 1: Nucleus, nucleoplasm.
Isoform 2: Cytoplasm.
Isoform 3: Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
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 FBXW7 gene
Compartment Confidence
nucleus 5
cytosol 4
endoplasmic reticulum 3
plasma membrane 2
mitochondrion 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBXW7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA 23858059
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with FBXW7: view

Pathways & Interactions for FBXW7 Gene

genes like me logo Genes that share pathways with FBXW7: view

SIGNOR curated interactions for FBXW7 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FBXW7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0001570 vasculogenesis IEA --
GO:0001944 vasculature development TAS 21123947
GO:0007062 sister chromatid cohesion IMP 15917200
GO:0007219 Notch signaling pathway IEA --
genes like me logo Genes that share ontologies with FBXW7: view

Drugs & Compounds for FBXW7 Gene

(1) Additional Compounds for FBXW7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FBXW7: view

Transcripts for FBXW7 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for FBXW7

Alternative Splicing Database (ASD) splice patterns (SP) for FBXW7 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4:
SP5:

Relevant External Links for FBXW7 Gene

GeneLoc Exon Structure for
FBXW7
ECgene alternative splicing isoforms for
FBXW7

Expression for FBXW7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXW7 Gene

mRNA differential expression in normal tissues according to GTEx for FBXW7 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FBXW7 Gene



Protein tissue co-expression partners for FBXW7 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBXW7 Gene:

FBXW7

SOURCE GeneReport for Unigene cluster for FBXW7 Gene:

Hs.561245

mRNA Expression by UniProt/SwissProt for FBXW7 Gene:

Q969H0-FBXW7_HUMAN
Tissue specificity: Isoform 1 is widely expressed. Isoform 3 is expressed in brain.

Evidence on tissue expression from TISSUES for FBXW7 Gene

  • Nervous system(4.9)
  • Eye(2.8)
  • Intestine(2.5)
  • Lung(2.3)
  • Skin(2.2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with FBXW7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXW7 Gene

Orthologs for FBXW7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FBXW7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXW7 33 32
  • 99.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBXW7 33 32
  • 96.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FBXW7 33 32
  • 93.3 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbxw7 32
  • 90.52 (n)
mouse
(Mus musculus)
Mammalia Fbxw7 17 33 32
  • 90.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FBXW7 33
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXW7 33
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXW7 33 32
  • 85.57 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBXW7 33
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxw7 32
  • 80.09 (n)
Str.6549 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.32837 32
zebrafish
(Danio rerio)
Actinopterygii fbxw7 32
  • 77.18 (n)
FBXW7 33
  • 76 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005359 32
  • 65.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta ago 33 34
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sel-10 33
  • 46 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET30 35 33
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3633 33
  • 61 (a)
OneToOne
Species where no ortholog for FBXW7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for FBXW7 Gene

ENSEMBL:
Gene Tree for FBXW7 (if available)
TreeFam:
Gene Tree for FBXW7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBXW7: view image

Paralogs for FBXW7 Gene

(19) SIMAP similar genes for FBXW7 Gene using alignment to 8 proteins:

  • FBXW7_HUMAN
  • A7BJS8_HUMAN
  • B7Z2C8_HUMAN
  • G0Z2K0_HUMAN
  • H9CWI2_HUMAN
  • H9CWI3_HUMAN
  • S4R3N3_HUMAN
  • S4R3U4_HUMAN
genes like me logo Genes that share paralogs with FBXW7: view

Variants for FBXW7 Gene

Sequence variations from dbSNP and Humsavar for FBXW7 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1057519895 likely-pathogenic, Adenocarcinoma of stomach, Squamous cell lung carcinoma, Adenoid cystic carcinoma, Uterine Carcinosarcoma, Malignant neoplasm of body of uterus, Carcinoma of esophagus, Squamous cell carcinoma of the head and neck, Medulloblastoma, Chronic lymphocytic leukemia, Neoplasm of the breast, Neoplasm of the large intestine, Ovarian Serous Cystadenocarcinoma, Lung adenocarcinoma, Uterine cervical neoplasms, A colorectal cancer sample 152,328,232(-) C/A/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057519896 likely-pathogenic, uncertain-significance, Carcinoma of esophagus, Squamous cell carcinoma of the head and neck, Adenocarcinoma of stomach, Uterine cervical neoplasms, Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma, Squamous cell lung carcinoma, Transitional cell carcinoma of the bladder, Malignant melanoma of skin, Neoplasm of the large intestine, Malignant neoplasm of body of uterus, Chronic lymphocytic leukemia, not provided, An ovarian cancer cell line 152,326,136(-) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs149680468 likely-pathogenic, Malignant neoplasm of body of uterus, Ovarian Serous Cystadenocarcinoma, Squamous cell lung carcinoma, Transitional cell carcinoma of the bladder, Uterine Carcinosarcoma, Squamous cell carcinoma of the head and neck, Adenocarcinoma of stomach, Carcinoma of esophagus, Neoplasm of the large intestine, Malignant melanoma of skin, Chronic lymphocytic leukemia, Uterine cervical neoplasms 152,326,137(-) G/A/C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs6842544 not-provided, not specified, - 152,411,407(-) T/C coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, synonymous_variant
rs747241612 likely-pathogenic, Malignant neoplasm of body of uterus, Uterine Carcinosarcoma, Squamous cell lung carcinoma, Glioblastoma, Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder, Adenocarcinoma of stomach, Malignant melanoma of skin, Neoplasm of the large intestine, Neoplasm of the breast, Papillary renal cell carcinoma, sporadic, Uterine cervical neoplasms 152,326,215(-) G/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for FBXW7 Gene

Variant ID Type Subtype PubMed ID
dgv5439n100 CNV loss 25217958
dgv5440n100 CNV loss 25217958
dgv5441n100 CNV loss 25217958
dgv5442n100 CNV loss 25217958
nsv1031970 CNV gain 25217958
nsv1131833 CNV deletion 24896259
nsv4553 CNV insertion 18451855
nsv516218 CNV loss 19592680
nsv523798 CNV loss 19592680
nsv830116 CNV gain 17160897

Variation tolerance for FBXW7 Gene

Residual Variation Intolerance Score: 36.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXW7 Gene

Human Gene Mutation Database (HGMD)
FBXW7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXW7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXW7 Gene

Disorders for FBXW7 Gene

MalaCards: The human disease database

(30) MalaCards diseases for FBXW7 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperlucent lung
  • lung, hyperlucent
bladder adenocarcinoma
  • adenocarcinoma of bladder
serous cystadenocarcinoma
  • serous adenocarcinoma
t-cell non-hodgkin lymphoma
  • t-cell nhl
uterine body mixed cancer
  • malignant mixed tumor of corpus uteri
- elite association - COSMIC cancer census association via MalaCards
Search FBXW7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FBXW7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FBXW7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXW7 Gene

Publications for FBXW7 Gene

  1. The SV40 large T antigen contains a decoy phosphodegron that mediates its interactions with Fbw7/hCdc4. (PMID: 15611062) Welcker M … Clurman BE (The Journal of biological chemistry 2005) 3 4 23 56
  2. SEL-10 interacts with presenilin 1, facilitates its ubiquitination, and alters A-beta peptide production. (PMID: 12354302) Li J … Gurney ME (Journal of neurochemistry 2002) 3 4 23 56
  3. A family of mammalian F-box proteins. (PMID: 10531037) Winston JT … Harper JW (Current biology : CB 1999) 2 3 4 56
  4. FBXW7 regulates DISC1 stability via the ubiquitin-proteosome system. (PMID: 28727686) Yalla K … Baillie GS (Molecular psychiatry 2018) 3 4 56
  5. The pseudophosphatase STYX targets the F-box of FBXW7 and inhibits SCFFBXW7 function. (PMID: 28007894) Reiterer V … Farhan H (The EMBO journal 2017) 3 4 56

Products for FBXW7 Gene

Sources for FBXW7 Gene