Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55294
Gene name Gene Name - the full gene name approved by the HGNC.
F-box and WD repeat domain containing 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FBXW7
Synonyms (NCBI Gene) Gene synonyms aliases
AGO, CDC4, DEDHIL, FBW6, FBW7, FBX30, FBXO30, FBXW6, SEL-10, SEL10, hAgo, hCdc4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEDHIL
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q31.3
Summary Summary of gene provided in NCBI Entrez 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), w
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs149680468 G>A,C,T Likely-pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs747241612 G>C Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs759610249 C>T Likely-pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs866987936 C>A,G,T Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs867384286 G>A,C Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004756 hsa-miR-107 Luciferase reporter assay, Microarray, Northern blot, Western blot 20042474
MIRT004757 hsa-miR-128-3p Luciferase reporter assay, Microarray, Northern blot, Western blot 20042474
MIRT003827 hsa-miR-197-3p Microarray 16822819
MIRT006237 hsa-miR-223-3p Luciferase reporter assay, qRT-PCR, Western blot 22270966
MIRT006357 hsa-miR-27a-3p Luciferase reporter assay, Western blot 21460851
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination TAS
GO:0001570 Process Vasculogenesis IEA
GO:0001944 Process Vasculature development TAS 21123947
GO:0005515 Function Protein binding IPI 15070733, 15103331, 17157259, 17314511, 17909182, 19412162, 20596027, 20823234, 21145461, 21620836, 22307056, 23022380, 23108047, 23791182, 24000165, 24344117, 25344755, 27238018, 27458189, 27837025, 28007894, 28514442, 29149593
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606278 16712 ENSG00000109670
Protein
UniProt ID Q969H0
Protein name F-box/WD repeat-containing protein 7 (Archipelago homolog) (hAgo) (F-box and WD-40 domain-containing protein 7) (F-box protein FBX30) (SEL-10) (hCdc4)
Protein 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 (PubMed:17434132, PubMed:22748924, PubMed:26976582
PDB 2OVP , 2OVQ , 2OVR , 5IBK , 5V4B , 7T1Y , 7T1Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12937 F-box-like 281 327 F-box-like Domain
PF00400 WD40 370 407 WD domain, G-beta repeat Repeat
PF00400 WD40 411 447 WD domain, G-beta repeat Repeat
PF00400 WD40 451 487 WD domain, G-beta repeat Repeat
PF00400 WD40 491 527 WD domain, G-beta repeat Repeat
PF00400 WD40 531 567 WD domain, G-beta repeat Repeat
PF00400 WD40 571 607 WD domain, G-beta repeat Repeat
PF00400 WD40 611 650 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Widely expressed. {ECO:0000269|PubMed:12354302}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in brain. {ECO:0000269|PubMed:12354302}.
Sequence
MNQELLSVGSKRRRTGGSLRGNPSSSQVDEEQMNRVVEEEQQQQLRQQEEEHTARNGEVV
GVEPRPGGQNDSQQGQLEENNNRFISVDEDSSGNQEEQEEDEEHAGEQDEEDEEEEEMDQ
ESDDFDQSDDSSREDEHTHTNSVTNSSSIVDLPVHQLSSPFYTKTTKMKRKLDHGSEVRS
FSLGKKPCKVSEYTSTTGLVPCSATPTTFGDLRAANGQGQQRRRITSVQPPTGLQEWLKM
FQSWSGPEKLLALDELIDSCEPTQVKHMMQVIEPQFQRDFISLLPKELALYVLSFLEPKD
LLQAAQTCRYWRILAEDNLLWREKCKE
EGIDEPLHIKRRKVIKPGFIHSPWKSAYIRQHR
IDTNWRRGELKSPKVLKGHDDHVITCLQFCGNRIVSGSDDNTLKVWSAVTGKCLRTLVGH
TGGVWSSQMRDNIIISGSTDRTLKVWN
AETGECIHTLYGHTSTVRCMHLHEKRVVSGSRD
ATLRVWD
IETGQCLHVLMGHVAAVRCVQYDGRRVVSGAYDFMVKVWDPETETCLHTLQGH
TNRVYSLQFDGIHVVSGSLDTSIRVWD
VETGNCIHTLTGHQSLTSGMELKDNILVSGNAD
STVKIWD
IKTGQCLQTLQGPNKHQSAVTCLQFNKNFVITSSDDGTVKLWDLKTGEFIRNL
VTLESGGSGGVVWRIRASNTKLVCAVGSRNGTEETKLLVLDFDVDMK
Sequence length 707
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ubiquitin mediated proteolysis   Constitutive Signaling by NOTCH1 PEST Domain Mutants
Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 23685749, 26619011
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
17588203
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
17588203
Carcinoma Carcinoma, Basal Cell rs121912654, rs555607708, rs786202962, rs1564055259 26950094
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 26317919, 26536055, 29219616
Adenocarcinoma Mucinous Associate 29793804
Adenocarcinoma of Lung Associate 24360397, 37393311
Adenoma Associate 25860929, 27221540
Adenomatous Polyposis Coli Associate 37164664
Adenomyosis Associate 36708516
Aneuploidy Associate 26354767
Ataxia Telangiectasia Associate 17646409, 27602765
Beckwith Wiedemann Syndrome Associate 35507738
Breast Neoplasms Associate 15318934, 21122106, 21134077, 22538770, 25669969, 25927147, 26482194, 27409838, 30365154, 31351478, 31704974, 34181803, 34953047, 35132755, 35508987