Gene Gene information from NCBI Gene database.
Entrez ID 6468
Gene name F-box and WD repeat domain containing 4
Gene symbol FBXW4
Synonyms (NCBI Gene)
DACFBW4FBWD4SHFM3SHSF3
Chromosome 10
Chromosome location 10q24.32
Summary 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 mainta
miRNA miRNA information provided by mirtarbase database.
60
miRTarBase ID miRNA Experiments Reference
MIRT993427 hsa-miR-1288 CLIP-seq
MIRT993428 hsa-miR-1343 CLIP-seq
MIRT993429 hsa-miR-15a CLIP-seq
MIRT993430 hsa-miR-15b CLIP-seq
MIRT993431 hsa-miR-16 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex NAS 10945468
GO:0005515 Function Protein binding IPI 22632967, 27705803, 32814053, 33961781
GO:0005829 Component Cytosol TAS
GO:0006511 Process Ubiquitin-dependent protein catabolic process NAS 10945468
GO:0016055 Process Wnt signaling pathway IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608071 10847 ENSG00000107829
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P57775
Protein name F-box/WD repeat-containing protein 4 (Dactylin) (F-box and WD-40 domain-containing protein 4)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12937 F-box-like 28 74 F-box-like Domain
PF00400 WD40 192 227 WD domain, G-beta repeat Repeat
PF00400 WD40 326 365 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, kidney, lung and liver. {ECO:0000269|PubMed:10405324}.
Sequence
MAAAAGEEEEEEEAARESAARPAAGPALWRLPEELLLLICSYLDMRALGRLAQVCRWLRR
FTSCDLLWRRIARA
SLNSGFTRLGTDLMTSVPVKERVKVSQNWRLGRCREGILLKWRCSQ
MPWMQLEDDSLYISQANFILAYQFRPDGASLNRRPLGVFAGHDEDVCHFVLANSHIVSAG
GDGKIGIHKIHSTFTVKYSAHEQEVNCVDCKGGIIVSGSRDRTAKVWPLASGRLGQCLHT
IQTEDRVWSIAISPLLSSFVTGTACCGHFSPLRIWDLNSGQLMTHLGSDFPPGAGVLDVM
YESPFTLLSCGYDTYVRYWDLRTSVRKCVMEWEEPHDSTLYCLQTDGNHLLATGSSYYGV
VRLWD
RRQRACLHAFPLTSTPLSSPVYCLRLTTKHLYAALSYNLHVLDFQNP
Sequence length 412
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
53
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ectrodactyly Conflicting classifications of pathogenicity; Uncertain significance rs560966094, rs886046646, rs768227529, rs562226127 RCV003231439
RCV003231440
RCV003231438
RCV003231437
FBXW4-related disorder Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs759980303, rs770271071, rs145250200, rs116070021, rs143070839 RCV003946295
RCV003973616
RCV003909949
RCV003957451
RCV003898094
See cases Uncertain significance rs2063780508, rs1393527867 RCV001197544
RCV001197545
Split hand-foot malformation 3 Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs61761937, rs111600818, rs61382490, rs35614606, rs570558261, rs80085258, rs771930157, rs771654851, rs886046642, rs117664315, rs77990860, rs535051082, rs200476624, rs886046647, rs557225276
View all (25 more)
RCV000358964
RCV000260916
RCV000332509
RCV000386693
RCV000358153
RCV000318955
RCV000290035
RCV000341386
RCV000301943
RCV000367332
RCV000326478
RCV000375859
RCV000317650
RCV000378646
RCV000286623
RCV000260220
RCV000347076
RCV000390675
RCV000307611
RCV000305669
RCV000388549
RCV000295831
RCV000348381
RCV000406645
RCV000353355
RCV000275032
RCV000327765
RCV000287818
RCV001106368
RCV001106369
RCV001106370
RCV001108578
RCV001108579
RCV001103408
RCV001103409
RCV001103411
RCV001105333
RCV001105334
RCV001106462
RCV001103410
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 35589867
Colorectal Neoplasms Associate 34373442
Glioma Associate 39377096
Neoplasms Associate 39377096