FBXW4
F-box and WD repeat domain containing 4
Gene Information Card
| Symbol | FBXW4 |
|---|---|
| Full Name | F-box and WD repeat domain containing 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 6468 ncbi.nlm.nih.gov/gene/6468 |
| Ensembl ID | ENSG00000107829 |
| UniProt ID | Q9UKT5 |
| OMIM ID | 608071 |
| HGNC ID | 13610 |
| Aliases | FBW4, Fbw4, dactylin, SHFM3 |
Description
FBXW4 (F-box and WD repeat domain containing 4) encodes a member of the F-box protein family, which is characterized by an F-box motif and WD40 repeats. This protein is a component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which mediates ubiquitination and subsequent proteasomal degradation of target proteins. FBXW4 is involved in limb development and its disruption is associated with split hand/foot malformation type 3 (SHFM3).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Split hand/foot malformation type 3 (SHFM3) | Deletion or rearrangement of the FBXW4 gene region on chromosome 10q24 leads to haploinsufficiency or altered expression, disrupting limb development. | OMIM #600095; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Placenta | 8.7 | Low |
| Kidney | 6.5 | Low |
| Lung | 5.2 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.3 | Cervical cancer cells |
| K562 | 5.6 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| Deletion of 10q24.32 | structural variant | Associated with SHFM3 | Haploinsufficiency of FBXW4 |
Mutation functional classification
Loss of Function (LOF)
Deletions or loss-of-function mutations in FBXW4 are associated with split hand/foot malformation type 3 (SHFM3).
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein ubiquitination |
| • SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | • WD40-repeat domain binding |
| • limb morphogenesis |
Pathways
• SCF ubiquitin ligase complex
• Ubiquitin-mediated proteolysis
Protein Summary
FBXW4 encodes a 440-amino acid protein (UniProt Q9UKT5) containing an N-terminal F-box domain and C-terminal WD40 repeats. It functions as the substrate-recognition component of the SCF ubiquitin ligase complex, targeting proteins for degradation. The protein is expressed in developing limbs and other tissues, playing a critical role in limb patterning.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXW4 Knockout HEK293 Cell Line | EDJ-KQ3194 | Human | 6468 | Details Get a Quote |
| FBXW4 Knockout HeLa Cell Line | EDJ-KQ23262 | Human | 6468 | Details Get a Quote |
| FBXW4 Knockout A-549 Cell Line | EDJ-KQ24645 | Human | 6468 | Details Get a Quote |
| FBXW4 Knockout HCT 116 Cell Line | EDJ-KQ24646 | Human | 6468 | Details Get a Quote |
