FBXW4

Chr 10q24.32

F-box and WD repeat domain containing 4

Aliases:: Fbw4, dactylin
MANE:: ENST00000331272.9

OMIM: 608071 ↗NCBI: 6468 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

FBXW4 · P57775

v62025-08-01

Predicted Aligned Error matrix for FBXW4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.5/ 100

Very high

412 residues

Confidence breakdown

Very high(≥ 90)78%
Confident(70–90)15%
Low(50–70)3%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
VACTERL-like phenotypes

Disease associations (Open Targets)

split hand-foot malformation 3
0.46
Split hand-split foot malformation
0.44
neurodegenerative disease
0.40
atrial fibrillation
0.25
uterine corpus leiomyoma
0.22
diabetic ketoacidosis
0.21
Abnormality of the skeletal system
0.09
tetramelic monodactyly
0.08
acute myeloid leukemia
0.07
postaxial tetramelic oligodactyly
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

F-box/WD repeat-containing protein 4

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