FBXW11 Chromosome 5
F-box and WD repeat domain containing 11
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What This Gene Does
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 belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|F-box and WD repeat domain containing"
Locus Type
gene with protein product
Location
5q35.1
Ensembl
ENSG00000072803
Associated Conditions (7)
Neurodevelopmental
jaw
eye
and digital syndrome
FBXW11-related neurodevelopmental
brain
and digit anomalies
Key Variants
RS1045263586
Conflicting classifications of pathogenicity
Health Risk
RS1758081729
Conflicting classifications of pathogenicity
Neurodevelopmental, jaw, eye
Health Risk
RS1758225061
Conflicting classifications of pathogenicity
FBXW11-related neurodevelopmental, brain, eye
Health Risk
RS1758081491
Likely pathogenic
Neurodevelopmental, jaw, eye
Health Risk
RS2113754835
Likely pathogenic
Neurodevelopmental, jaw, eye
Health Risk
RS1757708758
Pathogenic/Likely pathogenic
Neurodevelopmental, jaw, eye
Health Risk
RS1759346639
Pathogenic/Likely pathogenic
Neurodevelopmental, jaw, eye
Health Risk
RS2113777419
Pathogenic/Likely pathogenic
Neurodevelopmental, jaw, eye
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1045263586 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1758081729 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental, jaw, eye |
| RS1758225061 | Health Risk | Conflicting classifications of pathogenicity | FBXW11-related neurodevelopmental, brain, eye |
| RS1758081491 | Health Risk | Likely pathogenic | Neurodevelopmental, jaw, eye |
| RS2113754835 | Health Risk | Likely pathogenic | Neurodevelopmental, jaw, eye |
| RS1757708758 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental, jaw, eye |
| RS1759346639 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental, jaw, eye |
| RS2113777419 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental, jaw, eye |