FBXO3

Chr 11

F-box protein 3

Also known as: FBA, FBX3

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 the 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 Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. [provided by RefSeq, Jul 2008]

0
Active trials
6
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.29
LOEUF· LoF intol.
Mechanism
Clinical SummaryFBXO3
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.29LOEUF
pLI 0.989
Z-score 4.52
OE 0.13 (0.060.29)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.15Z-score
OE missense 0.63 (0.560.72)
168 obs / 266.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.13 (0.060.29)
00.351.4
Missense OE0.63 (0.560.72)
00.61.4
Synonymous OE0.87
01.21.6
LoF obs/exp: 4 / 31.3Missense obs/exp: 168 / 266.8Syn Z: 1.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FBXO3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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