FBXO2

Chr 1

F-box protein 2

Also known as: FBG1, FBX2, Fbs1, NFB42, OCP1

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. This protein is highly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining neurons in a postmitotic state. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
24
Pubs (1 yr)
P/LP submissions
P/LP missense
1.00
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.000
Z-score 1.58
OE 0.55 (0.321.00)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.09Z-score
OE missense 0.98 (0.861.12)
164 obs / 167.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.321.00)
00.351.4
Missense OE?0.98 (0.861.12)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 8 / 14.5Missense obs/exp: 164 / 167.3Syn Z: 0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FBXO2 · 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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