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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FBXO46
F-box protein 46
Chromosome 19 · 19q13.32
NCBI Gene: 23403Ensembl: ENSG00000177051.7HGNC: HGNC:25069UniProt: Q6PJ61
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingubiquitin-like ligase-substrate adaptor activitySCF-dependent proteasomal ubiquitin-dependent protein catabolic processSCF ubiquitin ligase complexcoronary atherosclerosiscoronary artery diseasetype 2 diabetes mellitusobesity
✦AI Summary

FBXO46 is an F-box protein component of the SCF(FBXO46) ubiquitin ligase complex that functions as a substrate-recognition adaptor for protein degradation 1. In unstressed cells, FBXO46 recognizes RXXR motifs on FBXO31 to promote its polyubiquitination and proteasomal degradation, maintaining basal FBXO31 levels and preventing premature senescence 1. FBXO46 also negatively regulates p53 tumor suppressor activity by directly binding to and stabilizing Mdm2, its principal E3 ubiquitin ligase, thereby enhancing p53 degradation and promoting cell proliferation and G1/S cell cycle progression 2. Following genotoxic stress, ATM-mediated phosphorylation of FBXO46 triggers its degradation, allowing FBXO31 accumulation and genomic stability maintenance 1. Clinically, elevated FBXO46 expression associates with poor outcomes in colorectal cancer as part of a prognostic 4-gene signature (HR: 3.42, p<0.001) 3, and represents a potential therapeutic target in triple-negative breast cancer linked to USP2-mediated signaling 4. FBXO46 variants also show suggestive association with mitral valve prolapse risk 5.

Sources cited
1
FBXO46 is an SCF-E3 ubiquitin ligase component that maintains basal FBXO31 levels by recognizing RXXR motifs and promoting its polyubiquitination and proteasomal degradation; FBXO46 is phosphorylated and degraded following DNA damage via ATM activation
PMID: 30171069
2
FBXO46 negatively regulates p53 by binding to Mdm2, inhibiting its self-ubiquitination, stabilizing it, and thereby promoting p53 degradation; FBXO46 promotes cell proliferation and G1/S cell cycle progression
PMID: 39548735
3
FBXO46 is part of a 4-gene prognostic signature for colorectal cancer that independently predicts poor overall survival (HR: 3.42, 95% CI: 1.71-7.94, p<0.001)
PMID: 31387239
4
FBXO46 variants on chromosome 19 show suggestive association with mitral valve prolapse risk in genome-wide association meta-analysis
PMID: 34461747
5
FBXO46 expression is upregulated in triple-negative breast cancer and linked to USP2-mediated signaling; it is a potential therapeutic target whose expression is reduced by ML364 treatment inducing cytotoxicity
PMID: 39754775
Disease Associationsⓘ20
coronary atherosclerosisOpen Targets
0.10Suggestive
coronary artery diseaseOpen Targets
0.09Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
obesityOpen Targets
0.02Suggestive
diabetic retinopathyOpen Targets
0.02Suggestive
gallstonesOpen Targets
0.02Suggestive
myocardial infarctionOpen Targets
0.02Suggestive
perinatal diseaseOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FBXO48Shared pathway100%FBXO47Shared pathway100%FBXW12Shared pathway100%FBXO15Shared pathway100%AMN1Shared pathway100%FBXO39Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Liver
72%
Lung
60%
Bone Marrow
28%
Heart
26%
Brain
25%
Gene Interaction Network
Click a node to explore
FBXO46FBXO48FBXO47FBXW12FBXO15AMN1FBXO39
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6PJ61
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.22Tolerant
Observed/Expected LoF0.42 [0.27–0.67]
RankingsWhere FBXO46 stands among ~20K protein-coding genes
  • #11,337of 20,598
    Most Researched33
  • #4,936of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedFBXO46
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Identification and Clinical Validation of a Novel 4 Gene-Signature with Prognostic Utility in Colorectal Cancer.
PMID: 31387239
Int J Mol Sci · 2019
1.00
2
Genome-Wide Association Meta-Analysis Supports Genes Involved in Valve and Cardiac Development to Associate With Mitral Valve Prolapse.
PMID: 34461747
Circ Genom Precis Med · 2021
0.80
3
FBXO46 negatively regulates p53 activity by stabilizing Mdm2.
PMID: 39548735
FEBS Lett · 2025
0.60
4
The SCF
PMID: 30171069
J Biol Chem · 2018
0.40
5
PPA1, TRIM68 and FBXO46: Potential Therapeutic Targets for Triple Negative Breast Cancer.
PMID: 39754775
Curr Protein Pept Sci · 2025
0.20