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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FBXW12
F-box and WD repeat domain containing 12
Chromosome 3 · 3p21.31
NCBI Gene: 285231Ensembl: ENSG00000164049.14HGNC: HGNC:20729UniProt: Q6X9E4
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
SCF-dependent proteasomal ubiquitin-dependent protein catabolic processcytosolprotein ubiquitinationcytoplasmBlackfan-Diamond anemiamathematical abilityHereditary persistence of fetal hemoglobin - beta-thalassemiahereditary persistence of fetal hemoglobin-sickle cell disease syndrome
✦AI Summary

FBXW12 is an F-box protein that functions as a substrate-recognition component of SCF-type E3 ubiquitin ligase complexes 1. Its primary function is promoting degradation of the interleukin-22 receptor subunit IL22RA1 through ubiquitin-mediated proteasomal degradation in both resting and IL-22-stimulated conditions 1. FBXW12 acts as a cell growth suppressor; its knockdown increases epithelial cell proliferation and enhances STAT3 phosphorylation and mitogen-activated protein kinase signaling 1. Disease relevance is evident across multiple contexts: the gene is deleted or epigenetically silenced by CpG methylation in approximately 10% of epithelial ovarian cancer cases 2, and truncating variants in FBXW12 have been identified as homozygous through loss of heterozygosity in neuroblastoma development 3. Additionally, a circular RNA derived from FBXW12 (circ-FBXW12) promotes diabetic nephropathy progression by sponging miR-31-5p 4. Clinically, FBXW12 variants contribute to interindividual variability in drug metabolism, specifically affecting losartan metabolism through CYP2C9 pathways 5, suggesting potential pharmacogenetic significance for personalized medicine applications.

Sources cited
1
FBXW12 is an E3 ligase component that ubiquitinates and degrades IL-22R, functions as a cell growth suppressor, and regulates epithelial cell proliferation
PMID: 26171402
2
FBXW12 is deleted or methylated in approximately 10% of epithelial ovarian cancer cases
PMID: 26617728
3
Truncating FBXW12 variants become homozygous through copy-neutral loss of heterozygosity in neuroblastoma development
PMID: 33934450
4
Circular RNA derived from FBXW12 promotes diabetic nephropathy by regulating the miR-31-5p/LIN28B axis
PMID: 34863268
5
FBXW12 variants (rs17080138) contribute to interindividual variability in CYP2C9-mediated losartan metabolism
PMID: 38637968
Disease Associationsⓘ20
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
mathematical abilityOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.07Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.06Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.06Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.06Suggestive
dominant beta-thalassemiaOpen Targets
0.06Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
amelogenesis imperfectaOpen Targets
0.06Suggestive
Hypomaturation amelogenesis imperfectaOpen Targets
0.06Suggestive
hemoglobin H diseaseOpen Targets
0.06Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FBXW10Shared pathway100%FBXO46Shared pathway100%FBXO25Shared pathway100%FBXO24Shared pathway100%FBXO42Shared pathway100%FBXO34Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Brain
40%
Ovary
35%
Lung
8%
Bone Marrow
6%
Heart
0%
Gene Interaction Network
Click a node to explore
FBXW12FBXW10FBXO46FBXO25FBXO24FBXO42FBXO34
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6X9E4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.62–1.04]
RankingsWhere FBXW12 stands among ~20K protein-coding genes
  • #16,448of 20,598
    Most Researched12
  • #10,367of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedFBXW12
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
FBXW12, a novel F box protein-encoding gene, is deleted or methylated in some cases of epithelial ovarian cancer.
PMID: 26617728
Int J Clin Exp Pathol · 2015
1.00
2
Phenotype-Genotype Correlation Applying a Cocktail Approach and an Exome Chip Analysis Reveals Further Variants Contributing to Variation of Drug Metabolism.
PMID: 38637968
Clin Pharmacol Ther · 2024
0.86
3
Functional study of acetaldehyde dehydrogenase 1 (ALDH1) in keratinocytes: microarray integrating bioinformatics approaches.
PMID: 32189581
J Biomol Struct Dyn · 2021
0.71
4
cDNA cloning and expression analysis of a novel human F-box domain containing gene.
PMID: 15040455
Mol Biol Rep · 2004
0.57
5
Clonal evidence for the development of neuroblastoma with extensive copy-neutral loss of heterozygosity arising in a mature teratoma.
PMID: 33934450
Cancer Sci · 2021
0.43