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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TOX3
TOX high mobility group box family member 3
Chromosome 16 · 16q12.1
NCBI Gene: 27324Ensembl: ENSG00000103460.18HGNC: HGNC:11972UniProt: O15405
91PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromatin bindingtranscription coactivator activityprotein bindingnegative regulation of neuron apoptotic processbreast carcinomabreast cancerneurodegenerative diseaserestless legs syndrome
✦AI Summary

TOX3 (TOX high mobility group box family member 3) is a transcriptional coactivator that regulates diverse cellular processes through chr16 binding and transcriptional activation. The protein functions as a transcriptional driver for hepatic glucose production by directly binding to and activating the FoxO1 promoter, thereby stimulating gluconeogenesis 1. TOX3 demonstrates tissue-specific regulatory roles, with altered methylation patterns and expression levels observed in polycystic ovarian syndrome, where decreased TOX3 protein levels correlate with disease pathology 2. The gene also appears to influence cellular differentiation, as TOX3 expression changes are associated with selection against goblet cell differentiation in colorectal cancer through methylation alterations rather than mutations 3. Clinically, TOX3 polymorphisms, particularly rs3803662 C>T, rs12443621 A>G, and rs8051542 C>T, are significantly associated with increased breast cancer risk across multiple populations, with meta-analysis of 97,275 cases and 128,686 controls confirming these associations 4. The rs3803662 polymorphism shows particular relevance in breast cancer susceptibility, with T alleles conferring increased risk and associations with specific receptor subtypes including progesterone receptor-positive and triple-negative breast cancers 5. These findings establish TOX3 as a metabolically relevant transcription factor with important implications for cancer susceptibility and metabolic disease.

Sources cited
1
The protein functions as a transcriptional driver for hepatic glucose production by directly binding to and activating the FoxO1 promoter, thereby stimulating gluconeogenesis .
PMID: 38145825
2
TOX3 demonstrates tissue-specific regulatory roles, with altered methylation patterns and expression levels observed in polycystic ovarian syndrome, where decreased TOX3 protein levels correlate with disease pathology .
PMID: 28537684
3
The gene also appears to influence cellular differentiation, as TOX3 expression changes are associated with selection against goblet cell differentiation in colorectal cancer through methylation alterations rather than mutations .
PMID: 39401352
4
Clinically, TOX3 polymorphisms, particularly rs3803662 C>T, rs12443621 A>G, and rs8051542 C>T, are significantly associated with increased breast cancer risk across multiple populations, with meta-analysis of 97,275 cases and 128,686 controls confirming these associations .
PMID: 26239137
5
The rs3803662 polymorphism shows particular relevance in breast cancer susceptibility, with T alleles conferring increased risk and associations with specific receptor subtypes including progesterone receptor-positive and triple-negative breast cancers .
PMID: 35200585
Disease Associationsⓘ20
breast carcinomaOpen Targets
0.56Moderate
breast cancerOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
restless legs syndromeOpen Targets
0.51Moderate
cancerOpen Targets
0.49Moderate
estrogen-receptor positive breast cancerOpen Targets
0.49Moderate
breast neoplasmOpen Targets
0.48Moderate
hepatocellular carcinomaOpen Targets
0.45Moderate
lung cancerOpen Targets
0.44Moderate
type 2 diabetes mellitusOpen Targets
0.43Moderate
gastric cancerOpen Targets
0.43Moderate
colorectal cancerOpen Targets
0.43Moderate
pancreatic carcinomaOpen Targets
0.43Moderate
non-Hodgkins lymphomaOpen Targets
0.43Moderate
ovarian cancerOpen Targets
0.43Moderate
endometrial cancerOpen Targets
0.43Moderate
esophageal cancerOpen Targets
0.43Moderate
prostate carcinomaOpen Targets
0.43Moderate
triple-negative breast cancerOpen Targets
0.42Moderate
luminal B breast carcinomaOpen Targets
0.42Moderate
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LSP1Protein interaction89%MAP3K1Protein interaction84%FGFR2Protein interaction83%BRCA2Protein interaction80%SLC4A7Protein interaction78%NEK10Protein interaction77%
Tissue Expression6 tissues
Brain
100%
Liver
42%
Ovary
3%
Lung
1%
Bone Marrow
1%
Heart
0%
Gene Interaction Network
Click a node to explore
TOX3LSP1MAP3K1FGFR2BRCA2SLC4A7NEK10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O15405
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.30 [0.19–0.47]
RankingsWhere TOX3 stands among ~20K protein-coding genes
  • #5,276of 20,598
    Most Researched91
  • #2,694of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedTOX3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Understanding genetic variations associated with familial breast cancer.
PMID: 39390525
World J Surg Oncol · 2024
1.00
2
Risk Association of
PMID: 35200585
Curr Oncol · 2022
0.90
3
Relationship between abnormal TOX3 gene methylation and polycystic ovarian syndrome.
PMID: 28537684
Eur Rev Med Pharmacol Sci · 2017
0.80
4
TOX3 deficiency mitigates hyperglycemia by suppressing hepatic gluconeogenesis through FoxO1.
PMID: 38145825
Metabolism · 2024
0.70
5
An
PMID: 31819019
J Genet · 2019
0.60