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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TOX
thymocyte selection associated high mobility group box
Chromosome 8 · 8q12.1
NCBI Gene: 9760Ensembl: ENSG00000198846.7HGNC: HGNC:18988UniProt: O94900
63PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
natural killer cell differentiationprotein bindingCD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitmentNK T cell lineage commitmentneurodegenerative diseasesmoking initiationAbnormality of the skeletal systemalcohol drinking
✦AI Summary

TOX (thymocyte selection associated high mobility group box) is a transcriptional regulator that plays critical roles in T cell exhaustion and immune cell differentiation. TOX is highly expressed in dysfunctional tumor-specific T cells and exhausted T cells during chr8 viral infections 12. Expression of TOX is driven by chr8 T cell receptor stimulation and NFAT activation, leading to epigenetic remodeling that enforces the exhausted T cell phenotype 1. TOX upregulates genes encoding inhibitory receptors such as PDCD1 (PD-1), ENTPD1, HAVCR2, CD244, and TIGIT while maintaining chr8 accessibility at these loci 1. Functionally, TOX serves as a protective mechanism preventing T cell overstimulation and activation-induced cell death during chr8 antigen exposure 12. While TOX deletion prevents the exhaustion program, it paradoxically impairs T cell persistence in tumors, suggesting exhaustion may be necessary for long-term survival 1. In humans, TOX is expressed not only by exhausted CD8+ T cells but also by polyfunctional effector memory T cells, indicating its role extends beyond exhaustion 3. TOX also regulates memory formation in group 2 innate lymphoid cells, promoting asthma relapse 4. Clinically, TOX represents a potential therapeutic target for modulating T cell responses in cancer and chr8 infections 5.

Sources cited
1
TOX is highly expressed in dysfunctional tumor-specific T cells and is driven by chronic TCR stimulation
PMID: 31207604
2
TOX is required for development and maintenance of exhausted T cells during chronic viral infection
PMID: 31207605
3
TOX is expressed by human effector memory CD8+ T cells, not exclusively associated with exhaustion
PMID: 32620560
4
TOX regulates memory formation in group 2 innate lymphoid cells and promotes asthma relapse
PMID: 39245681
5
TOX drives epigenetic enforcement of T cell exhaustion and is important for checkpoint blockade therapies
PMID: 31570879
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
smoking initiationOpen Targets
0.45Moderate
Abnormality of the skeletal systemOpen Targets
0.41Moderate
alcohol drinkingOpen Targets
0.40Weak
risk-taking behaviourOpen Targets
0.35Weak
major depressive disorderOpen Targets
0.34Weak
ovarian dysfunctionOpen Targets
0.33Weak
Abnormality of refractionOpen Targets
0.33Weak
myopiaOpen Targets
0.33Weak
type 1 diabetes nephropathyOpen Targets
0.32Weak
refractive errorOpen Targets
0.31Weak
substance abuseOpen Targets
0.31Weak
attention deficit hyperactivity disorderOpen Targets
0.30Weak
adolescent idiopathic scoliosisOpen Targets
0.30Weak
HypermetropiaOpen Targets
0.29Weak
Increased total eosinophil countOpen Targets
0.29Weak
bone remodeling diseaseOpen Targets
0.29Weak
food allergyOpen Targets
0.28Weak
smoking behaviorOpen Targets
0.28Weak
jaw diseaseOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RASSF10Shared pathway20%TOX2Co-mentioned in literature20%ALKAL1Shared pathway17%ALKAL2Shared pathway17%KIDINS220Shared pathway17%SERPINI1Shared pathway17%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
12%
Ovary
6%
Lung
3%
Heart
1%
Liver
1%
Gene Interaction Network
Click a node to explore
TOXRASSF10TOX2ALKAL1ALKAL2KIDINS220SERPINI1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O94900
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.33Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.12–0.33]
RankingsWhere TOX stands among ~20K protein-coding genes
  • #7,418of 20,598
    Most Researched63
  • #1,347of 17,882
    Most Constrained (LOEUF)0.33 · top 10%
Genes detectedTOX
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Defining 'T cell exhaustion'.
PMID: 31570879
Nat Rev Immunol · 2019
1.00
2
TOX is expressed by exhausted and polyfunctional human effector memory CD8
PMID: 32620560
Sci Immunol · 2020
0.90
3
TOX is a critical regulator of tumour-specific T cell differentiation.
PMID: 31207604
Nature · 2019
0.80
4
TCF-1 and TOX regulate the memory formation of intestinal group 2 innate lymphoid cells in asthma.
PMID: 39245681
Nat Commun · 2024
0.70
5
LAG-3 sustains TOX expression and regulates the CD94/NKG2-Qa-1b axis to govern exhausted CD8 T cell NK receptor expression and cytotoxicity.
PMID: 39121847
Cell · 2024
0.60