HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TOX2
TOX high mobility group box family member 2
Chromosome 20 · 20q13.12
NCBI Gene: 84969Ensembl: ENSG00000124191.19HGNC: HGNC:16095UniProt: H6UKR8
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IItranscription coactivator activitynucleoplasmnucleuscolorectal cancerpyogenic granulomamultiple sclerosisnutritional deficiency disease
✦AI Summary

TOX2 is a transcriptional regulator belonging to the TOX high mobility group box family that functions as a key controller of immune cell differentiation and development. In natural killer (NK) cells, TOX2 promotes maturation by directly upregulating TBX21 (T-BET) expression, a critical transcription factor for NK cell differentiation 1. TOX2 also plays a distinct role in CAR T cell therapy by promoting central memory T cell (TCM) differentiation, contrasting with its paralogue TOX which drives T cell exhaustion 2. During human fetal immune development, TOX2+ precursor cells transition to mature naive CD4+ T cells, indicating involvement in immune system maturation 3. In pathological contexts, TOX2 is aberrantly overexpressed in natural killer/T-cell lymphoma (NKTL), where it functions as an oncogene downstream of RUNX3, promoting cell proliferation and tumor formation through the PRL-3 effector pathway 4. In acute T-cell leukemia, TOX2 nuclear-cytosol translocation, mediated by Sirt1 and TBK1, represses TIM3 transcription through recruitment of the corepressor LCOR and deacetylase HDAC3, contributing to leukemogenesis 5. These findings establish TOX2 as a pleiotropic transcriptional regulator with distinct roles in normal lymphocyte development versus malignant transformation.

Sources cited
1
TOX2 directly upregulates TBX21 (T-BET) to promote NK cell maturation from CD34+ progenitors
PMID: 25352127
2
TOX2 promotes central memory T cell differentiation in CAR T cells, in contrast to exhaustion regulator TOX
PMID: 37467321
3
TOX2+ precursor cells transition to mature naive CD4+ T cells during human fetal immune development
PMID: 41161316
4
TOX2 is an SE-driven oncogene in NKTL, regulated by RUNX3, promoting cell proliferation and tumor formation via PRL-3
PMID: 37032358
5
TOX2 nuclear-cytosol translocation represses TIM3 transcription via LCOR/HDAC3 recruitment in T-ALL leukemogenesis
PMID: 39080376
6
TOX is highlighted as an important transcriptional regulator driving exhaustion in T cells
PMID: 31570879
7
TOX2 is expressed in intrahepatic NK cells in colorectal cancer liver metastases with antitumor functions
PMID: 41148229
Disease Associationsⓘ20
colorectal cancerOpen Targets
0.46Moderate
pyogenic granulomaOpen Targets
0.32Weak
multiple sclerosisOpen Targets
0.32Weak
nutritional deficiency diseaseOpen Targets
0.31Weak
ovarian dysfunctionOpen Targets
0.31Weak
colorectal adenomaOpen Targets
0.31Weak
systemic lupus erythematosusOpen Targets
0.28Weak
autoimmune disorder of musculoskeletal systemOpen Targets
0.28Weak
connective tissue diseaseOpen Targets
0.27Weak
mouth neoplasmOpen Targets
0.27Weak
bronchial diseaseOpen Targets
0.25Weak
Abnormality of refractionOpen Targets
0.25Weak
hemolytic anemiaOpen Targets
0.25Weak
Subdural hemorrhageOpen Targets
0.25Weak
duodenitisOpen Targets
0.24Weak
preeclampsiaOpen Targets
0.16Weak
Abruptio PlacentaeOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
acute lymphoblastic leukemiaOpen Targets
0.06Suggestive
acute myeloid leukemiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF461Protein interaction93%TOXCo-mentioned in literature20%
Tissue Expression6 tissues
Lung
100%
Brain
50%
Liver
18%
Bone Marrow
18%
Ovary
9%
Heart
7%
Gene Interaction Network
Click a node to explore
TOX2ZNF461TOX
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96NM4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.51Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.33 [0.22–0.51]
RankingsWhere TOX2 stands among ~20K protein-coding genes
  • #13,553of 20,598
    Most Researched23
  • #3,063of 17,882
    Most Constrained (LOEUF)0.51 · top quartile
Genes detectedTOX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Defining 'T cell exhaustion'.
PMID: 31570879
Nat Rev Immunol · 2019
1.00
2
Super-enhancer-driven TOX2 mediates oncogenesis in Natural Killer/T Cell Lymphoma.
PMID: 37032358
Mol Cancer · 2023
0.90
3
TOX2 coordinates with TET2 to positively regulate central memory differentiation in human CAR T cells.
PMID: 37467321
Sci Adv · 2023
0.80
4
Systemic immune activity occurs during human immune system maturation.
PMID: 41161316
Cell · 2025
0.70
5
TOX2 nuclear-cytosol translocation is linked to leukemogenesis of acute T-cell leukemia by repressing TIM3 transcription.
PMID: 39080376
Cell Death Differ · 2024
0.60