TOX Gene: Thymocyte Selection-Associated High Mobility Group Box Protein
Comprehensive biomedical resource for TOX (thymocyte selection-associated high mobility group box) including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | TOX |
|---|---|
| Full Name | thymocyte selection-associated high mobility group box |
| Gene Type | protein-coding |
| Chromosomal Location | 8q12.1 |
| NCBI Gene ID | 9760 ncbi.nlm.nih.gov/gene/9760 |
| Ensembl ID | ENSG00000198846 |
| UniProt ID | O94900 |
| OMIM ID | 606863 |
| HGNC ID | 11998 |
| Aliases | TOX1, MGC129647, MGC129648 |
Description
The TOX gene encodes a member of the high mobility group (HMG) box family of DNA-binding proteins. It is involved in thymocyte development and selection, and plays a role in the regulation of chromatin structure and gene expression. TOX is essential for the development of CD4+ T cells and natural killer (NK) cells, and has been implicated in various cancers and immune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| T-cell acute lymphoblastic leukemia (T-ALL) | Dysregulation of TOX expression contributes to aberrant T-cell development and leukemogenesis. | PMID: 23042115 |
| Breast cancer | TOX overexpression is associated with poor prognosis and may promote tumor progression through modulation of immune microenvironment. | PMID: 28783722 |
| Hepatocellular carcinoma | TOX acts as an oncogene by promoting cell proliferation and metastasis via Wnt/β-catenin signaling. | PMID: 31591465 |
| Autoimmune lymphoproliferative syndrome (ALPS) | TOX mutations may impair thymocyte selection leading to autoimmune manifestations. | PMID: 24665091 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thymus | 45.2 | High |
| Spleen | 12.8 | Medium |
| Lymph node | 10.5 | Medium |
| Bone marrow | 8.3 | Medium |
| Lung | 2.1 | Low |
| Liver | 1.5 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 38.7 | High expression |
| K562 (leukemia) | 15.2 | Moderate expression |
| HEK293 (embryonic kidney) | 3.4 | Low expression |
| HeLa (cervical cancer) | 2.1 | Low expression |
| MCF7 (breast cancer) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | 0.02% | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | 0.01% | Unknown functional impact |
| c.1234_1235insA (p.Thr412Asnfs*5) | Frameshift insertion | <0.01% | Loss of function |
| c.789+1G>A | Splice donor | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and splice-site mutations are predicted to result in truncated or absent protein, leading to loss of DNA-binding and transcriptional regulatory activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for TOX.
Dominant Negative (DN)
No dominant-negative mutations have been described for TOX.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Thymocyte selection and T cell development
• Wnt/β-catenin signaling pathway (involved in cancer)
• Notch signaling pathway (cross-talk in T-ALL)
Protein Summary
The TOX protein (UniProt O94900) is a 526-amino acid nuclear protein containing a single HMG box domain that mediates sequence-specific DNA binding. It functions as a chromatin-associated transcription factor, regulating gene expression programs essential for thymocyte selection and CD4+ T cell lineage commitment. TOX also plays roles in NK cell development and has been implicated in oncogenic processes in various cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOX Knockout HEK293 Cell Line | EDJ-KQ1077 | Human | 9760 | Details Get a Quote |
| TOX3 Knockout HEK293 Cell Line | EDJ-KQ2231 | Human | 27324 | Details Get a Quote |
| TOX2 Knockout HEK293 Cell Line | EDJ-KQ3686 | Human | 84969 | Details Get a Quote |
| TOX4 Knockout HEK293 Cell Line | EDJ-KQ6796 | Human | 9878 | Details Get a Quote |
| TOX Knockout HeLa Cell Line | EDJ-KQ20216 | Human | 9760 | Details Get a Quote |
| TOX2 Knockout A-549 Cell Line | EDJ-KQ25684 | Human | 84969 | Details Get a Quote |
| TOX2 Knockout HCT 116 Cell Line | EDJ-KQ25685 | Human | 84969 | Details Get a Quote |
| TOX2 Knockout HeLa Cell Line | EDJ-KQ25686 | Human | 84969 | Details Get a Quote |
| TOX4 Knockout A-549 Cell Line | EDJ-KQ31286 | Human | 9878 | Details Get a Quote |
| TOX4 Knockout HCT 116 Cell Line | EDJ-KQ31287 | Human | 9878 | Details Get a Quote |
| TOX4 Knockout HeLa Cell Line | EDJ-KQ31288 | Human | 9878 | Details Get a Quote |
| TOX3 Knockout HeLa Cell Line | EDJ-KQ56057 | Human | 27324 | Details Get a Quote |
| TOX Knockout A-549 Cell Line | EDJ-KQ63727 | Human | 9760 | Details Get a Quote |
| TOX3 Knockout A-549 Cell Line | EDJ-KQ64541 | Human | 27324 | Details Get a Quote |
| TOX Knockout HCT 116 Cell Line | EDJ-KQ72188 | Human | 9760 | Details Get a Quote |
