TBX21 (T-Box Transcription Factor 21)
Master regulator of Th1 cell differentiation and immune response
Gene Information Card
| Symbol | TBX21 |
|---|---|
| Full Name | T-Box Transcription Factor 21 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 30009 ncbi.nlm.nih.gov/gene/30009 |
| Ensembl ID | ENSG00000073861 |
| UniProt ID | Q9UL17 |
| OMIM ID | 604895 |
| HGNC ID | 11599 |
| Aliases | T-bet, TBLYM, TBX21, T-box 21 |
Description
TBX21 (T-box transcription factor 21), commonly known as T-bet, is a master regulator of T-helper 1 (Th1) cell lineage commitment. It controls the expression of interferon-gamma (IFNG) and other Th1 cytokines, while suppressing Th2 and Th17 differentiation. TBX21 is critical for adaptive immunity and is implicated in asthma, autoimmune diseases, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | TBX21 variants reduce Th1 response, promoting Th2-mediated airway inflammation | NCBI Gene, ClinVar |
| Rheumatoid arthritis | Altered TBX21 expression skews T-cell balance toward pro-inflammatory Th1/Th17 | NCBI Gene, OMIM |
| Inflammatory bowel disease | TBX21 polymorphisms linked to dysregulated mucosal immunity | NCBI Gene, ClinVar |
| Multiple sclerosis | TBX21 influences Th1/Th17 axis in CNS autoimmunity | NCBI Gene, OMIM |
| Type 1 diabetes | TBX21 variants associated with autoimmune beta-cell destruction | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Lung | 6.3 | Low |
| Blood | 15.2 | High |
| Bone marrow | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 18.7 | High expression |
| THP-1 (monocytic) | 2.3 | Low expression |
| HeLa (cervical carcinoma) | 0.8 | Not detected |
| K562 (erythroleukemia) | 1.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Ile) | Missense | 0.02% | Reduced DNA binding and transactivation |
| c.1018G>A (p.Gly340Ser) | Missense | 0.01% | Altered protein stability |
| c.1249C>T (p.Arg417Trp) | Missense | 0.005% | Impaired IFNG induction |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Thr166Ile) reduce transcriptional activity and Th1 differentiation.
Gain of Function (GOF)
Not well documented; no common gain-of-function variants reported.
Dominant Negative (DN)
p.Arg417Trp may interfere with wild-type T-bet function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • regulation of T-helper 1 cell differentiation | • positive regulation of interferon-gamma production |
| • immune system process |
Pathways
• Th1 and Th2 cell differentiation (KEGG hsa04658)
• T-cell receptor signaling pathway (KEGG hsa04660)
• Cytokine-cytokine receptor interaction (KEGG hsa04060)
Protein Summary
T-bet is a 535-amino acid protein containing a T-box DNA-binding domain. It localizes to the nucleus and activates Th1-specific genes (e.g., IFNG, CXCR3) while repressing Th2 (GATA3) and Th17 (RORC) programs. Post-translational modifications include phosphorylation and acetylation, modulating its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBX21 Knockout HEK293 Cell Line | EDJ-KQ9133 | Human | 30009 | Details Get a Quote |
| TBX21 Knockout HeLa Cell Line | EDJ-KQ56143 | Human | 30009 | Details Get a Quote |
| TBX21 Knockout A-549 Cell Line | EDJ-KQ64631 | Human | 30009 | Details Get a Quote |
| TBX21 Knockout HCT 116 Cell Line | EDJ-KQ73082 | Human | 30009 | Details Get a Quote |
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