TBXT (T-Box Transcription Factor T)
Key regulator of mesoderm formation and notochord development; associated with sacral agenesis and chordoma
Gene Information Card
| Symbol | TBXT |
|---|---|
| Full Name | T-box transcription factor T |
| Gene Type | protein-coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 6862 ncbi.nlm.nih.gov/gene/6862 |
| Ensembl ID | ENSG00000164458 |
| UniProt ID | O15178 |
| OMIM ID | 601397 |
| HGNC ID | 11515 |
| Aliases | T, brachyury, SAVA |
Description
TBXT encodes a T-box transcription factor essential for mesoderm formation and notochord development. It acts as a transcriptional activator of genes involved in embryonic development, particularly in the posterior mesoderm and notochord. Mutations in TBXT are associated with sacral agenesis and chordoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sacral agenesis with vertebral anomalies | Loss-of-function mutations impair notochord development, leading to caudal agenesis | ClinVar, OMIM |
| Chordoma (familial) | Germline duplication of TBXT increases expression, promoting notochordal cell transformation | OMIM, COSMIC |
| Chordoma (sporadic) | Somatic mutations and copy number gains activate TBXT, driving tumorigenesis | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Thyroid | 0.1 | Low |
| Adipose tissue | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
| Chordoma cell line (U-CH1) | High | Overexpressed due to duplication |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1100C>T (p.Ala367Val) | Missense | Rare | Reduced DNA binding; associated with sacral agenesis |
| g.166540_166543dup (duplication) | Copy number gain | Familial chordoma | Increased TBXT expression |
| c.1138G>A (p.Gly380Arg) | Missense | Sporadic chordoma | Altered transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Ala367Val) reduce DNA-binding affinity and transcriptional activation, leading to sacral agenesis.
Gain of Function (GOF)
Duplication of TBXT increases gene dosage and protein expression, promoting chordoma development.
Dominant Negative (DN)
Not reported for TBXT.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Developmental Biology (Reactome: R-HSA-1266738)
• Transcriptional regulation by TBXT (Reactome: R-HSA-5617472)
Protein Summary
TBXT (brachyury) is a 435-amino acid T-box transcription factor that binds DNA via its conserved T-box domain. It forms homodimers and activates target genes essential for mesoderm and notochord formation. The protein is predominantly nuclear and expressed during early embryogenesis; its aberrant expression is a hallmark of chordoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBXT Knockout HEK293 Cell Line | EDJ-KQ5877 | Human | 6862 | Details Get a Quote |
| TBXT Knockout HeLa Cell Line | EDJ-KQ29370 | Human | 6862 | Details Get a Quote |
| TBXT Knockout A-549 Cell Line | EDJ-KQ61009 | Human | 6862 | Details Get a Quote |
| TBXT Knockout HCT 116 Cell Line | EDJ-KQ77891 | Human | 6862 | Details Get a Quote |
