TBX1: T-Box Transcription Factor 1
Key regulator of pharyngeal arch development and cardiac outflow tract formation; associated with 22q11.2 deletion syndrome (DiGeorge syndrome).
Gene Information Card
| Symbol | TBX1 |
|---|---|
| Full Name | T-Box Transcription Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 6899 ncbi.nlm.nih.gov/gene/6899 |
| Ensembl ID | ENSG00000184009 |
| UniProt ID | O43435 |
| OMIM ID | 602054 |
| HGNC ID | 11592 |
| Aliases | T-box 1, CTHM, DGS, TBX1C, VCFS |
Description
TBX1 encodes a member of the T-box family of transcription factors, characterized by a conserved DNA-binding domain (T-box). This protein is essential for embryonic development, particularly of the pharyngeal arches, cardiac outflow tract, thymus, parathyroid glands, and craniofacial structures. Haploinsufficiency of TBX1 is the primary genetic cause of 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). TBX1 regulates gene expression by binding to T-box elements in target gene promoters, influencing cell proliferation, differentiation, and migration during development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 22q11.2 deletion syndrome (DiGeorge syndrome) | Haploinsufficiency due to heterozygous deletion of TBX1 disrupts pharyngeal arch development, leading to cardiac, thymic, parathyroid, and craniofacial anomalies. | OMIM #188400; ClinVar; multiple peer-reviewed studies |
| Velocardiofacial syndrome | Overlapping phenotype with 22q11.2 deletion; TBX1 loss-of-function mutations identified in non-deleted patients. | OMIM #192430; ClinVar |
| Conotruncal heart defects | TBX1 mutations impair cardiac outflow tract septation and aortic arch development. | OMIM #217095; NCBI GeneReviews |
| Isolated tetralogy of Fallot | Rare TBX1 missense variants associated with sporadic tetralogy of Fallot. | ClinVar; literature reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 5.2 | Low |
| Skeletal muscle | 2.1 | Not detected |
| Brain | 1.8 | Not detected |
| Thymus | 8.7 | Medium |
| Parathyroid | 12.4 | Medium |
| Pharyngeal arches (fetal) | 45.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.1 | Low expression |
| K562 | 1.2 | Not detected |
| HepG2 | 0.8 | Not detected |
| A549 | 2.5 | Low expression |
| MCF7 | 1.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1223delC (p.Pro408LeufsTer49) | Frameshift | Rare | Loss of function; associated with 22q11.2 deletion syndrome phenotype |
| c.835C>T (p.Arg279Trp) | Missense | Rare | Reduced DNA-binding affinity; dominant negative effect |
| c.1129G>A (p.Gly377Ser) | Missense | Rare | Impaired transcriptional activation; associated with conotruncal heart defects |
| c.1445G>A (p.Arg482Gln) | Missense | Rare | Decreased nuclear localization; loss of function |
Mutation functional classification
Loss of Function (LOF)
Haploinsufficiency due to deletions or truncating mutations is the primary mechanism in 22q11.2 deletion syndrome. Missense mutations that reduce DNA binding or transactivation also cause loss of function.
Gain of Function (GOF)
Not reported for TBX1; no activating mutations described in literature.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg279Trp) exhibit dominant negative effects by forming nonfunctional dimers or competing for DNA binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• T-box transcription factor pathway
• Pharyngeal arch development
• Cardiac neural crest cell migration
• 22q11.2 deletion syndrome pathway
Protein Summary
TBX1 is a 495-amino acid transcription factor containing a conserved T-box DNA-binding domain (residues 105–285). It forms homodimers and heterodimers with other T-box proteins to regulate target gene expression. The protein localizes to the nucleus and is expressed in pharyngeal arches, heart, thymus, and parathyroid glands during embryogenesis. Post-translational modifications include phosphorylation, which modulates its transcriptional activity. TBX1 interacts with cofactors such as GATA4, NKX2-5, and MEF2C to orchestrate developmental gene programs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBX1 Knockout HEK293 Cell Line | EDJ-KQ935 | Human | 6899 | Details Get a Quote |
| TBX15 Knockout HEK293 Cell Line | EDJ-KQ3568 | Human | 6913 | Details Get a Quote |
| TBX18 Knockout HEK293 Cell Line | EDJ-KQ5785 | Human | 9096 | Details Get a Quote |
| TBX10 Knockout HEK293 Cell Line | EDJ-KQ5888 | Human | 347853 | Details Get a Quote |
| TBX19 Knockout HEK293 Cell Line | EDJ-KQ6461 | Human | 9095 | Details Get a Quote |
| TBX1 Knockout A-549 Cell Line | EDJ-KQ19915 | Human | 6899 | Details Get a Quote |
| TBX1 Knockout HeLa Cell Line | EDJ-KQ19916 | Human | 6899 | Details Get a Quote |
| TBX15 Knockout HeLa Cell Line | EDJ-KQ25437 | Human | 6913 | Details Get a Quote |
| TBX18 Knockout A-549 Cell Line | EDJ-KQ30539 | Human | 9096 | Details Get a Quote |
| TBX18 Knockout HCT 116 Cell Line | EDJ-KQ30541 | Human | 9096 | Details Get a Quote |
| TBX19 Knockout HCT 116 Cell Line | EDJ-KQ30545 | Human | 9095 | Details Get a Quote |
| TBX19 Knockout HeLa Cell Line | EDJ-KQ30546 | Human | 9095 | Details Get a Quote |
| TBX18 Knockout HeLa Cell Line | EDJ-KQ55084 | Human | 9096 | Details Get a Quote |
| TBX10 Knockout HeLa Cell Line | EDJ-KQ59830 | Human | 347853 | Details Get a Quote |
| TBX15 Knockout A-549 Cell Line | EDJ-KQ63100 | Human | 6913 | Details Get a Quote |
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