TBX4 Gene - T-Box Transcription Factor 4
Key regulator of limb and cardiac development, associated with small patella syndrome and pulmonary hypertension
Gene Information Card
| Symbol | TBX4 |
|---|---|
| Full Name | T-Box Transcription Factor 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q23.2 |
| NCBI Gene ID | 9496 ncbi.nlm.nih.gov/gene/9496 |
| Ensembl ID | ENSG00000121060 |
| UniProt ID | O75342 |
| OMIM ID | 601719 |
| HGNC ID | 11601 |
| Aliases | SPS, T-box4, TBX4A |
Description
TBX4 encodes a member of the T-box family of transcription factors, characterized by a conserved DNA-binding domain. This protein plays a critical role in embryonic development, particularly in limb bud formation, cardiac outflow tract septation, and hindlimb identity. Mutations in TBX4 are associated with small patella syndrome (SPS) and heritable pulmonary arterial hypertension (PAH).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Small Patella Syndrome (SPS) | Loss-of-function mutations in TBX4 disrupt hindlimb development, leading to patellar aplasia/hypoplasia and pelvic anomalies. | OMIM #147891 |
| Heritable Pulmonary Arterial Hypertension (PAH) | Heterozygous TBX4 mutations impair pulmonary vascular development and endothelial function, contributing to vascular remodeling. | ClinVar; PMID: 23915320 |
| Isolated Congenital Heart Defects | TBX4 haploinsufficiency affects cardiac outflow tract septation, resulting in ventricular septal defects or tetralogy of Fallot. | OMIM; PMID: 20807224 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 8.3 | Low |
| Skeletal Muscle | 6.1 | Low |
| Placenta | 4.7 | Low |
| Kidney | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung carcinoma) | 5.8 | Moderate expression |
| HepG2 (Liver carcinoma) | 2.1 | Low expression |
| K562 (Leukemia) | 1.0 | Not detected |
| MCF7 (Breast carcinoma) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1138C>T (p.Arg380*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.916_917del (p.Leu306Valfs*12) | Frameshift | Rare | Loss of function; premature stop codon |
| c.124G>A (p.Gly42Arg) | Missense | Rare | Dominant negative; impaired DNA binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to haploinsufficiency are common in SPS and PAH.
Gain of Function (GOF)
Not reported for TBX4.
Dominant Negative (DN)
Missense mutations in the T-box domain (e.g., p.Gly42Arg) can interfere with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• T-box transcription factor pathway
• Limb development pathway
• TGF-beta signaling pathway (indirect)
Protein Summary
TBX4 is a 549-amino acid transcription factor containing a conserved T-box DNA-binding domain. It localizes to the nucleus and regulates target genes involved in cell proliferation, differentiation, and patterning during embryogenesis. The protein is essential for hindlimb identity and pulmonary vascular development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBX4 Knockout HEK293 Cell Line | EDJ-KQ6608 | Human | 9496 | Details Get a Quote |
| TBX4 Knockout HeLa Cell Line | EDJ-KQ55179 | Human | 9496 | Details Get a Quote |
| TBX4 Knockout A-549 Cell Line | EDJ-KQ63659 | Human | 9496 | Details Get a Quote |
| TBX4 Knockout HCT 116 Cell Line | EDJ-KQ72119 | Human | 9496 | Details Get a Quote |
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