TBX4 Gene Summary [Human]
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TBX4 |
| Official Name | T-box transcription factor 4 [Source:HGNC Symbol;Acc:HGNC:11603] |
| Ensembl ID | ENSG00000121075 |
| Bio databases IDs | |
| Aliases | T-box transcription factor 4 |
| Synonyms | 3930401C23, ICPPS, PAPPAS, SPS, T-box 4, T-box transcription factor 4 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TBX4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- T-box
- DNA-binding domain of the T-box transcription factor family
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- posterior amelia with pelvic and pulmonary hypoplasia syndrome
- small patella syndrome
- primary pulmonary hypertension 1
- pulmonary hypertensive arterial disease
- pulmonary arterial hypertension associated with congenital heart disease
- bleeding
- colon carcinoma
- colon epithelial cancer
- developmental delay
- ischiocoxopodopatellar syndrome with pulmonary arterial hypertension
role in cell
- remodeling
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBX4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of transcription, DNA-dependent
- angiogenesis
- morphogenesis of an epithelium
- limb morphogenesis
- cell fate specification
- skeletal system morphogenesis
- embryonic hindlimb morphogenesis
- regulation of transcription from RNA polymerase II promoter
- lung development
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity