Tbx4 Gene Summary [Mouse]
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including angiogenesis; embryonic limb morphogenesis; and lung development. Predicted to be active in chromatin and nucleus. Is expressed in several structures, including central nervous system; early conceptus; embryo mesenchyme; genitourinary system; and limb. Human ortholog(s) of this gene implicated in arthropathy and ischiocoxopodopatellar syndrome. Orthologous to human TBX4 (T-box transcription factor 4). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Tbx4 |
| Official Name | T-box 4 [Source:MGI Symbol;Acc:MGI:102556] |
| Ensembl ID | ENSMUSG00000000094 |
| Bio databases IDs | |
| Aliases | T-box 4 |
| Synonyms | 3930401C23, ICPPS, PAPPAS, SPS, T-box 4, T-box transcription factor 4 |
| Species | Mouse, Mus musculus |
| 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 mouse 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 mouse 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