TBX18 Gene Summary [Human]
This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]
Details
| Type | Retained Intron |
| Official Symbol | TBX18 |
| Official Name | T-box transcription factor 18 [Source:HGNC Symbol;Acc:HGNC:11595] |
| Ensembl ID | ENSG00000112837 |
| Bio databases IDs | |
| Aliases | T-box transcription factor 18 |
| Synonyms | 2810012F10Rik, 2810404D13Rik, CAKUT2, PUJO, T-box18, T-box transcription factor 18 |
| 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 TBX18 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
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- T-box
- double-stranded DNA binding
- nucleic acid binding
- DNA-binding domain of the T-box transcription factor family
- protein homodimerization
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- T-box domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congenital anomalies of kidney and urinary tract 2
- diabetic nephropathy
- schizophrenia
- hydronephrosis
- congenital anomalies of kidney and urinary tract
role in cell
- expression in
- differentiation
- proliferation
- localization
- beat
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBX18 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural plate anterior/posterior regionalization
- cochlea morphogenesis
- sinoatrial node development
- sinoatrial node cell fate commitment
- regulation of transcription from RNA polymerase II promoter
- sinoatrial node cell development
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of canonical Wnt receptor signaling pathway
- smooth muscle cell differentiation
- positive regulation of transcription, DNA-dependent
- somitogenesis
- ureter development
- morphogenesis of embryonic epithelium
- cell fate specification
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity