TBX19 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. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TBX19 |
| Official Name | T-box transcription factor 19 [Source:HGNC Symbol;Acc:HGNC:11596] |
| Ensembl ID | ENSG00000143178 |
| Bio databases IDs | |
| Aliases | T-box transcription factor 19, TBS 19 |
| Synonyms | D1Ertd754e, dJ747L4.1, T-box 19, T-box protein 19, T-box transcription factor 19, TBS19, TPIT |
| 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 TBX19 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 regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- T-box
- nucleic acid binding
- double-stranded DNA binding
- DNA-binding domain of the T-box transcription factor family
- protein binding
- sequence-specific DNA binding
- transcription factor activity
- T-box domain
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- metastasis
- liver cancer
- epithelial cancer
- adrenocorticotropic hormone (ACTH) deficiency
- organismal death
- hereditary disorder
- duodenitis
- isolated ACTH deficiency
role in cell
- differentiation
- accumulation
- expression in
- proliferation
- maturation
- commitment
- transcription in
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 TBX19 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart morphogenesis
- regulation of cell differentiation
- anatomical structure morphogenesis
- mesoderm formation
- positive regulation of transcription from RNA polymerase II promoter
- cell fate specification
- regulation of cell proliferation
- regulation of transcription from RNA polymerase II promoter
- pituitary gland 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
- protein binding
- 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 positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity