TLX3 Gene Summary [Human]
The protein encoded by this gene is an orphan homeobox protein that encodes a DNA-binding nuclear transcription factor. A translocation [t(5;14)(q35;q32)] involving this gene is associated with T-cell acute lymphoblastic leukemia (T-ALL) in children and young adults. [provided by RefSeq, Nov 2015]
Details
| Type | Protein Coding |
| Official Symbol | TLX3 |
| Official Name | T cell leukemia homeobox 3 [Source:HGNC Symbol;Acc:HGNC:13532] |
| Ensembl ID | ENSG00000164438 |
| Bio databases IDs | |
| Aliases | T cell leukemia homeobox 3 |
| Synonyms | HOX11L2, RGD1564190, RNX, T cell leukaemia homeobox 3, T-cell leukaemia, homeobox 3, T cell leukemia homeobox 3, T-cell leukemia, homeobox 3, Tlx1l2 |
| 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 TLX3 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
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cyanosis
- dyspnea
- apnea
- T acute lymphoblastic leukemia
- respiratory failure
- tachypnea
role in cell
- differentiation
- migration
- abnormal morphology
- formation
- development
- specification
- innervation
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 TLX3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- GABAergic neuron differentiation
- neuron migration
- central nervous system development
- neuron fate specification
- negative regulation of neuron differentiation
- organ development
- regulation of respiratory gaseous exchange by neurological system process
- respiratory gaseous exchange
- regulation of transcription from RNA polymerase II promoter
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
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity