TLX2 Gene Summary [Human]
This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010]
Details
| Type | Processed Transcript |
| Official Symbol | TLX2 |
| Official Name | T cell leukemia homeobox 2 [Source:HGNC Symbol;Acc:HGNC:5057] |
| Ensembl ID | ENSG00000115297 |
| Bio databases IDs | |
| Aliases | T cell leukemia homeobox 2 |
| Synonyms | Enx, HOX11L1, Hox11L.1, LOC684889, NCX, Ncx1, T cell leukaemia, homeobox 2, T-cell leukaemia homeobox 2, T cell leukemia, homeobox 2, T-cell leukemia homeobox 2, Tlx1l1, 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 TLX2 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
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
- DNA binding
Pathways
Biological processes and signaling networks where the TLX2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- head and neck squamous cell cancer
- diffuse large B-cell lymphoma
- head and neck squamous cell carcinoma
- urothelial bladder carcinoma
- cervical cancer
- squamous cell lung cancer
- lung squamous cell carcinoma
- renal cell cancer
- gastric adenocarcinoma
- gastric epithelial cancer
regulates
- DNA promoter
- DNA endogenous promoter
- RNA polymerase II
role in cell
- abnormal morphology
- morphogenesis
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
- Cytoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TLX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of dendrite morphogenesis
- enteric nervous system development
- organ development
- mesoderm formation
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity