NKX2-1 Gene Summary [Human]
This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]
Details
| Type | Protein Coding |
| Official Symbol | NKX2-1 |
| Official Name | NK2 homeobox 1 [Source:HGNC Symbol;Acc:HGNC:11825] |
| Ensembl ID | ENSG00000136352 |
| Bio databases IDs | |
| Aliases | NK2 homeobox 1 |
| Synonyms | AV026640, BCH, BHC, NK-2, NK2 homeobox 1, NKX2.1, NKX2A, NMTC1, TEBP, T/EBP, TITF1, TTF-1 |
| 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 NKX2-1 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
- activation domain
- transcription regulator
- transcription co-activator
- nucleic acid binding
- enzyme binding
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- TATA-binding protein binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- homeodomain
- transcription factor activity
- CAD domain
- amino terminal activation domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- epithelial neoplasia
- head and neck neoplasia
- neoplasia
- epithelial cancer
- squamous cell cancer
- anaplastic thyroid carcinoma
- anaplastic thyroid cancer
- epithelial thyroid cancer
- small cell lung carcinoma
role in cell
- expression in
- apoptosis
- upregulation in
- cell death
- proliferation
- activation in
- transactivation in
- transcription in
- differentiation
- migration
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
- nuclear fraction
- nuclear foci
- nucleoplasm
- chromatin
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NKX2-1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial tube branching involved in lung morphogenesis
- Clara cell differentiation
- globus pallidus development
- endoderm development
- axon guidance
- forebrain dorsal/ventral pattern formation
- hypothalamus development
- forebrain neuron fate commitment
- phospholipid metabolic process
- positive regulation of transcription from RNA polymerase II promoter
- cerebral cortex GABAergic interneuron differentiation
- positive regulation of circadian rhythm
- cerebral cortex cell migration
- negative regulation of transcription from RNA polymerase II promoter
- locomotory behavior
- forebrain development
- negative regulation of epithelial to mesenchymal transition
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- lung development
- lung saccule development
- oligodendrocyte differentiation
- anatomical structure formation involved in morphogenesis
- regulation of transcription, DNA-dependent
- hippocampus development
- brain development
- Type II pneumocyte differentiation
- response to hormone stimulus
- pituitary gland development
- regulation of transcription from RNA polymerase II promoter
- thyroid gland development
- rhythmic process
- positive regulation of gene expression
- cell differentiation
- gene expression
- Leydig cell differentiation
- developmental induction
- negative regulation of transforming growth factor beta receptor signaling pathway
- negative regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- intronic transcription regulatory region sequence-specific DNA binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- enzyme binding