Nkx2-1 Gene Summary [Mouse]
Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and intronic transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including hypothalamus development; positive regulation of circadian rhythm; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including lung development; nervous system development; and regulation of transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; brain; neural ectoderm; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in choreatic disease and papillary thyroid carcinoma. Orthologous to human NKX2-1 (NK2 homeobox 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Nkx2-1 |
| Official Name | NK2 homeobox 1 [Source:MGI Symbol;Acc:MGI:108067] |
| Ensembl ID | ENSMUSG00000001496 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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
phenotypes
- abnormal Leydig cell morphology
- abnormal Rathke's pouch apoptosis
- abnormal Rathke's pouch development
- abnormal adenohypophysis development
- abnormal adrenal cortex morphology
- abnormal branching involved in lung morphogenesis
- abnormal bronchus epithelium morphology
- abnormal bronchus morphology
- abnormal diencephalon morphology
- abnormal forebrain morphology
- abnormal foregut morphology
- abnormal hypothalamus morphology
- abnormal lung development
- abnormal lung epithelium morphology
- abnormal lung morphology
- abnormal lung saccule morphology
- abnormal lung vasculature morphology
- abnormal mesenchymal cell differentiation involved in lung development
- abnormal pituitary gland development
- abnormal pleural cavity morphology
- abnormal pulmonary acinus morphology
- abnormal pulmonary alveolar parenchyma morphology
- abnormal pulmonary alveolus epithelial cell morphology
- abnormal pulmonary circulation
- abnormal testes secretion
- abnormal thoracic cavity morphology
- abnormal thyroid follicle morphology
- abnormal thyroid gland development
- abnormal trachea morphology
- abnormal tracheal cartilage morphology
- abnormal type II pneumocyte morphology
- abnormal ventromedial hypothalamic nucleus morphology
- absent infundibular recess of third ventricle
- absent pituitary gland
- absent pituitary infundibular stalk
- absent thyroid gland
- absent type II pneumocytes
- decreased fetal weight
- decreased lung weight
- decreased surfactant secretion
- decreased testis weight
- decreased tracheal cartilage ring number
- decreased ventromedial hypothalamic nucleus size
- dilated respiratory conducting tubes
- impaired branching involved in bronchus morphogenesis
- impaired branching involved in respiratory bronchiole morphogenesis
- impaired coordination
- increased circulating thyroid-stimulating hormone level
- neonatal lethality complete penetrance
- no abnormal phenotype detected
- pulmonary hypoplasia
- respiratory failure
- small thyroid gland
- tracheoesophageal fistula
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 mouse 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