Summary: 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].

NK2 homeobox 1MIM:600635Ensembl:ENSG00000136352HGNC:HGNC:11825PA3653114q13.3

GO terms in NKX2-1

Term TypeEvidence TypeGO Term IDGO Des.
MFIDAGO:0000977RNA polymerase II regulatory region sequence-specific DNA binding
MFISSGO:0000978RNA polymerase II proximal promoter sequence-specific DNA binding
MFISSGO:0000980RNA polymerase II distal enhancer sequence-specific DNA binding
MFISAGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFISMGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFNASGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFIDAGO:0001012RNA polymerase II regulatory region DNA binding
MFISSGO:0001161intronic transcription regulatory region sequence-specific DNA binding
MFIMPGO:0003677DNA binding
MFIDAGO:0003700DNA-binding transcription factor activity
MFIMPGO:0003700DNA-binding transcription factor activity
MFIEAGO:0003705transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
MFIPIGO:0005515protein binding
MFIPIGO:0019899enzyme binding
MFIDAGO:0044212transcription regulatory region DNA binding
MFIMPGO:0044212transcription regulatory region DNA binding
MFIDAGO:0044213intronic transcription regulatory region DNA binding
CCIEAGO:0005667transcription factor complex
BPIDAGO:0000122negative regulation of transcription by RNA polymerase II
BPIEAGO:0001764neuron migration
BPIEAGO:0006351transcription, DNA-templated
BPIEAGO:0006644phospholipid metabolic process
BPIEAGO:0007411axon guidance
BPIMPGO:0007420brain development
BPIEAGO:0007492endoderm development
BPIEAGO:0007626locomotory behavior
BPIEPGO:0009725response to hormone
BPIDAGO:0010628positive regulation of gene expression
BPIDAGO:0010719negative regulation of epithelial to mesenchymal transition
BPIMPGO:0021759globus pallidus development
BPIEAGO:0021766hippocampus development
BPIEAGO:0021795cerebral cortex cell migration
BPIEAGO:0021798forebrain dorsal/ventral pattern formation
BPIEAGO:0021877forebrain neuron fate commitment
BPIEAGO:0021892cerebral cortex GABAergic interneuron differentiation
BPIEAGO:0021983pituitary gland development
BPIEPGO:0030324lung development
BPIDAGO:0030336negative regulation of cell migration
BPIDAGO:0030512negative regulation of transforming growth factor beta receptor signaling pathway
BPIEPGO:0030878thyroid gland development
BPIMPGO:0030878thyroid gland development
BPIEPGO:0030900forebrain development
BPIEAGO:0031128developmental induction
BPIEAGO:0033327Leydig cell differentiation
BPISSGO:0042753positive regulation of circadian rhythm
BPISSGO:0045892negative regulation of transcription, DNA-templated
BPIDAGO:0045893positive regulation of transcription, DNA-templated
BPIMPGO:0045893positive regulation of transcription, DNA-templated
BPISSGO:0045893positive regulation of transcription, DNA-templated
BPIDAGO:0045944positive regulation of transcription by RNA polymerase II
BPIEAGO:0048511rhythmic process
BPIEAGO:0048646anatomical structure formation involved in morphogenesis
BPIEAGO:0048709oligodendrocyte differentiation
BPIEAGO:0060430lung saccule development
BPIEPGO:0060441epithelial tube branching involved in lung morphogenesis
BPIEAGO:0060486Clara cell differentiation
BPIEAGO:0060510type II pneumocyte differentiation

Gene expression in normal tissue: NKX2-1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NKX2-1

DatabasePathway IDPathway Des.
pidhnf3bpathwayFOXA2 and FOXA3 transcription factor networks
wikipathwaysWP2853Endoderm Differentiation
wikipathwaysWP3527Preimplantation Embryo
wikipathwaysWP3674Tgif disruption of Shh signaling

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.
iGMDRD219Bax channel blocker9
iGMDRD887Compound 23 citrate8
iGMDRD322FK 86610
iGMDRD886Compound 1541A7

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NKX2-1