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NKX2-1

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].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
NK2 homeobox 1	MIM:600635	Ensembl:ENSG00000136352	HGNC:HGNC:11825	PA36531	14q13.3

Gene Categories:

TRANSCRIPTION FACTOR COMPLEX CLINICALLY ACTIONABLE

GO terms in NKX2-1

Term Type	Evidence Type	GO Term ID	GO Des.
MF	IDA	GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding
MF	ISS	GO:0000978	RNA polymerase II proximal promoter sequence-specific DNA binding
MF	ISS	GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding
MF	ISA	GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding
MF	ISM	GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding
MF	NAS	GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding
MF	IDA	GO:0001012	RNA polymerase II regulatory region DNA binding
MF	ISS	GO:0001161	intronic transcription regulatory region sequence-specific DNA binding
MF	IMP	GO:0003677	DNA binding
MF	IDA	GO:0003700	DNA-binding transcription factor activity
MF	IMP	GO:0003700	DNA-binding transcription factor activity
MF	IEA	GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
MF	IPI	GO:0005515	protein binding
MF	IPI	GO:0019899	enzyme binding
MF	IDA	GO:0044212	transcription regulatory region DNA binding
MF	IMP	GO:0044212	transcription regulatory region DNA binding
MF	IDA	GO:0044213	intronic transcription regulatory region DNA binding
CC	IDA	GO:0005634	nucleus
CC	ISS	GO:0005654	nucleoplasm
CC	IEA	GO:0005667	transcription factor complex
BP	IDA	GO:0000122	negative regulation of transcription by RNA polymerase II
BP	IEA	GO:0001764	neuron migration
BP	IEA	GO:0006351	transcription, DNA-templated
BP	IEA	GO:0006644	phospholipid metabolic process
BP	IEA	GO:0007411	axon guidance
BP	IMP	GO:0007420	brain development
BP	IEA	GO:0007492	endoderm development
BP	IEA	GO:0007626	locomotory behavior
BP	IEP	GO:0009725	response to hormone
BP	IDA	GO:0010628	positive regulation of gene expression
BP	IDA	GO:0010719	negative regulation of epithelial to mesenchymal transition
BP	IMP	GO:0021759	globus pallidus development
BP	IEA	GO:0021766	hippocampus development
BP	IEA	GO:0021795	cerebral cortex cell migration
BP	IEA	GO:0021798	forebrain dorsal/ventral pattern formation
BP	IEA	GO:0021877	forebrain neuron fate commitment
BP	IEA	GO:0021892	cerebral cortex GABAergic interneuron differentiation
BP	IEA	GO:0021983	pituitary gland development
BP	IEP	GO:0030324	lung development
BP	IDA	GO:0030336	negative regulation of cell migration
BP	IDA	GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway
BP	IEP	GO:0030878	thyroid gland development
BP	IMP	GO:0030878	thyroid gland development
BP	IEP	GO:0030900	forebrain development
BP	IEA	GO:0031128	developmental induction
BP	IEA	GO:0033327	Leydig cell differentiation
BP	ISS	GO:0042753	positive regulation of circadian rhythm
BP	ISS	GO:0045892	negative regulation of transcription, DNA-templated
BP	IDA	GO:0045893	positive regulation of transcription, DNA-templated
BP	IMP	GO:0045893	positive regulation of transcription, DNA-templated
BP	ISS	GO:0045893	positive regulation of transcription, DNA-templated
BP	IDA	GO:0045944	positive regulation of transcription by RNA polymerase II
BP	IEA	GO:0048511	rhythmic process
BP	IEA	GO:0048646	anatomical structure formation involved in morphogenesis
BP	IEA	GO:0048709	oligodendrocyte differentiation
BP	IEA	GO:0060430	lung saccule development
BP	IEP	GO:0060441	epithelial tube branching involved in lung morphogenesis
BP	IEA	GO:0060486	Clara cell differentiation
BP	IEA	GO:0060510	type II pneumocyte differentiation

Gene expression in normal tissue: NKX2-1

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NKX2-1

Database	Pathway ID	Pathway Des.
pid	hnf3bpathway	FOXA2 and FOXA3 transcription factor networks
wikipathways	WP2853	Endoderm Differentiation
wikipathways	WP3527	Preimplantation Embryo
wikipathways	WP3674	Tgif disruption of Shh signaling

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD121	GMX1778	5
iGMDRD219	Bax channel blocker	9
iGMDRD351	GW843682X	2
iGMDRD662	JQ-1	5
iGMDRD887	Compound 23 citrate	8
iGMDRD188	Piperlongumine	1
iGMDRD883	CIL55A	10
iGMDRD132	(-)-gallocatechin-3-O-gallate	3
iGMDRD435	BI-2536	5
iGMDRD322	FK 866	10
iGMDRD23	Gossypol	3
iGMDRD60	Quinoclamine	7
iGMDRD886	Compound 1541A	7
iGMDRD300	Tozasertib	10

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NKX2-1

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DATATYPES

CLASSFICATION

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