• Gene id: 7080

Gene Summary

• Gene Symbol: NKX2-1   Gene   UCSC   Ensembl
• Aliases: BCH, BHC, NK-2, NKX2.1, NKX2A, NMTC1, T/EBP, TEBP, TITF1, TTF-1, TTF1
• Gene name: NK2 homeobox 1
• Alternate names: homeobox protein Nkx-2.1, NK-2 homolog A, homeobox protein NK-2 homolog A, thyroid nuclear factor 1, thyroid transcription factor 1, thyroid-specific enhancer-binding protein,
• Gene location: 14q13.3 (36520231: 36516396)     Exons: 3     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 618706

Protein Summary

• Protein general information: P43699  
  • Name: Homeobox protein Nkx 2.1 (Homeobox protein NK 2 homolog A) (Thyroid nuclear factor 1) (Thyroid transcription factor 1) (TTF 1) (Thyroid specific enhancer binding protein) (T/EBP)
  • Length: 371  
  • Mass: 38596
  • Tissue specificity: Thyroid and lung.
• Sequence:

  MSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPTAAMQQHAVGHHGAVTAAYHMTAAGV
  PQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMGPASGMNMSGMGGLGSLGDVS
  KNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYKMKRQAKDKAA
  QQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAA
  AAAISVGSGGAGLGAHPGHQPGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTMSCSTLLYGRTW

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000346879
• Other Databases: GeneCards:  NKX2-1  Malacards:  NKX2-1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001161	intronic transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0042753	positive regulation of circadian rhythm	ISS	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001161	intronic transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001161	intronic transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006644	phospholipid metabolic process	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0021537	telencephalon development	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0021795	cerebral cortex cell migration	IEA	biological process
GO:0021892	cerebral cortex GABAergic interneuron differentiation	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0030878	thyroid gland development	IEA	biological process
GO:0042753	positive regulation of circadian rhythm	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IEA	biological process
GO:0060430	lung saccule development	IEA	biological process
GO:0060486	club cell differentiation	IEA	biological process
GO:0060510	type II pneumocyte differentiation	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0021759	globus pallidus development	IEA	biological process
GO:0021798	forebrain dorsal/ventral pattern formation	IEA	biological process
GO:0021877	forebrain neuron fate commitment	IEA	biological process
GO:0021879	forebrain neuron differentiation	IEA	biological process
GO:0021895	cerebral cortex neuron differentiation	IEA	biological process
GO:0022029	telencephalon cell migration	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0031128	developmental induction	IEA	biological process
GO:0033327	Leydig cell differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0010719	negative regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0030878	thyroid gland development	IMP	biological process
GO:0030878	thyroid gland development	IEP	biological process
GO:0009725	response to hormone	IEP	biological process
GO:0007420	brain development	IMP	biological process
GO:0003677	DNA binding	IMP	molecular function
GO:0005654	nucleoplasm	ISS	cellular component
GO:0060441	epithelial tube branching involved in lung morphogenesis	IEP	biological process
GO:0030900	forebrain development	IEP	biological process
GO:0030324	lung development	IEP	biological process
GO:0030324	lung development	IEP	biological process
GO:0021759	globus pallidus development	IMP	biological process

Diseases

Associated diseases	References
Brain-lung-thyroid syndrome	KEGG:H00913
Brain-lung-thyroid syndrome	KEGG:H00913
choreatic disease	PMID:16220345
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray