Gene content
Symbol	NKX2-1 ( by HUGO)
Name	NK2 Homeobox 1
Category	Oncogene
Alias	NK2 Homeobox 1 NKX2A TITF1 Thyroid Transcription Factor 1 TTF1 BCH Homeobox Protein NK-2 Homolog A Thyroid Nuclear Factor 1 TTF-1 Benign Chorea BHC NK-2 NKX2.1 TEBP Homeobox Protein Nkx-2.1 NK-2 Homolog A
Cytogenetic band	NCBI: 14q13    Ensembl: 14q13.3
Protein information	NKX21_HUMAN Size: 371 amino acids Mass: 38596 Da Subunit: Interacts with WWTR1 Sequence caution: Sequence=AAH06221.2; Type=Erroneous initiation; Sequence=BAA23527.1; Type=Erroneous gene model prediction; Tissue specificity: Thyroid and lung [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including NKX2-1: Lung Cancer in human mouse rat Diabetes in human mouse rat Homeobox (HOX) Genes in human mouse rat Primer Products: [IMAGE] OriGene qPCR primer pairs and template Function: UniProtKB/Swiss-Prot Summary: NKX21_HUMAN, P43699 Function: Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis Gene Ontology (GO): Selected molecular function terms (see all 6): About this table GO ID Qualified GO term Evidence PubMed IDs GO:0003677 DNA binding IMP 7635972 GO:0003700 sequence-specific DNA binding transcription factor activity IDA 16960125 GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA -- GO:0005515 protein binding IPI 11152647 GO:0043565 sequence-specific DNA binding IEA -- [IMAGE] Find genes that share ontologies with NKX2-1 About GenesLikeMe Phenotypes: Similarity: Belongs to the NK-2 homeobox family                        Contains 1 homeobox DNA-binding domain [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR001356	Homeobox_dom	Homeobox	Domain
	IPR009057	Homeodomain-like	Homeodomain-like	Domain

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	brain development	IMP	GOA	11971878
	epithelial tube branching involved in lung morphogenesis	IEP	GOA	8675988
	forebrain development	IEP	GOA	15494458
	globus pallidus development	IMP	GOA	11854319
	lung development	IEP	GOA	15494458
	negative regulation of cell migration	IDA	GOA	19293183
	negative regulation of epithelial to mesenchymal transition	IDA	GOA	19293183
	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	GOA	19293183
	positive regulation of gene expression	IDA	GOA	16960125
	positive regulation of transcription from RNA polymerase II promoter	IDA	GOA	16960125
	positive regulation of transcription, DNA-templated	IDA	GOA	14960358
	response to hormone	IEP	GOA	16960125
	thyroid gland development	IMP	GOA	11854319
	thyroid gland development	IEP	GOA	15494458
Cellular Component	nucleus	IDA	GOA	7713914
Molecular Function	DNA binding	IMP	GOA	7635972
	protein binding	IPI	GOA	11152647
	sequence-specific DNA binding transcription factor activity	IDA	GOA	16960125
	transcription regulatory region DNA binding	IDA	GOA	14960358

Disorder & Mutation
Source	Disease
SWISS-PROT	Chorea, hereditary benign (BHC) [MIM:118700]: A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Note=The disease is caused by mutations affecting the gene represented in this entry

NKX2-1 cross reference
PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene