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Protein Page:
NKX2-1 (human)

NKX2-1 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. Defects in NKX2-1 are the cause of benign hereditary chorea (BHC); also known as hereditary chorea without dementia. BHC is an autosomal dominant movement disorder. The early onset of symptoms (usully before the age of 5) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. BHC is non-progressive and patients have normal or slightly below normal intelligence. There is considerable inter- and intrafamilial variability, including dysarthria, axial distonia and gait disturbances. Defects in NKX2-1 are the cause of choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD). This syndrome include neurological, thyroid, and respiratory problems. Belongs to the NK-2 homeobox family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 14q13
Cellular Component: nucleoplasm; nucleus
Molecular Function: DNA binding; enzyme binding; protein binding; transcription factor activity
Biological Process: brain development; forebrain development; globus pallidus development; lung development; negative regulation of cell migration; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of circadian rhythm; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; response to hormone stimulus; thyroid gland development
Disease: Chorea, Benign Hereditary; Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction; Thyroid Carcinoma, Papillary
Reference #:  P43699 (UniProtKB)
Alt. Names/Synonyms: BCH; BHC; Homeobox protein NK-2 homolog A; Homeobox protein Nkx-2.1; NK-2; NK-2 homolog A; NK2 homeobox 1; NKX2-1; NKX2.1; NKX21; NKX2A; TEBP; Thyroid nuclear factor 1; Thyroid transcription factor 1; TITF1; TTF-1; TTF1
Gene Symbols: NKX2-1
Molecular weight: 38,596 Da
Basal Isoelectric point: 9.72  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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