| Tbio | Homeobox protein Nkx-2.1 |
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. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptional repressor NR1D1 (By similarity).
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Chorea | 29 | 0.0 | 0.0 |
| Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress | 1 | 0.0 | 0.0 |
| Hernia, Diaphragmatic | 40 | 0.0 | 0.0 |
| Lung diseases | 50 | 0.0 | 0.0 |
| Thyroid cancer, papillary | 14 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| malignant mesothelioma | 3232 | 4.7e-09 |
| non-small cell lung cancer | 2890 | 2.4e-08 |
| lung cancer | 4740 | 1.9e-07 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cancer | 2499 | 5.397 | 2.7 |
| Hypothyroidism | 122 | 4.95 | 2.5 |
| Hemangioma | 69 | 3.613 | 1.8 |
| Lung disease | 142 | 3.571 | 1.8 |
| Goiter | 38 | 3.519 | 1.8 |
| Oxyphilic adenoma | 22 | 3.497 | 1.7 |
| Dyskinetic cerebral palsy | 5 | 3.293 | 1.6 |
| Congenital diaphragmatic hernia | 67 | 3.292 | 1.6 |
| Adenoma | 167 | 3.138 | 1.6 |
| Chromosome 14q11-q22 deletion syndrome | 3 | 3.106 | 1.6 |
| Papillary adenoma | 4 | 3.046 | 1.5 |
| Disease | Target Count |
|---|---|
| Brain-lung-thyroid syndrome | 1 |
| Chorea, Benign Hereditary | 3 |
| Thyroid Cancer, Nonmedullary, 1 | 2 |
| Disease | log2 FC | p |
|---|---|---|
| lung cancer | -5.800 | 1.9e-07 |
| malignant mesothelioma | 6.500 | 4.7e-09 |
| non-small cell lung cancer | -1.151 | 2.4e-08 |
MSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPTAAMQQHAVGHHGAVTAAYHM 1 - 70 TAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMGPASGMNMSGM 71 - 140 GGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQ 141 - 210 NHRYKMKRQAKDKAAQQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAA 211 - 280 SLQGHAQQQAQHQAQAAQAAAAAISVGSGGAGLGAHPGHQPGSAGQSPDLAHHAASPAALQGQVSSLSHL 281 - 350 NSSGSDYGTMSCSTLLYGRTW 351 - 371 //
