NKX2-1

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]

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).

Brain developmentManual Assertion Based On ExperimentIMP:UniProtKB
Cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Epithelial tube branching involved in lung morphogenesisManual Assertion Based On ExperimentIEP:UniProtKB
Forebrain developmentManual Assertion Based On ExperimentIEP:UniProtKB
Globus pallidus developmentManual Assertion Based On ExperimentIMP:UniProtKB
Lung developmentManual Assertion Based On ExperimentIEP:UniProtKB
Negative regulation of cell migrationManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of epithelial to mesenchymal transitionManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:MGI
Negative regulation of transcription, DNA-templatedISS:UniProtKB
Negative regulation of transforming growth factor beta receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of circadian rhythmISS:UniProtKB
Positive regulation of gene expressionManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:ComplexPortal
Response to hormoneManual Assertion Based On ExperimentIEP:UniProtKB
Rhythmic processIEA:UniProtKB-KW
Thyroid gland developmentManual Assertion Based On ExperimentIMP:UniProtKB

Nucleus

Chorea, hereditary benign (BHC):
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.
Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP):
An autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria.
Thyroid cancer, non-medullary, 1 (NMTC1):
A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms.

Phosphorylated on serine residues by STK3/MST2.