Aliases for NKX2-1 Gene
External Ids for NKX2-1 Gene
Previous HGNC Symbols for NKX2-1 Gene
Previous GeneCards Identifiers for NKX2-1 Gene
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]
GeneCards Summary for NKX2-1 Gene
NKX2-1 (NK2 Homeobox 1) is a Protein Coding gene. Diseases associated with NKX2-1 include Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction and Chorea, Benign Hereditary. Among its related pathways are Circadian rythm related genes and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and enzyme binding. An important paralog of this gene is NKX2-4.
UniProtKB/Swiss-Prot for NKX2-1 Gene
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).