NKX2-1 gene

NK2 homeobox 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Papillary thyroid carcinoma
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Benign hereditary chorea

From UniProt:

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. [MIM:188550]

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. [MIM:118700]

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. [MIM:610978]

Cytogenetic Location: 14q13.3, which is the long (q) arm of chromosome 14 at position 13.3

Molecular Location: base pairs 36,516,397 to 36,520,225 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q13.3, which is the long (q) arm of chromosome 14 at position 13.3
  • BCH
  • BHC
  • NK-2
  • NKX2.1
  • NKX2A
  • NMTC1
  • T/EBP
  • TEBP
  • TITF1
  • TTF-1
  • TTF1