Gene: NKX2-1

Alternate names for this Gene: BCH|BHC|NK-2|NKX2.1|NKX2A|NMTC1|T/EBP|TEBP|TITF1|TTF-1|TTF1

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q13.3

Description of this Gene: NK2 homeobox 1

Type of Gene: protein-coding

Gene: NKX2-1-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 14

Location in Chromosome : 14q13.3

Description of this Gene: NKX2-1 antisense RNA 1

Type of Gene: ncRNA

Gene: SFTA3

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs137852692 in NKX2-1;NKX2-1-AS1;SFTA3 gene and Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress PMID 11854319 2002 Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

PMID 11854318 2002 Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.

PMID 24714694 2014 Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

PMID 15955952 2005 A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.

PMID 15289765 2004 Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

rs537209983 in NKX2-1;NKX2-1-AS1;SFTA3 gene and THYROID CANCER, NONMEDULLARY, 1 PMID 19176457 2009 A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma.