NKX2-1 Chromosome 14
NK2 homeobox 1
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What This Gene Does
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]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
14q13.3
Ensembl
ENSG00000136352
Associated Conditions (13)
Inborn genetic diseases
Benign hereditary chorea
Brain-lung-thyroid syndrome
Thyroid cancer
nonmedullary
1
NKX2-1-related disorder
Interstitial lung disease 2
Multiple myeloma
See cases
Neurodevelopmental disorder
Hereditary ataxia
Chorea
Key Variants
RS1325836054
Conflicting classifications of pathogenicity
Inborn genetic diseases, Benign hereditary chorea, Inborn genetic diseases
Health Risk
RS1465370806
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555349218
Conflicting classifications of pathogenicity
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
Health Risk
RS1555349228
Conflicting classifications of pathogenicity
Health Risk
RS200560568
Conflicting classifications of pathogenicity
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
Health Risk
RS201631950
Conflicting classifications of pathogenicity
Benign hereditary chorea, Brain-lung-thyroid syndrome, Benign hereditary chorea
Health Risk
RS537209983
Conflicting classifications of pathogenicity
Benign hereditary chorea, Brain-lung-thyroid syndrome, Thyroid cancer
Health Risk
RS577015120
Conflicting classifications of pathogenicity
Brain-lung-thyroid syndrome, NKX2-1-related disorder, Brain-lung-thyroid syndrome
Health Risk
RS762575015
Conflicting classifications of pathogenicity
Health Risk
RS773410433
Conflicting classifications of pathogenicity
Interstitial lung disease 2, Interstitial lung disease 2
Health Risk
RS886050481
Conflicting classifications of pathogenicity
Benign hereditary chorea, Brain-lung-thyroid syndrome, Benign hereditary chorea
Health Risk
RS886050484
Conflicting classifications of pathogenicity
Benign hereditary chorea, Brain-lung-thyroid syndrome, Benign hereditary chorea
Health Risk
All Variants (110)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555349214 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Neurodevelopmental disorder, Benign hereditary chorea |
| RS1594403990 | Health Risk | Pathogenic/Likely pathogenic | Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS1881107186 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Brain-lung-thyroid syndrome, Inborn genetic diseases |
| RS1881285635 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2139408360 | Health Risk | Pathogenic/Likely pathogenic | Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502626171 | Health Risk | Pathogenic/Likely pathogenic | Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS28936671 | Health Risk | Pathogenic/Likely pathogenic | Benign hereditary chorea, Brain-lung-thyroid syndrome, Benign hereditary chorea |
| RS587776709 | Health Risk | Pathogenic/Likely pathogenic | Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS760880632 | Health Risk | Pathogenic/Likely pathogenic | Hereditary ataxia, Chorea, Brain-lung-thyroid syndrome |
| RS775015070 | Health Risk | Pathogenic/Likely pathogenic | Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |