AlphaFold predicted structure
NKX2-1 · P43699
Mean pLDDT
56.3/ 100
Low
371 residues
Confidence breakdown
- Very high(≥ 90)15%
- Confident(70–90)4%
- Low(50–70)26%
- Very low(< 50)55%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
NKX2-1
Chr 14q13.3NK2 homeobox 1
- Aliases:
- TTF-1, TTF1
- MANE:
- ENST00000354822.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedAtaxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedChildhood interstitial lung disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedChildhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCongenital hypothyroidism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial pulmonary fibrosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
brain-lung-thyroid syndrome
0.83Benign familial chorea
0.81choreatic disease
0.66hereditary disease
0.53neurodegenerative disease
0.51thyroid gland follicular carcinoma
0.49NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
0.46thyroid cancer, nonmedullary, 1
0.43non-small cell lung carcinoma
0.40Abnormality of the skeletal system
0.39
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
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)
Diseases associated with NKX2-1
Curated MONDO disease pages that list NKX2-1 among their top associated genes.