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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NKX2-1
NK2 homeobox 1
Chromosome 14 Β· 14q13.3
NCBI Gene: 7080Ensembl: ENSG00000136352.20HGNC: HGNC:11825UniProt: P43699
335PubMed Papers
23Diseases
0Drugs
121Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of transcription by RNA polymerase IItranscription cis-regulatory region bindingRNA polymerase II transcription regulatory region sequence-specific DNA bindingbrain developmentbrain-lung-thyroid syndromeBenign familial choreachoreagenetic disorder
✦AI Summary

NKX2-1 (NK2 homeobox 1) is a critical transcription factor that functions as a lineage-specific regulator with diverse roles in development and disease. In normal physiology, NKX2-1 serves as a master regulator of thyroid differentiation, binding and activating promoters of thyroid-specific genes including thyroglobulin, thyroperoxidase, and thyrotropin receptor 1. Mechanistically, NKX2-1 acts as a pioneer transcription factor that binds gene promoters and interacts with other transcription factors through chr14 looping to regulate gene expression 2. The protein demonstrates dosage-dependent regulation, with amplification events controlling its oncogenic functions through super-enhancer targeting 3. NKX2-1 plays crucial roles in multiple disease contexts. In congenital hypothyroidism, heterozygous mutations in NKX2-1 cause thyroid dysgenesis 1, while mutations also lead to benign hereditary chorea, representing a key gene in this movement disorder syndrome 4. In cancer, NKX2-1 functions as both a tumor suppressor and oncogene depending on context. In lung adenocarcinoma, NKX2-1 suppression promotes tumor progression by activating neutrophil recruitment through CXCLs/CXCR2 signaling 5, while also driving metabolic rewiring through serine/glycine synthesis addiction 6. Additionally, NKX2-1 drives neuroendocrine transdifferentiation in prostate cancer through epigenetic remodeling 2 and cooperates with circular RNA circRMST in neuroendocrine differentiation 7.

Sources cited
1
NKX2-1 mutations cause thyroid dysgenesis leading to congenital hypothyroidism
PMID: 29650690
2
NKX2-1 mutations are associated with benign hereditary chorea
PMID: 31356291
3
NKX2-1 suppression in lung adenocarcinoma activates neutrophil recruitment through CXCLs/CXCR2 signaling
PMID: 39113226
4
NKX2-1 drives neuroendocrine transdifferentiation through chromatin looping and epigenetic remodeling
PMID: 40691407
5
NKX2-1 transcriptionally upregulates serine/glycine synthesis enzymes driving metabolic addiction in cancer
PMID: 36932191
6
NKX2-1 amplification targets super-enhancers and demonstrates dosage-dependent oncogenic regulation
PMID: 40139189
7
NKX2-1 cooperates with circRMST in neuroendocrine transdifferentiation
PMID: 40250444
Disease Associationsβ“˜23
brain-lung-thyroid syndromeOpen Targets
0.83Strong
Benign familial choreaOpen Targets
0.81Strong
choreaOpen Targets
0.76Strong
genetic disorderOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
papillary thyroid carcinomaOpen Targets
0.50Moderate
follicular thyroid carcinomaOpen Targets
0.49Moderate
Abnormality of the skeletal systemOpen Targets
0.44Moderate
thyroid cancer, nonmedullary, 1Open Targets
0.43Moderate
familial papillary or follicular thyroid carcinomaOpen Targets
0.42Moderate
intelligenceOpen Targets
0.41Moderate
non-small cell lung carcinomaOpen Targets
0.39Weak
newborn respiratory distress syndromeOpen Targets
0.38Weak
gastric carcinomaOpen Targets
0.38Weak
congenital hypothyroidismOpen Targets
0.37Weak
head and neck squamous cell carcinomaOpen Targets
0.37Weak
neuroendocrine cell hyperplasia of infancyOpen Targets
0.37Weak
Abnormality of the nervous systemOpen Targets
0.37Weak
Recurrent respiratory infectionsOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
Chorea, hereditary benignUniProt
Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunctionUniProt
Thyroid cancer, non-medullary, 1UniProt
Pathogenic Variants121
NM_001079668.3(NKX2-1):c.1045dup (p.His349fs)Pathogenic
Brain-lung-thyroid syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 349
NM_001079668.3(NKX2-1):c.464-9C>APathogenic
Brain-lung-thyroid syndrome|not provided
β˜…β˜…β˜†β˜†2025
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter)Pathogenic
not provided|NKX2-1-Related Disorders|Brain-lung-thyroid syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 222
NM_001079668.3(NKX2-1):c.612C>G (p.Tyr204Ter)Pathogenic
NKX2-1-Related Disorders|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 204
NM_001079668.3(NKX2-1):c.432C>G (p.Tyr144Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 144
NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs)Pathogenic
Brain-lung-thyroid syndrome|NKX2-1-Related Disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 116
NM_001079668.3(NKX2-1):c.650C>A (p.Ser217Ter)Pathogenic
Brain-lung-thyroid syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 217
NM_001079668.3(NKX2-1):c.5G>A (p.Trp2Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 2
NM_001079668.3(NKX2-1):c.572G>T (p.Arg191Leu)Pathogenic
Brain-lung-thyroid syndrome;Thyroid cancer, nonmedullary, 1;Benign hereditary chorea|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 191
NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter)Pathogenic
Brain-lung-thyroid syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 144
NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu)Pathogenic
Benign hereditary chorea|not provided|Brain-lung-thyroid syndrome|NKX2-1-Related Disorders
β˜…β˜…β˜†β˜†2024β†’ Residue 238
NM_001079668.3(NKX2-1):c.714G>A (p.Trp238Ter)Pathogenic
Brain-lung-thyroid syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 238
NM_001079668.3(NKX2-1):c.250C>T (p.Gln84Ter)Pathogenic
not provided|Brain-lung-thyroid syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 84
NM_001079668.3(NKX2-1):c.391C>T (p.Gln131Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 131
NM_001079668.3(NKX2-1):c.727C>T (p.Arg243Cys)Pathogenic
not provided|Brain-lung-thyroid syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 243
NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter)Pathogenic
not provided|Brain-lung-thyroid syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 204
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs)Pathogenic
Inborn genetic diseases|Neurodevelopmental disorder|Benign hereditary chorea
β˜…β˜…β˜†β˜†2023β†’ Residue 216
NM_001079668.3(NKX2-1):c.626G>C (p.Arg209Pro)Pathogenic
Chorea;Hereditary ataxia|Brain-lung-thyroid syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 209
NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter)Pathogenic
Brain-lung-thyroid syndrome|not provided|See cases
β˜…β˜…β˜†β˜†2022β†’ Residue 175
NM_001079668.3(NKX2-1):c.619G>T (p.Glu207Ter)Pathogenic
not provided|Benign hereditary chorea
β˜…β˜…β˜†β˜†2022β†’ Residue 207
View on ClinVar β†—
Related Genes
TSHRProtein interaction97%FOXE1Protein interaction92%SLC26A4Protein interaction92%SLC5A5Protein interaction92%TGProtein interaction92%GATA6Protein interaction92%
Tissue Expression6 tissues
Lung
100%
Brain
97%
Liver
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
NKX2-1TSHRFOXE1SLC26A4SLC5A5TGGATA6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P43699
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.52Moderately Constrained
pLIβ“˜
0.96Intolerant
Observed/Expected LoF0.30 [0.18–0.52]
RankingsWhere NKX2-1 stands among ~20K protein-coding genes
  • #967of 20,598
    Most Researched335 Β· top 5%
  • #645of 5,498
    Most Pathogenic Variants121 Β· top quartile
  • #3,229of 17,882
    Most Constrained (LOEUF)0.52 Β· top quartile
Genes detectedNKX2-1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
PMID: 29650690
Eur J Endocrinol Β· 2018
1.00
2
Chorea.
PMID: 31356291
Continuum (Minneap Minn) Β· 2019
0.90
3
Transcriptional Circuitry of NKX2-1 and SOX1 Defines an Unrecognized Lineage Subtype of Small-Cell Lung Cancer.
PMID: 35848993
Am J Respir Crit Care Med Β· 2022
0.84
4
Neutrophils Recruited by NKX2-1 Suppression via Activation of CXCLs/CXCR2 Axis Promote Lung Adenocarcinoma Progression.
PMID: 39113226
Adv Sci (Weinh) Β· 2024
0.80
5
Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders.
PMID: 38916623
J Neural Transm (Vienna) Β· 2024
0.76