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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TTF1
transcription termination factor 1
Chromosome 9 · 9q34.13
NCBI Gene: 7270Ensembl: ENSG00000125482.13HGNC: HGNC:12397UniProt: A0A087WY09
69PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingfibrillar centernucleoluschromatin bindingneurodegenerative diseasePrecordial painhypothyroidism, congenital, nongoitrous, 2small cell lung carcinoma
✦AI Summary

TTF1 (thyroid transcription factor 1) is a transcription factor that plays critical roles in both thyroid development and lung adenocarcinoma biology. In thyroid development, TTF1 mutations are associated with congenital hypothyroidism and thyroid dysgenesis, where mutations in TTF1 along with other transcription factors like PAX8 cause defects in thyroid organogenesis resulting in hypoplastic, ectopic, or absent thyroid glands 1. TTF1 mutations have also been identified in Chinese patients with congenital hypothyroidism, contributing to thyroid dysgenesis cases 2. In lung cancer, TTF1 serves as both a diagnostic marker and prognostic factor with complex roles. TTF1 protein expression is associated with favorable prognosis in lung adenocarcinoma, while TTF1 copy number alterations (amplification and polysomy) are independent indicators of unfavorable prognosis 3. TTF1-negative lung adenocarcinomas represent a distinct phenotype with predominance in male smokers, worse performance status, and greater metastatic burden 4. Additionally, TTF1 expression status influences chemotherapy response, with TTF1-negative patients showing improved outcomes with non-pemetrexed regimens compared to pemetrexed-based therapy 4. Genetic variants in TTF1 have also been associated with increased papillary thyroid cancer risk 5.

Sources cited
1
TTF1 mutations cause thyroid dysgenesis and congenital hypothyroidism through defects in thyroid organogenesis
PMID: 20302910
2
TTF1 mutations identified in Chinese congenital hypothyroidism patients contributing to thyroid dysgenesis
PMID: 30022773
3
TTF1 protein expression is favorable prognostic factor while TTF1 copy number alterations indicate unfavorable prognosis in lung cancer
PMID: 28378892
4
TTF1-negative lung adenocarcinomas have distinct phenotype and different chemotherapy response patterns
PMID: 32620471
5
TTF1 genetic variants associated with increased papillary thyroid cancer risk
PMID: 26356687
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.30Weak
Precordial painOpen Targets
0.28Weak
hypothyroidism, congenital, nongoitrous, 2Open Targets
0.12Weak
small cell lung carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
lung adenocarcinomaOpen Targets
0.10Suggestive
lung cancerOpen Targets
0.10Suggestive
adenocarcinomaOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
Nijmegen breakage syndromeOpen Targets
0.07Suggestive
interstitial lung diseaseOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
IrritabilityOpen Targets
0.07Suggestive
squamous cell carcinomaOpen Targets
0.06Suggestive
ulcerative colitisOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
HypercholesterolemiaOpen Targets
0.05Suggestive
papillary thyroid carcinomaOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
crush injuryOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SMARCA5Protein interaction100%PRKACBProtein interaction99%PRKCAProtein interaction98%PRKACGProtein interaction97%PRKCBProtein interaction95%TAF1CProtein interaction91%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
89%
Brain
88%
Ovary
48%
Lung
45%
Liver
21%
Gene Interaction Network
Click a node to explore
TTF1SMARCA5PRKACBPRKCAPRKACGPRKCBTAF1C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15361
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.67–1.02]
RankingsWhere TTF1 stands among ~20K protein-coding genes
  • #6,863of 20,598
    Most Researched69
  • #9,964of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedTTF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Replication and Meta-Analysis of Common Gene Mutations in TTF1 and TTF2 with Papillary Thyroid Cancer.
PMID: 26356687
Medicine (Baltimore) · 2015
1.00
2
Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.
PMID: 30022773
Endocr J · 2018
0.90
3
Co-occurring genomic alterations define major subsets of KRAS-mutant lung adenocarcinoma with distinct biology, immune profiles, and therapeutic vulnerabilities.
PMID: 26069186
Cancer Discov · 2015
0.80
4
Pemetrexed-Based Chemotherapy Is Inferior to Pemetrexed-Free Regimens in Thyroid Transcription Factor 1 (TTF-1)-Negative, EGFR/ALK-Negative Lung Adenocarcinoma: A Propensity Score Matched Pairs Analysis.
PMID: 32620471
Clin Lung Cancer · 2020
0.70
5
TP53, NOTCH2, and STK11 Mutations in a Rare Tumor of non-Small Cell Lung Carcinoma with Diffuse Coexpression of TTF1 and p40 in the Same Tumor Cells.
PMID: 36253711
Int J Surg Pathol · 2023
0.60