TTF1

Summary

TTF1 (transcription termination factor 1, HGNC:12397) is a protein-coding gene on chromosome 9q34.13, encoding Transcription termination factor 1 (Q15361). Multifunctional nucleolar protein that terminates ribosomal gene transcription, mediates replication fork arrest and regulates RNA polymerase I transcription on chromatin.

This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias ‘TFF1’ with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression.

Source: NCBI Gene 7270 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital hypothyroidism (Moderate, GenCC)
• Clinical variants (ClinVar): 164 total
• MANE Select transcript: NM_007344

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12397
Approved symbol	TTF1
Name	transcription termination factor 1
Location	9q34.13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000125482
Ensembl biotype	protein_coding
OMIM	600777
Entrez	7270

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000334270, ENST00000461970, ENST00000612514, ENST00000895443, ENST00000935359, ENST00000964468, ENST00000964469

RefSeq mRNA: 2 — MANE Select: NM_007344 NM_001205296, NM_007344

CCDS: CCDS6948, CCDS75925

Canonical transcript exons

ENST00000334270 — 11 exons

Exon	Start	End
ENSE00000732930	132400035	132400258
ENSE00000855959	132379059	132379144
ENSE00000855960	132386556	132386621
ENSE00000855961	132388139	132388228
ENSE00000855962	132390597	132390831
ENSE00000855963	132392076	132392206
ENSE00000855964	132396433	132396511
ENSE00000855965	132398141	132398326
ENSE00001333681	132401455	132402828
ENSE00001906849	132406790	132406840
ENSE00003736825	132375548	132376168

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 96.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.4132 / max 186.5970, expressed in 1519 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102894	4.4132	1519

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	96.80	gold quality
trabecular bone tissue	UBERON:0002483	94.93	gold quality
oocyte	CL:0000023	94.27	gold quality
secondary oocyte	CL:0000655	93.80	gold quality
pylorus	UBERON:0001166	92.76	gold quality
pericardium	UBERON:0002407	92.55	gold quality
cardia of stomach	UBERON:0001162	92.08	gold quality
nipple	UBERON:0002030	92.03	gold quality
superior surface of tongue	UBERON:0007371	91.92	gold quality
vena cava	UBERON:0004087	91.82	gold quality
pons	UBERON:0000988	91.16	gold quality
renal medulla	UBERON:0000362	90.95	gold quality
inferior vagus X ganglion	UBERON:0005363	90.25	gold quality
cervix squamous epithelium	UBERON:0006922	89.84	gold quality
bronchial epithelial cell	CL:0002328	89.66	gold quality
trigeminal ganglion	UBERON:0001675	89.49	gold quality
ventral tegmental area	UBERON:0002691	89.47	gold quality
mammalian vulva	UBERON:0000997	89.39	gold quality
urethra	UBERON:0000057	89.35	gold quality
tongue	UBERON:0001723	89.31	gold quality
pharyngeal mucosa	UBERON:0000355	89.12	gold quality
penis	UBERON:0000989	88.94	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.88	gold quality
caput epididymis	UBERON:0004358	88.87	gold quality
body of tongue	UBERON:0011876	88.86	gold quality
cauda epididymis	UBERON:0004360	88.80	gold quality
superior vestibular nucleus	UBERON:0007227	88.75	gold quality
cranial nerve II	UBERON:0000941	88.74	gold quality
subthalamic nucleus	UBERON:0001906	88.60	gold quality
corpus epididymis	UBERON:0004359	88.60	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting TTF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-888-3P	99.53	69.77	1057
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-155-5P	99.35	70.16	1509
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-412-3P	98.86	66.89	712
HSA-MIR-6754-3P	98.84	66.60	889
HSA-MIR-633	98.35	69.45	1167

Literature-anchored findings (GeneRIF, showing 12)

• Depletion of TTF-I recapitulates the effects of ARF on ribosomal RNA synthesis and is rescued by the introduction of a TTF-I transgene. (PMID:20513429)
• Overexpression of Transcription Termination Factor 1 is Associated with Colorectal Cancer (PMID:26036188)
• Case Report: KRAS mutation-positive bronchial surface epithelium type lung adenocarcinoma with strong expression of TTF-1. (PMID:26823891)
• Single nucleotide polymorphism in TTF1 gene is associated with Systemic lupus erythematosus (PMID:28246883)
• the TTF-1 protein and mRNA are specifically expressed in schwannomas (PMID:29104109)
• Our results showed that an approach of using only a two-antibody panel (p40 and TTF-1) might help in reduction of diagnostic category of NSCLC-NOS significantly and contribute in saving tissue for future molecular testing (PMID:29168459)
• Human TTF-I localizes in the nucleolus and N-terminus (1-224) of hTTF-I which include nucleolus localization sequence and the expression of Human TTF-I 521-732 increased HIV-I production by regulating transactivation of the LTR promoter. (PMID:29555014)
• These findings collectively suggest that the triple combination of survivin knockdown with ABT-263 and trametinib treatment, may be a potential strategy for the treatment of KRAS-mutant lung adenocarcinoma. Furthermore, our findings indicate that the welldifferentiated type of KRAS-mutant lung tumors depends, at least in part, on TTF1 for growth. (PMID:29658609)
• TTF-1 expression may serve as a predictive marker to identify lung cancer patients who may benefit from the addition of bevacizumab to platinum doublet therapy. (PMID:30194207)
• TTF1 expression is an independent predictor of survival of patients with advanced lung adenocarcinoma (PMID:30348718)
• Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma. (PMID:34142952)
• TTF-1: A Well-Favored Addition to the Immunohistochemistry Armamentarium as a Diagnostic Marker of SEGA. (PMID:34871801)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	ttf1.1	ENSDARG00000091967
danio_rerio	ttf1.5	ENSDARG00000092508
danio_rerio	ttf1.3	ENSDARG00000093403
danio_rerio	ttf1.2	ENSDARG00000093999
danio_rerio	ttf1.4	ENSDARG00000094043
danio_rerio	ttf1.6	ENSDARG00000094107
mus_musculus	Ttf1	ENSMUSG00000026803
rattus_norvegicus	Ttf1	ENSRNOG00000039777

Paralogs (6): CDC5L (ENSG00000096401), MYBL2 (ENSG00000101057), MYB (ENSG00000118513), DMTF1 (ENSG00000135164), SNAPC4 (ENSG00000165684), MYBL1 (ENSG00000185697)

Protein

Protein identifiers

Transcription termination factor 1 — Q15361 (reviewed: Q15361)

Alternative names: RNA polymerase I termination factor, Transcription termination factor I

All UniProt accessions (2): Q15361, A0A087WY09

UniProt curated annotations — full annotation on UniProt →

Function. Multifunctional nucleolar protein that terminates ribosomal gene transcription, mediates replication fork arrest and regulates RNA polymerase I transcription on chromatin. Plays a dual role in rDNA regulation, being involved in both activation and silencing of rDNA transcription. Interaction with BAZ2A/TIP5 recovers DNA-binding activity.

Subunit / interactions. Oligomer. The oligomeric structure enables to interact simultaneously with two separate DNA fragments. Interacts with BAZ2A/TIP5. Interacts with CAVIN1. Interacts (via the N-terminal region (NRD) and a C-terminal region) with CDKN2A/ARF; the interaction is direct. Interacts (via C-terminal region) with NPM1/B23.

Subcellular location. Nucleus. Nucleolus. Nucleoplasm.

Domain organisation. The N-terminal region (NRD) inhibits DNA-binding via its interaction with the C-terminal region.

RefSeq proteins (2): NP_001192225, NP_031370* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001005	SANT/Myb	Domain
IPR053078	TTF1-like	Family

Pfam: PF13921

UniProt features (34 total): modified residue 9, compositionally biased region 8, sequence variant 7, region of interest 4, domain 2, sequence conflict 2, chain 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15361-F1	57.99	0.22

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (10): 65, 240, 248, 403, 476, 478, 481, 487, 872, 700

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-427389	ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-427413	NoRC negatively regulates rRNA expression
R-HSA-5683826	Surfactant metabolism
R-HSA-73762	RNA Polymerase I Transcription Initiation
R-HSA-73863	RNA Polymerase I Transcription Termination

MSigDB gene sets: 125 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, BROWNE_HCMV_INFECTION_6HR_DN, GOBP_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION, REACTOME_RNA_POLYMERASE_I_TRANSCRIPTION_INITIATION, BROWNE_HCMV_INFECTION_16HR_UP, PUJANA_CHEK2_PCC_NETWORK, GCM_PRKCG, GCM_RING1, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, MORF_EPHA7, AFFAR_YY1_TARGETS_DN, FISCHER_DREAM_TARGETS, GOBP_CHROMATIN_REMODELING, TGTYNNNNNRGCARM_UNKNOWN

GO Biological Process (6): chromatin remodeling (GO:0006338), DNA-templated transcription termination (GO:0006353), transcription initiation at RNA polymerase I promoter (GO:0006361), termination of RNA polymerase I transcription (GO:0006363), negative regulation of DNA replication (GO:0008156), transcription by RNA polymerase I (GO:0006360)

GO Molecular Function (3): DNA binding (GO:0003677), chromatin binding (GO:0003682), protein binding (GO:0005515)

GO Cellular Component (4): fibrillar center (GO:0001650), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Positive epigenetic regulation of rRNA expression	1
Negative epigenetic regulation of rRNA expression	1
Metabolism of proteins	1
RNA Polymerase I Promoter Clearance	1
RNA Polymerase I Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
transcription by RNA polymerase I	2
binding	2
cellular anatomical structure	2
nuclear lumen	2
chromatin organization	1
RNA biosynthetic process	1
DNA-templated transcription initiation	1
DNA-templated transcription termination	1
DNA replication	1
regulation of DNA replication	1
negative regulation of DNA metabolic process	1
nucleic acid binding	1
nucleolus	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

802 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TTF1	BAZ2A	Q9UIF9	942
TTF1	MYB	P10242	780
TTF1	SMARCA5	O60264	650
TTF1	POLI	Q9UNA4	643
TTF1	TIMELESS	Q9UNS1	581
TTF1	RRN3	Q9NYV6	543
TTF1	UBTF	P17480	511
TTF1	TAF1C	Q15572	436
TTF1	TAF1D	Q9H5J8	422
TTF1	KRT7	P08729	419
TTF1	TAF1A	Q15573	418
TTF1	NAPSA	O96009	398
TTF1	CAVIN1	Q6NZI2	387
TTF1	TG	P01266	379
TTF1	KRT20	P35900	370

IntAct

121 interactions, top by confidence:

A	B	Type	Score
RPL14	RRP8	psi-mi:“MI:0914”(association)	0.640
RBM34	RRP8	psi-mi:“MI:0914”(association)	0.640
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
RBM34	NVL	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
PRR11	NVL	psi-mi:“MI:0914”(association)	0.530
RPL30	RRP8	psi-mi:“MI:0914”(association)	0.530
RPL18A	RRP8	psi-mi:“MI:0914”(association)	0.530
RPL8	ZBTB24	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
ABT1	ZNF316	psi-mi:“MI:0914”(association)	0.530
RBMX2	WDR46	psi-mi:“MI:0914”(association)	0.530
RPL13	RRP8	psi-mi:“MI:0914”(association)	0.530
TTF1	HSPD1	psi-mi:“MI:0915”(physical association)	0.400
TTF1	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
TTF1	SMAD7	psi-mi:“MI:0915”(physical association)	0.370
TTF1	SMAD1	psi-mi:“MI:0915”(physical association)	0.370
RNASEH2A	PHF20L1	psi-mi:“MI:0914”(association)	0.350
NLRP2	RBBP6	psi-mi:“MI:0914”(association)	0.350
VPS26B	KIF1B	psi-mi:“MI:0914”(association)	0.350
L3mbtl2	E2F6	psi-mi:“MI:0914”(association)	0.350
GPSM2	AASDH	psi-mi:“MI:0914”(association)	0.350

BioGRID (129): TTF1 (Affinity Capture-MS), TTF1 (Affinity Capture-MS), TTF1 (Affinity Capture-MS), TTF1 (Affinity Capture-MS), TTF1 (Affinity Capture-MS), TTF1 (Affinity Capture-MS), TTF1 (Affinity Capture-MS), TTF1 (Affinity Capture-MS), TTF1 (Affinity Capture-MS), PTRF (Two-hybrid), TTF1 (Affinity Capture-MS), TTF1 (Affinity Capture-MS), TTF1 (Affinity Capture-MS), TTF1 (Affinity Capture-MS), TTF1 (Affinity Capture-MS)

ESM2 similar proteins: A0JP43, A1YEW9, A2D4U8, A2D5N1, A2D671, A2T6K9, A8T6P4, B8AE37, F6QRE9, G3V9A7, O60238, P48785, P79149, Q0IIJ3, Q0P6D6, Q15170, Q15361, Q15390, Q2KIJ9, Q3T013, Q3ULM0, Q3ZBJ9, Q4V7L5, Q5H9J7, Q5NVG8, Q5PPP3, Q5PR69, Q5RFN3, Q5W0A0, Q66HD8, Q67XL4, Q6K678, Q86X53, Q8BP27, Q8BPM6, Q8C627, Q8N4S0, Q8R5H6, Q91W45, Q921P9

Diamond homologs: Q15361, Q62187

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
WWTR1	up-regulates	TTF1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 122 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Peptide chain elongation	26	42.3×	2e-34
Viral mRNA Translation	26	42.3×	2e-34
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	26	41.8×	2e-34
Selenocysteine synthesis	26	40.1×	3e-34
Eukaryotic Translation Termination	26	40.1×	3e-34
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	26	39.2×	4e-34
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	26	39.2×	4e-34
Formation of a pool of free 40S subunits	26	37.3×	1e-33

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	27	43.9×	4e-35
ribosomal large subunit biogenesis	7	27.2×	6e-07
translation	26	23.4×	3e-26
ribosomal small subunit biogenesis	10	20.0×	9e-09
rRNA processing	13	16.1×	2e-10
regulation of alternative mRNA splicing, via spliceosome	5	10.7×	7e-03
RNA processing	5	9.6×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

164 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	129
Likely benign	20
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

6020 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:132390655:A:G	W722R	1.000
9:132390655:A:T	W722R	1.000
9:132390814:A:G	W669R	1.000
9:132390814:A:T	W669R	1.000
9:132392148:A:G	W639R	1.000
9:132392148:A:T	W639R	1.000
9:132396472:C:G	R606P	1.000
9:132398169:T:A	K583N	1.000
9:132398169:T:G	K583N	1.000
9:132386581:A:G	W785R	0.999
9:132386581:A:T	W785R	0.999
9:132390598:A:G	W741R	0.999
9:132390598:A:T	W741R	0.999
9:132390623:T:A	R732S	0.999
9:132390623:T:G	R732S	0.999
9:132390624:C:A	R732I	0.999
9:132390624:C:G	R732T	0.999
9:132390653:C:A	W722C	0.999
9:132390653:C:G	W722C	0.999
9:132390789:A:G	L677P	0.999
9:132390812:C:A	W669C	0.999
9:132390812:C:G	W669C	0.999
9:132392116:A:C	S649R	0.999
9:132392116:A:T	S649R	0.999
9:132392117:C:A	S649I	0.999
9:132392118:T:G	S649R	0.999
9:132392120:C:G	R648P	0.999
9:132392135:C:A	G643V	0.999
9:132392135:C:T	G643D	0.999
9:132392146:C:A	W639C	0.999

dbSNP variants (sampled 300 via entrez): RS1000453968 (9:132392796 A>G), RS1000562475 (9:132381693 C>T), RS1000651619 (9:132375785 C>A), RS1000677138 (9:132398096 C>G,T), RS1000696939 (9:132386480 A>G), RS1000764701 (9:132387439 T>C), RS1000767309 (9:132400376 T>G), RS1000885906 (9:132388690 C>T), RS1001037159 (9:132375539 G>A), RS1001088204 (9:132403621 T>A,G), RS1001146132 (9:132383376 T>C), RS1001317590 (9:132388564 C>T), RS1001515283 (9:132383041 G>A,C), RS1001538103 (9:132399005 G>A), RS1001720250 (9:132399301 T>C)

Disease associations

OMIM: gene MIM:600777 | disease phenotypes: MIM:218700

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital hypothyroidism	Moderate	Autosomal dominant

Mondo (2): hypothyroidism, congenital, nongoitrous, 2 (MONDO:0024264), congenital hypothyroidism (MONDO:0018612)

Orphanet (1): Thyroid ectopia (Orphanet:95712)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D003409	Congenital Hypothyroidism	C05.116.099.343.347; C05.116.132.256; C16.320.240.625; C19.297.155; C19.874.482.281
C566852	Hypothyroidism, Congenital, Nongoitrous, 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, increases methylation, affects methylation	3
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Tretinoin	increases expression, decreases expression, affects cotreatment	2
Valproic Acid	affects expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate	decreases expression	1
cobaltous chloride	increases expression	1
perfluorooctanoic acid	decreases expression	1
coumarin	increases phosphorylation	1
cupric oxide	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
Chir 99021	affects cotreatment, increases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
2,2,2,-trichloro-1-(3,4-dichlorophenyl)-ethylacetate	increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Air Pollutants	decreases expression, increases abundance	1
Copper	affects binding, decreases expression	1
Disulfiram	affects binding, decreases expression	1
Estradiol	affects binding, increases reaction	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Ribonucleotides	affects binding	1
Tobacco Smoke Pollution	increases expression	1
Vitamin E	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

24 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05228184	PHASE4	TERMINATED	Use of Tirosint®-SOL or Tablet Formulations of Levothyroxine in Pediatric Patients With Congenital Hypothyroidism (CH)
NCT05371262	PHASE4	COMPLETED	Influence of Initial Levothyroxine Dose on Neurodevelopmental and Growth Outcomes in Congenital Hypothyroidism
NCT00403390	Not specified	COMPLETED	Generic vs. Name-Brand Levothyroxine
NCT00493103	Not specified	COMPLETED	TG Gene Mutations and Congenital Hypothyroidism
NCT00497575	Not specified	COMPLETED	Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism
NCT00505479	Not specified	UNKNOWN	Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy?
NCT01223638	Not specified	WITHDRAWN	The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism
NCT01349634	Not specified	COMPLETED	The Effects of Iodized Salt on Cognitive Development in Ethiopia
NCT01488721	Not specified	COMPLETED	Clinical Evaluation of NeoPlex4 Assay and NeoPlex System
NCT01916018	Not specified	COMPLETED	Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis.
NCT02307175	Not specified	COMPLETED	A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication
NCT02374593	Not specified	COMPLETED	Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04712760	Not specified	UNKNOWN	Congenital Hypothyroidism in Children With Eutopic Gland or Thyroid Hemiagenesis: Predictive Factors for Transient vs Permanent Hypothyroidism.
NCT04734457	Not specified	UNKNOWN	Final Height in Patients With CH Diagnosed by the Screening
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06724224	Not specified	RECRUITING	Comparison of Levothyroxine Formulations in the Treatment of Congenital Hypothyroidism
NCT06728735	Not specified	RECRUITING	Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid
NCT06864039	Not specified	ENROLLING_BY_INVITATION	Quality of Life and Long-term Outcome of Adequately Treated Congenital Hypothyroidism
NCT06864351	Not specified	RECRUITING	Prospective Evaluation of OptiThyDose
NCT07126353	Not specified	NOT_YET_RECRUITING	Metabolic Risk Assessment in Prepubertal Children With Congenital Hypothyroidism
NCT07280104	Not specified	RECRUITING	Infants With Primary Congenital Hypothyroidism and Development
NCT07425028	Not specified	NOT_YET_RECRUITING	Evaluation of an Intensified Systematic Screening for Congenital Hypothyroidism in Premature Newborns
NCT07579988	Not specified	NOT_YET_RECRUITING	Ultrasound Measurement of Thyroid Volume in Term Newborns