TG
geneOn this page
Also known as TGNAITD3
Summary
TG (thyroglobulin, HGNC:11764) is a protein-coding gene on chromosome 8q24.22, encoding Thyroglobulin (P01266). Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3).
Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis.
Source: NCBI Gene 7038 — RefSeq curated summary.
At a glance
- Gene–disease (curated): thyroid dyshormonogenesis 3 (Strong, GenCC) — +2 more curated relationships
- GWAS associations: 17
- Clinical variants (ClinVar): 2,166 total — 146 pathogenic, 84 likely-pathogenic
- Phenotypes (HPO): 35
- MANE Select transcript:
NM_003235
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11764 |
| Approved symbol | TG |
| Name | thyroglobulin |
| Location | 8q24.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TGN, AITD3 |
| Ensembl gene | ENSG00000042832 |
| Ensembl biotype | protein_coding |
| OMIM | 188450 |
| Entrez | 7038 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 7 protein_coding, 6 retained_intron, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay
ENST00000220616, ENST00000518058, ENST00000518097, ENST00000518108, ENST00000518505, ENST00000519178, ENST00000519294, ENST00000519543, ENST00000520089, ENST00000520197, ENST00000520769, ENST00000521107, ENST00000522523, ENST00000522691, ENST00000522797, ENST00000522809, ENST00000522996, ENST00000523756, ENST00000523901, ENST00000524151
RefSeq mRNA: 1 — MANE Select: NM_003235
NM_003235
CCDS: CCDS34944
Canonical transcript exons
ENST00000220616 — 48 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000333665 | 132897649 | 132897786 |
| ENSE00000333729 | 132898798 | 132898910 |
| ENSE00000703750 | 132868115 | 132868223 |
| ENSE00000703754 | 132881863 | 132881969 |
| ENSE00000703759 | 132882814 | 132882999 |
| ENSE00000703769 | 132886448 | 132887548 |
| ENSE00000703784 | 132893690 | 132893929 |
| ENSE00000887842 | 132887984 | 132888568 |
| ENSE00001167756 | 132901353 | 132901553 |
| ENSE00001167767 | 132900237 | 132900339 |
| ENSE00002135628 | 132866958 | 132867067 |
| ENSE00003467202 | 132966560 | 132966697 |
| ENSE00003473885 | 132983350 | 132983412 |
| ENSE00003475987 | 132967794 | 132967970 |
| ENSE00003477063 | 132873062 | 132873221 |
| ENSE00003477521 | 132908186 | 132908340 |
| ENSE00003479079 | 132972598 | 132972741 |
| ENSE00003486198 | 132969458 | 132969569 |
| ENSE00003499110 | 133096206 | 133096373 |
| ENSE00003499877 | 133019602 | 133019695 |
| ENSE00003501831 | 132869729 | 132869826 |
| ENSE00003508458 | 132933561 | 132933676 |
| ENSE00003530030 | 133021991 | 133022150 |
| ENSE00003533709 | 133017778 | 133017997 |
| ENSE00003536270 | 132941351 | 132941542 |
| ENSE00003541116 | 133011901 | 133012035 |
| ENSE00003545272 | 132898169 | 132898246 |
| ENSE00003546779 | 132971794 | 132971873 |
| ENSE00003554701 | 133113422 | 133113603 |
| ENSE00003561110 | 133095044 | 133095208 |
| ENSE00003565803 | 133029821 | 133030023 |
| ENSE00003565900 | 132961008 | 132961073 |
| ENSE00003569090 | 133116609 | 133116716 |
| ENSE00003570450 | 132948776 | 132948943 |
| ENSE00003573586 | 132911377 | 132911533 |
| ENSE00003582256 | 133133470 | 133133660 |
| ENSE00003587254 | 132882469 | 132882612 |
| ENSE00003600224 | 132913047 | 132913265 |
| ENSE00003617644 | 132871348 | 132871551 |
| ENSE00003622963 | 132923338 | 132923508 |
| ENSE00003650099 | 132919376 | 132919525 |
| ENSE00003652559 | 132935756 | 132935864 |
| ENSE00003663118 | 133134676 | 133134899 |
| ENSE00003663641 | 132962994 | 132963074 |
| ENSE00003680461 | 132929076 | 132929192 |
| ENSE00003683387 | 133013600 | 133013764 |
| ENSE00003693081 | 133131812 | 133131946 |
| ENSE00003787596 | 132906688 | 132906900 |
Expression profiles
Bgee: expression breadth ubiquitous, 169 present calls, max score 99.99.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 37.0598 / max 28978.6635, expressed in 102 samples.
FANTOM5 promoters (50 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 90839 | 36.2394 | 21 |
| 91103 | 0.0852 | 53 |
| 90872 | 0.0597 | 3 |
| 91102 | 0.0557 | 35 |
| 90871 | 0.0521 | 6 |
| 90870 | 0.0475 | 11 |
| 91149 | 0.0372 | 3 |
| 91054 | 0.0302 | 3 |
| 90984 | 0.0285 | 3 |
| 91051 | 0.0278 | 3 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of thyroid gland | UBERON:0001119 | 99.99 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.99 | gold quality |
| thyroid gland | UBERON:0002046 | 99.99 | gold quality |
| apex of heart | UBERON:0002098 | 90.36 | gold quality |
| skin of leg | UBERON:0001511 | 84.36 | gold quality |
| skin of abdomen | UBERON:0001416 | 82.99 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 82.76 | gold quality |
| amygdala | UBERON:0001876 | 80.96 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.67 | silver quality |
| right lobe of liver | UBERON:0001114 | 80.66 | gold quality |
| heart left ventricle | UBERON:0002084 | 80.32 | gold quality |
| zone of skin | UBERON:0000014 | 80.04 | gold quality |
| right adrenal gland | UBERON:0001233 | 79.96 | gold quality |
| cardiac ventricle | UBERON:0002082 | 79.69 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 79.35 | gold quality |
| gastrocnemius | UBERON:0001388 | 78.90 | gold quality |
| minor salivary gland | UBERON:0001830 | 78.41 | gold quality |
| left adrenal gland | UBERON:0001234 | 77.74 | gold quality |
| right atrium auricular region | UBERON:0006631 | 77.49 | gold quality |
| adenohypophysis | UBERON:0002196 | 77.48 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 77.30 | gold quality |
| granulocyte | CL:0000094 | 77.24 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 77.23 | gold quality |
| adrenal cortex | UBERON:0001235 | 77.05 | gold quality |
| lymph node | UBERON:0000029 | 77.04 | gold quality |
| upper lobe of lung | UBERON:0008948 | 76.50 | gold quality |
| cardiac atrium | UBERON:0002081 | 76.34 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 76.24 | gold quality |
| adrenal gland | UBERON:0002369 | 76.18 | gold quality |
| tibial artery | UBERON:0007610 | 76.10 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.57 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AIRE, APEX1, ATF6, CREB1, ESR1, FOXE1, HHEX, HOXB3, ID2, IRF1, KCNIP3, MAZ, MEF2A, MITF, NFIC, NFKB, NKX2-1, NR4A1, PAX6, PAX8, PPARG, RUNX2, SSRP1, TBXT, TCF4, TTF1
miRNA regulators (miRDB)
7 targeting TG, 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-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-1303 | 99.65 | 69.77 | 1662 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-939-5P | 97.10 | 65.80 | 1579 |
| HSA-MIR-1343-5P | 96.48 | 66.06 | 1506 |
| HSA-MIR-3935 | 96.33 | 66.79 | 797 |
Literature-anchored findings (GeneRIF, showing 40)
- a major locus for familial congenital hypothyroidism. (PMID:11935320)
- evaluated Tg content in the thyroid and in the serum of 108 patients suffering from benign or malignant thyroid disorders (PMID:12022704)
- Amplification generates two fragments of 3.5 and 5.0 kb that correspond to the exclusion or inclusion of a 1464-bp segment, respectively. (PMID:12804099)
- These findings demonstrate that papillary thyroid carcinoma cells synthesize unique post-translationally modified thyroglobulin and transferrin variants in situ. (PMID:12819023)
- No differences in allele frequencies were observed between autoimmune thyroid disease cases and controls for D8S284 variant (PMID:14557492)
- the native structure of the AChE region of thyroglobulin functions as a dimerization domain facilitating intracellular transport of Tg to the site of thyroid hormonogenesis (PMID:14764582)
- The rise in Tg with TSH and the reduction in Tg with L-T(4) provide evidence of target tissue response to TSH and further confirm the TSH rise as physiologically significant. (PMID:15070908)
- Hypothyroidism during type I interferon therapy may be related to an abnormal expression and function of key proteins involved in iodine uptake and organification. (PMID:15562032)
- Location and volume of metastases influence basal Tg, but not its responsiveness to rhTSH, whereas the histological type of carcinoma influences both basal Tg and responsiveness to rhTSH. (PMID:15579752)
- At this stage, we cannot exclude the Tg region as harboring a susceptibility locus for autoimmune thyroid disease. (PMID:15579800)
- a new case of congenital goiter and hypothyroidism caused by a p.R277X mutation in the TG gene (PMID:15769978)
- Clinical value of a differential response of thyroglobulin (Tg) concentration after recombinant human thyrotropin in thyroid paxpillary adenocarcinoma after thyroidectomy. (PMID:15785246)
- Thyroglobulin assays are immunoassays that may be hampered by autoantibodies directed against Tg. To avoid this problem some authors advocated the use of mRNA extraction and RT-PCR amplification. (PMID:16230285)
- pendrin and thyroglobulin are downstream targets in vivo of TTF-1, whose action is a prime factor in controlling thyroid differentiation in vivo (PMID:16260629)
- The alternative splicing of the TG gene described in this article constitutes a new case of nonsense-associated alternative splicing. (PMID:16271015)
- Aberrant splicing occurs as a result of a mutation, which causes fusion of exons 4 and 6, resulting in the frame shift at codon position 141 and a premature stop codon at position 147. (PMID:16403815)
- A heterozygous mutation in TG resulted in congenital goitrous hypothyroidism with high serum triiodothyronine levels. (PMID:16477365)
- results may suggest interaction between the DRbeta1 chain R genotype & thyroglobulin CC genotype in conferring susceptibility to Graves disease; these results, if confirmed, may imply that these variants interact biologically to increase the odds of GD (PMID:16646680)
- molecular mechanism of regulation of the hormonogenic efficiency and of the T4/T3 ratio in hTg (PMID:16679516)
- Increased diodinase activity in the thyroid gland is responsible for the higher serum-free levels in patients with defective thyroglobin transport. (PMID:17244789)
- Combined use of serum Tg levels measured just before before thyroid cancer thyroidecatomy an indicator of success, when combined wiwth I131 treaatment. (PMID:17278897)
- TT (exon 33) genotype frequency in Graves disease patients significantly higher than the controls (PMID:17526951)
- We report three patients with congenital hypothyroidism with goitre caused by two compound heterozygous mutations, p.C164Y/p.L234fsX237 and p.R277X/p.A2215D, and one homozygous mutation, p.R277X, in the TG gene. (PMID:17532758)
- study showed Taiwanese patients with the C/C genotype of E33SNP, smoking, ophthalmopathy & positive TSH-receptor antibodies at the end of the treatment were more likely to have a relapse of Graves’ hyperthyroidism after antithyroid medication is withdrawn (PMID:17550957)
- We have identified the thyroglobulin gene in females with autoimmune thyroid diseases. (PMID:17644307)
- expression level of thyroglobulin mRNA in the anaplastic thyroid carcinoma tissue and cell lines was <10(2) times higher than that in the differentiated thyroid carcinomas. (PMID:17671725)
- Papillary thyroid cancers Papillary thyroid cancers with no 131I uptake had slightly reduced NIS, significantly reduced thyroglobulin,thyroperoxidase and pendrin and significantly increased GLUT-1 gene expression levels. (PMID:17854396)
- There is no systematic variation during the menstrual cycle in autoantibodies against thyroid peroxidase, thyroglobulin, and thyrotropin receptor (PMID:17902201)
- analysis of the recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the TG gene in two unrelated families (one Argentinian and another Brazilian) with congenital hypothyroidism, goiter and impairment of TG synthesis (PMID:17911408)
- Tg and TgAb negativity at the time of ablation is not a predictive determinant for future recurrent status. (PMID:18166820)
- levels of thyroglobulin (Tg) mRNA in the TSH-stimulated lymphocytes were noticeably increased in subjects with thyroid disease suggesting an interesting relationship between production of Tg antigen in peripheral blood and autoimmunity in thyroid disease (PMID:18243140)
- connection between infection of H. pylori and the occurrence of anti-TPO autoantibodies representing thyroid autoimmunity and gastric parietal cells autoantibodies representing the thyrogastric syndrome (PMID:18271683)
- three single nucleotide polymorphisms were identified within the Tg gene (PMID:18385936)
- peptides from autoantigens are also associated to HLA-DR in vivo and therefore may well be involved in the maintenance and the regulation of the autoimmune response (PMID:18566446)
- There is an association of the IVS30+G>T mutation of the thyroglobulin gene with hypothyroidism. (PMID:18631008)
- Elevated thyroglobulin levels post surgery are associated with disease recurrence in papillary thyroid carcinoma (PMID:18636294)
- analysis of family data did not show linkage of the thyroglobulin gene with autoimmune thyroid diseases nor did analysis of case-control data show association of Tgms2 or SNPs with Graves’ disease (PMID:18656705)
- the frequencies of genotypes in the TG gene E10, E12, and E33 SNPs were not found to be significantly different in Grave disease patients who developed GD when aged over 40 years when compared with those aged below 40 years (PMID:18755875)
- existence of four single nucleotide polymorphisms among Han Chinese, one SNP haplotype with Hashimoto thyroiditis suggests that TG may be a susceptibility gene (PMID:19034705)
- The population living in two areas was exposed to consequences of severe and moderate iodine deficiency (PMID:19194833)
Cross-species orthologs
25 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tg | ENSDARG00000020084 |
| mus_musculus | Tg | ENSMUSG00000053469 |
| rattus_norvegicus | Tg | ENSRNOG00000006104 |
| drosophila_melanogaster | Est-6 | FBGN0000592 |
| drosophila_melanogaster | Est-P | FBGN0000594 |
| drosophila_melanogaster | Glt | FBGN0001114 |
| drosophila_melanogaster | Jhe | FBGN0010052 |
| drosophila_melanogaster | alpha-Est1 | FBGN0015568 |
| drosophila_melanogaster | alpha-Est10 | FBGN0015569 |
| drosophila_melanogaster | alpha-Est2 | FBGN0015570 |
| drosophila_melanogaster | alpha-Est3 | FBGN0015571 |
| drosophila_melanogaster | alpha-Est4 | FBGN0015572 |
| drosophila_melanogaster | alpha-Est6 | FBGN0015574 |
| drosophila_melanogaster | alpha-Est7 | FBGN0015575 |
| drosophila_melanogaster | alpha-Est8 | FBGN0015576 |
| drosophila_melanogaster | alpha-Est9 | FBGN0015577 |
| drosophila_melanogaster | CG4757 | FBGN0027584 |
| drosophila_melanogaster | CG9287 | FBGN0032057 |
| drosophila_melanogaster | CG9289 | FBGN0032058 |
| drosophila_melanogaster | CG3841 | FBGN0032131 |
| drosophila_melanogaster | CG4382 | FBGN0032132 |
| drosophila_melanogaster | Jhedup | FBGN0034076 |
| drosophila_melanogaster | gas | FBGN0034736 |
| drosophila_melanogaster | alpha-Est5 | FBGN0261393 |
| caenorhabditis_elegans | WBGENE00000035 |
Paralogs (13): ACHE (ENSG00000087085), BCHE (ENSG00000114200), NLGN4X (ENSG00000146938), CES5A (ENSG00000159398), NLGN4Y (ENSG00000165246), NLGN1 (ENSG00000169760), NLGN2 (ENSG00000169992), CEL (ENSG00000170835), CES4A (ENSG00000172824), CES3 (ENSG00000172828), CES2 (ENSG00000172831), NLGN3 (ENSG00000196338), CES1 (ENSG00000198848)
Protein
Protein identifiers
Thyroglobulin — P01266 (reviewed: P01266)
All UniProt accessions (10): E5RG33, E7EVM0, P01266, H0YB42, H0YBC5, H0YBJ2, H0YBL4, H0YBQ6, H0YBR7, H0YBY1
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin followed by their oxidative coupling in the thyroid follicle lumen. Following TG re-internalization and lysosomal-mediated proteolysis, T3 and T4 are released from the polypeptide backbone leading to their secretion into the bloodstream. One dimer produces 7 thyroid hormone molecules.
Subunit / interactions. Monomer. Homodimer (via ChEL region); occurs in the endoplasmic reticulum and is required for export to the Golgi apparatus. Homooligomer; disulfide-linked; stored in this form in the thyroid follicle lumen.
Subcellular location. Secreted.
Tissue specificity. Specifically expressed in the thyroid gland.
Post-translational modifications. Iodinated on tyrosine residues by TPO. There are 4 pairs of iodinated tyrosines used for coupling: acceptor Tyr-24 is coupled to donor Tyr-149 or Tyr-234, acceptor Tyr-2573 is coupled to donor Tyr-2540, acceptor Tyr-2766 in monomer 1 is coupled to donor Tyr-2766 in monomer 2 and acceptor Tyr-1310 in monomer 1 is coupled to donor Tyr-108 in monomer 2. Sulfated tyrosines are desulfated during iodination. Undergoes sequential proteolysis by cathepsins to release thyroxine (T4) and triiodothyronine (T3) hormones. In the thyroid follicle lumen, cross-linked TG (storage form) is solubilized by limited proteolysis mediated by cathepsins CTSB and/or CTSL. Partially cleaved TG is further processed by CTSK/cathepsin K and/or CTSL resulting in the release of T4. Following endocytosis, further processing occurs leading to the release of T3 and more T4 hormones.
Disease relevance. Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases. The disease is caused by variants affecting the gene represented in this entry. Autoimmune thyroid disease 3 (AITD3) [MIM:608175] A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism. Disease susceptibility is associated with variants affecting the gene represented in this entry.
Domain organisation. The cholinesterase-like (ChEL) region is required for dimerization and export from the endoplasmic reticulum.
Similarity. Belongs to the type-B carboxylesterase/lipase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P01266-1 | 1, Major | yes |
| P01266-2 | 2, Minor |
RefSeq proteins (1): NP_003226* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000716 | Thyroglobulin_1 | Domain |
| IPR002018 | CarbesteraseB | Domain |
| IPR011641 | Tyr-kin_ephrin_A/B_rcpt-like | Domain |
| IPR016324 | Thyroglobulin | Family |
| IPR019819 | Carboxylesterase_B_CS | Conserved_site |
| IPR029058 | AB_hydrolase_fold | Homologous_superfamily |
| IPR036857 | Thyroglobulin_1_sf | Homologous_superfamily |
| IPR052001 | MHC-II_Gamma/Thyroglobulin | Family |
Pfam: PF00086, PF00135, PF07699
UniProt features (420 total): strand 123, helix 68, disulfide bond 60, sequence variant 42, modified residue 36, turn 23, glycosylation site 21, domain 11, mutagenesis site 10, repeat 8, sequence conflict 8, site 4, region of interest 3, signal peptide 1, chain 1, splice variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7B75 | ELECTRON MICROSCOPY | 3.2 |
| 9I0O | ELECTRON MICROSCOPY | 3.36 |
| 6SCJ | ELECTRON MICROSCOPY | 3.6 |
Predicted structure (AlphaFold)
No AlphaFold model available for P01266 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (4): 110 (not glycosylated); 496 (not glycosylated); 1869 (not glycosylated); 2122 (not glycosylated)
Post-translational modifications (36): 24, 24, 24, 24, 108, 149, 149, 234, 258, 704, 704, 704, 704, 785, 866, 866, 883, 992, 992, 1310 …
Disulfide bonds (60): 638–658, 662–687, 698–703, 705–726, 730–763, 774–898, 900–921, 925–1031, 1042–1049, 1051–1073, 1077–1108, 1126–1145, 1149–1169, 1181–1188, 1190–1210, 1215–1264, 1231–1245, 1306–1356, 1331–1347, 1440–1459 …
Glycosylation sites (21): 76, 110, 198, 484, 529, 748, 816, 947, 1220, 1348, 1349, 1365, 1716, 1774, 1869, 2013, 2122, 2250, 2295, 2582 …
Mutagenesis-validated functional residues (10):
| Position | Phenotype |
|---|---|
| 24 | abolishes thyroxine (t4) production; when associated with f-1310, f-2573 and f-2766. |
| 108 | severe loss of thyroxine (t4) production; when associated with f-149 or f-234, and f-2540 and f-2766. abolishes thyroxin |
| 149 | severe loss of thyroxine (t4) production; when associated with f-108, f-2540 and f-2766. abolishes thyroxine (t4) produc |
| 234 | severe loss of thyroxine (t4) production; when associated with f-108, f-2540 and f-2766. abolishes thyroxine (t4) produc |
| 1309 | abolishes thyroxine (t4) production. |
| 1310 | abolishes thyroxine (t4) production; when associated with f-24, f-2573 and f-2766. |
| 2540 | severe loss of thyroxine (t4) production; when associated with f-149 or f-234, and f-108 and f-2766. abolishes thyroxine |
| 2573 | abolishes thyroxine (t4) production; when associated with f-24, f-1310 and f-2766. |
| 2766 | abolishes thyroxine (t4) production; when associated with f-24, f-1310 and f-2573. |
| 2766 | severe loss of thyroxine (t4) production; when associated with f-149 or f-234, and f-108 and f-2540. abolishes thyroxine |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 206 (showing top):
GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_THYROID_HORMONE_METABOLIC_PROCESS, GOBP_REGULATION_OF_MYELINATION, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, MARTINEZ_RB1_TARGETS_UP, GOBP_ENSHEATHMENT_OF_NEURONS, KEGG_AUTOIMMUNE_THYROID_DISEASE, GOBP_HORMONE_BIOSYNTHETIC_PROCESS, CLIMENT_BREAST_CANCER_COPY_NUMBER_UP, GOBP_ENDOCRINE_SYSTEM_DEVELOPMENT, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_MODIFIED_AMINO_ACID_METABOLIC_PROCESS, GOBP_THYROID_GLAND_DEVELOPMENT
GO Biological Process (7): thyroid hormone generation (GO:0006590), signal transduction (GO:0007165), iodide transport (GO:0015705), thyroid gland development (GO:0030878), regulation of myelination (GO:0031641), hormone biosynthetic process (GO:0042446), thyroid hormone metabolic process (GO:0042403)
GO Molecular Function (3): hormone activity (GO:0005179), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of cellular process | 2 |
| hormone metabolic process | 2 |
| thyroid hormone metabolic process | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| cellular response to stimulus | 1 |
| monoatomic anion transport | 1 |
| inorganic anion transport | 1 |
| endocrine system development | 1 |
| gland development | 1 |
| myelination | 1 |
| regulation of nervous system development | 1 |
| biosynthetic process | 1 |
| modified amino acid metabolic process | 1 |
| phenol-containing compound metabolic process | 1 |
| receptor ligand activity | 1 |
| protein binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1476 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TG | TPO | P07202 | 986 |
| TG | MB | P02144 | 973 |
| TG | TSHR | P16473 | 972 |
| TG | SLC5A5 | Q92911 | 970 |
| TG | PAX8 | Q06710 | 932 |
| TG | NKX2-1 | P43699 | 923 |
| TG | ALB | P02768 | 909 |
| TG | SLC26A4 | O43511 | 896 |
| TG | FOXE1 | O00358 | 857 |
| TG | C6orf15 | Q6UXA7 | 817 |
| TG | BRAF | P15056 | 750 |
| TG | PXDNL | A1KZ92 | 749 |
| TG | PXDN | Q92626 | 749 |
| TG | DIO2 | Q92813 | 748 |
| TG | DUOXA2 | Q1HG44 | 740 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SORT1 | TG | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| SORT1 | TG | psi-mi:“MI:0915”(physical association) | 0.540 |
| Sort1 | TG | psi-mi:“MI:0403”(colocalization) | 0.370 |
| carB | TG | psi-mi:“MI:0915”(physical association) | 0.000 |
| TG | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (9): TG (Reconstituted Complex), TG (Reconstituted Complex), TG (Affinity Capture-MS), TG (Reconstituted Complex), TG (Reconstituted Complex), TG (Reconstituted Complex), S (Reconstituted Complex), TG (Affinity Capture-MS), TG (Protein-peptide)
ESM2 similar proteins: A0A1D0BN92, A8X481, A8X9H4, A8Y181, A9CB89, B3A0Q7, B3A0R3, B3A0R4, B3EX01, B4G532, B4II56, B4R1Q2, C8UFK8, G2XDH0, H2A0M0, O16883, O36359, O45599, P01266, P04671, P06651, P0CU47, P0CV33, P11450, P11841, P21250, P23117, P23118, P34402, P46504, P86858, P89679, P98159, Q09255, Q09624, Q17308, Q19948, Q23971, Q27384, Q299E6
Diamond homologs: A0A060S684, A0A0E4AET8, A0A443HK52, D4ASH1, D4AZ78, D4B1N9, I1RDA9, I6Y9F7, O08710, O16168, O16169, O16170, O16171, O16172, O46421, O62760, O62761, P01266, P01267, P04058, P06882, P07692, P08171, P10959, P12337, P12992, P16303, P16854, P17573, P18142, P20261, P21836, P21837, P21927, P22394, P23795, P25725, P25726, P30122, P32749
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PAX8 | “up-regulates quantity by expression” | TG | “transcriptional regulation” |
| TPO | “up-regulates activity” | TG | “catalytic activity” |
| TG | up-regulates | Thyroid_hormonogenesis | |
| TG | up-regulates | Colloid | |
| APEX1 | “up-regulates quantity by expression” | TG | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
2166 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 146 |
| Likely pathogenic | 84 |
| Uncertain significance | 531 |
| Likely benign | 1097 |
| Benign | 107 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1028102 | NM_003235.5(TG):c.8055G>A (p.Trp2685Ter) | Pathogenic |
| 1071384 | NC_000008.10:g.(?133141509)(134296554_?)del | Pathogenic |
| 1073984 | NM_003235.5(TG):c.7396dup (p.Gln2466fs) | Pathogenic |
| 12689 | NM_003235.5(TG):c.275-3C>G | Pathogenic |
| 12691 | NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) | Pathogenic |
| 12693 | NM_003235.5(TG):c.3733T>C (p.Cys1245Arg) | Pathogenic |
| 12694 | NM_003235.5(TG):c.5986T>A (p.Cys1996Ser) | Pathogenic |
| 12695 | NM_003235.5(TG):c.886C>T (p.Arg296Ter) | Pathogenic |
| 12699 | NM_003235.5(TG):c.1143del (p.Tyr382fs) | Pathogenic |
| 12700 | NM_003235.5(TG):c.6725G>A (p.Arg2242His) | Pathogenic |
| 12701 | NM_003235.5(TG):c.6200-1G>C | Pathogenic |
| 12702 | NM_003235.5(TG):c.3229T>C (p.Cys1077Arg) | Pathogenic |
| 12706 | NM_003235.5(TG):c.638+1G>A | Pathogenic |
| 1323687 | NM_003235.5(TG):c.6397+2T>A | Pathogenic |
| 1802151 | NM_003235.5(TG):c.6610del (p.Ser2204fs) | Pathogenic |
| 1803164 | NM_003235.5(TG):c.6185G>A (p.Trp2062Ter) | Pathogenic |
| 2499079 | NM_003235.5(TG):c.4159+1G>A | Pathogenic |
| 2627370 | NM_003235.5(TG):c.7006C>T (p.Arg2336Ter) | Pathogenic |
| 2693666 | NM_003235.5(TG):c.3566G>A (p.Trp1189Ter) | Pathogenic |
| 2694831 | NM_003235.5(TG):c.7919_7920del (p.Ala2639_Tyr2640insTer) | Pathogenic |
| 2696424 | NM_003235.5(TG):c.2866_2867del (p.Ser956fs) | Pathogenic |
| 2703225 | NM_003235.5(TG):c.4463T>A (p.Leu1488Ter) | Pathogenic |
| 2710114 | NM_003235.5(TG):c.6114_6115insGC (p.Asn2039fs) | Pathogenic |
| 2710348 | NM_003235.5(TG):c.3612dup (p.Gly1205fs) | Pathogenic |
| 2711228 | NM_003235.5(TG):c.2566C>T (p.Gln856Ter) | Pathogenic |
| 2713686 | NM_003235.5(TG):c.416G>A (p.Trp139Ter) | Pathogenic |
| 2721461 | NM_003235.5(TG):c.8119C>T (p.Arg2707Ter) | Pathogenic |
| 2732212 | NM_003235.5(TG):c.7111C>T (p.Arg2371Ter) | Pathogenic |
| 2735213 | NM_003235.5(TG):c.274+2T>G | Pathogenic |
| 2735215 | NM_003235.5(TG):c.1348del (p.Ser450fs) | Pathogenic |
SpliceAI
10680 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:132867064:TTCGG:T | donor_loss | 1.0000 |
| 8:132867065:TCGG:T | donor_loss | 1.0000 |
| 8:132867067:GGTA:G | donor_loss | 1.0000 |
| 8:132867068:G:GG | donor_gain | 1.0000 |
| 8:132867069:TAAG:T | donor_loss | 1.0000 |
| 8:132868113:A:AG | acceptor_gain | 1.0000 |
| 8:132868114:G:GG | acceptor_gain | 1.0000 |
| 8:132868114:GA:G | acceptor_gain | 1.0000 |
| 8:132868224:G:GG | donor_gain | 1.0000 |
| 8:132868229:GCT:G | donor_gain | 1.0000 |
| 8:132869822:GGCTT:G | donor_gain | 1.0000 |
| 8:132869823:GCTTG:G | donor_gain | 1.0000 |
| 8:132871547:GCGAT:G | donor_gain | 1.0000 |
| 8:132882610:GAT:G | donor_gain | 1.0000 |
| 8:132882611:AT:A | donor_gain | 1.0000 |
| 8:132882612:TGTA:T | donor_loss | 1.0000 |
| 8:132882613:G:GA | donor_loss | 1.0000 |
| 8:132882613:G:GG | donor_gain | 1.0000 |
| 8:132882614:T:TC | donor_loss | 1.0000 |
| 8:132882983:G:T | donor_gain | 1.0000 |
| 8:132893925:GTCTA:G | donor_gain | 1.0000 |
| 8:132893930:G:GG | donor_gain | 1.0000 |
| 8:132897640:T:TA | acceptor_gain | 1.0000 |
| 8:132898245:GT:G | donor_gain | 1.0000 |
| 8:132898911:G:GG | donor_gain | 1.0000 |
| 8:132919375:GTT:G | acceptor_gain | 1.0000 |
| 8:132919375:GTTA:G | acceptor_gain | 1.0000 |
| 8:132919375:GTTAA:G | acceptor_gain | 1.0000 |
| 8:132919526:G:GG | donor_gain | 1.0000 |
| 8:132929074:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
18094 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:132897758:G:C | W1037C | 0.996 |
| 8:132897758:G:T | W1037C | 0.996 |
| 8:132906866:G:C | W1271C | 0.995 |
| 8:132906866:G:T | W1271C | 0.995 |
| 8:132871490:G:C | W139C | 0.994 |
| 8:132871490:G:T | W139C | 0.994 |
| 8:132869765:G:C | W71C | 0.991 |
| 8:132869765:G:T | W71C | 0.991 |
| 8:133133626:G:C | W2718C | 0.991 |
| 8:133133626:G:T | W2718C | 0.991 |
| 8:132868201:T:A | C52S | 0.990 |
| 8:132868202:G:C | C52S | 0.990 |
| 8:132887283:G:C | W637C | 0.990 |
| 8:132887283:G:T | W637C | 0.990 |
| 8:132873130:T:A | C183S | 0.989 |
| 8:132873131:G:C | C183S | 0.989 |
| 8:133022138:T:C | F2342L | 0.989 |
| 8:133022140:C:A | F2342L | 0.989 |
| 8:133022140:C:G | F2342L | 0.989 |
| 8:133113596:G:C | A2583P | 0.989 |
| 8:133116625:T:C | C2591R | 0.989 |
| 8:132871431:T:A | C120S | 0.987 |
| 8:132871432:G:C | C120S | 0.987 |
| 8:132871491:T:A | C140S | 0.987 |
| 8:132871492:G:C | C140S | 0.987 |
| 8:132898179:G:C | W1050C | 0.987 |
| 8:132898179:G:T | W1050C | 0.987 |
| 8:132971804:T:C | C1996R | 0.987 |
| 8:133029961:A:C | S2393R | 0.987 |
| 8:133029963:C:A | S2393R | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000014073 (8:132884048 C>G), RS1000019384 (8:132912770 A>G), RS1000032101 (8:132929324 A>T), RS1000043649 (8:132883894 G>T), RS1000067295 (8:133107470 C>G), RS1000108679 (8:132973312 A>G), RS1000116559 (8:133039572 T>G), RS1000123975 (8:133063607 G>A), RS1000142325 (8:132982243 T>A), RS1000146533 (8:132935611 C>T), RS1000163008 (8:133122171 A>G), RS1000178656 (8:132884782 A>C,G), RS1000196456 (8:133086657 A>G), RS1000201996 (8:133021832 A>C), RS1000204207 (8:132867691 C>T)
Disease associations
OMIM: gene MIM:188450 | disease phenotypes: MIM:274700, MIM:608175, MIM:121200
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| thyroid dyshormonogenesis 3 | Strong | Autosomal recessive |
| familial thyroid dyshormonogenesis | Supportive | Autosomal recessive |
| thyroid cancer | Limited | Autosomal dominant |
Mondo (10): thyroid dyshormonogenesis 3 (MONDO:0010135), congenital hypothyroidism (MONDO:0018612), autoimmune thyroid disease, susceptibility to, 3 (MONDO:0011982), benign neonatal seizures (MONDO:0016027), primary ovarian failure (MONDO:0005387), prostate cancer (MONDO:0008315), hypothyroidism (MONDO:0005420), hereditary breast ovarian cancer syndrome (MONDO:0003582), thyroid cancer (MONDO:0002108), familial thyroid dyshormonogenesis (MONDO:0010132)
Orphanet (6): Familial thyroid dyshormonogenesis (Orphanet:95716), Congenital hypothyroidism (Orphanet:442), Self-limited neonatal epilepsy (Orphanet:1949), Familial prostate cancer (Orphanet:1331), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
35 total (30 of 35 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000158 | Macroglossia |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000282 | Facial edema |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000851 | Congenital hypothyroidism |
| HP:0000853 | Goiter |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001265 | Hyporeflexia |
| HP:0001537 | Umbilical hernia |
| HP:0001662 | Bradycardia |
| HP:0002019 | Constipation |
| HP:0002045 | Hypothermia |
| HP:0002890 | Thyroid carcinoma |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration |
| HP:0003265 | Neonatal hyperbilirubinemia |
| HP:0004491 | Large posterior fontanelle |
| HP:0005280 | Depressed nasal bridge |
| HP:0005930 | Abnormal epiphysis morphology |
| HP:0006579 | Prolonged neonatal jaundice |
| HP:0008223 | Compensated hypothyroidism |
| HP:0008263 | Thyroid defect in oxidation and organification of iodide |
| HP:0008828 | Delayed proximal femoral epiphyseal ossification |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0011437 | Maternal autoimmune disease |
| HP:0012559 | Increased T3/T4 ratio |
| HP:0012758 | Neurodevelopmental delay |
| HP:0025482 | Positive perchlorate discharge test |
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001531_15 | Temperament | 5.000000e-06 |
| GCST001984_1 | Graves’ disease | 8.000000e-09 |
| GCST003988_21 | Hypothyroidism | 7.000000e-09 |
| GCST004029_8 | Angiotensin-converting enzyme inhibitor intolerance | 7.000000e-06 |
| GCST004400_1 | Bone erosion in rheumatoid arthritis | 4.000000e-06 |
| GCST004785_46 | Vitiligo | 2.000000e-13 |
| GCST006897_9 | Hyperthyroidism | 2.000000e-12 |
| GCST006899_20 | Thyroid stimulating hormone levels | 3.000000e-21 |
| GCST007932_6 | Medication use (thyroid preparations) | 1.000000e-13 |
| GCST009391_1103 | Metabolite levels | 8.000000e-06 |
| GCST009597_188 | Multiple sclerosis | 7.000000e-06 |
| GCST010571_45 | Autoimmune thyroid disease | 1.000000e-12 |
| GCST010703_219 | Brain morphology (MOSTest) | 4.000000e-11 |
| GCST012490_204 | Femur bone mineral density x serum urate levels interaction | 1.000000e-09 |
| GCST90002381_462 | Eosinophil count | 1.000000e-09 |
| GCST90002382_260 | Eosinophil percentage of white cells | 8.000000e-11 |
| GCST90014325_38 | Asthma | 4.000000e-08 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004825 | temperament and character inventory |
| EFO:0005325 | response to angiotensin-converting enzyme inhibitor |
| EFO:0005413 | joint damage measurement |
| EFO:0009933 | Thyroid preparation use measurement |
| EFO:0010447 | 3-hydroxyanthranilic acid measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004531 | urate measurement |
| EFO:0004842 | eosinophil count |
| EFO:0007991 | eosinophil percentage of leukocytes |
MeSH disease descriptors (7)
| 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 |
| D061325 | Hereditary Breast and Ovarian Cancer Syndrome | C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431 |
| D007037 | Hypothyroidism | C19.874.482 |
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
| C564766 | Thyroid Dyshormonogenesis 1 (supp.) | |
| C562769 | Thyroid Dyshormonogenesis 3 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| Tretinoin | decreases expression, affects cotreatment, increases expression | 3 |
| Aflatoxin B1 | increases methylation, decreases expression, decreases methylation | 3 |
| triphenyl phosphate | increases abundance, increases expression, affects expression | 2 |
| mono-(2-ethylhexyl)phthalate | decreases expression, decreases reaction, decreases secretion | 2 |
| 4-phenylbutyric acid | decreases expression, decreases reaction | 2 |
| Amiodarone | decreases expression, decreases reaction | 2 |
| Nickel | decreases expression | 2 |
| methyleugenol | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | increases abundance, increases expression | 1 |
| 2,4,5,2’,4’,5’-hexachlorobiphenyl | decreases expression, increases abundance | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| 2,2’,3’,4,4’,5-hexachlorobiphenyl | decreases expression, increases abundance | 1 |
| tris(chloroethyl)phosphate | increases abundance, increases expression | 1 |
| 9-deoxy-delta-9-prostaglandin D2 | increases expression, increases reaction | 1 |
| 2-ethyl-5-carboxypentyl phthalate | increases abundance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2,3’,4,4’,5-pentachlorobiphenyl | decreases secretion | 1 |
| benzyloxycarbonylleucyl-leucyl-leucine aldehyde | decreases expression, decreases reaction | 1 |
| chromium hexavalent ion | increases expression, increases abundance | 1 |
| pentabromodiphenyl ether | decreases expression, decreases reaction, increases secretion | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 15-deoxy-delta(12,14)-prostaglandin J2 | increases reaction, increases expression | 1 |
| efavirenz | increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| NCGC 00229600 | decreases expression | 1 |
Clinical trials (associated diseases)
600 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00604318 | PHASE4 | COMPLETED | Quality of Life, Recombinant TSH (Thyrogen) and Thyroid Cancer |
| NCT01496313 | PHASE4 | COMPLETED | To Compare The Effects Of Two Doses Of Vandetanib In Patients With Advanced Medullary Thyroid Cancer |
| NCT02946918 | PHASE4 | TERMINATED | Levothyroxine Replacement With Liquid Gel Capsules vs Tablets Post-thyroidectomy |
| NCT03065218 | PHASE4 | TERMINATED | 99mTc Sestamibi Scans In Thyroglobulin Positive Scan Negative Differentiated Thyroid Cancer (DTC) Patients |
| NCT03469310 | PHASE4 | COMPLETED | Minimizing Narcotic Analgesics After Endocrine Surgery |
| NCT03969108 | PHASE4 | COMPLETED | Diagnostic Accuracy Study of Indocyanine Green for Parathyroid Perfusion Assessment |
| NCT06697782 | PHASE4 | COMPLETED | Aprepitant and Ondansetron Monotherapy or Combination for Postoperative Nausea and Vomiting in Thyroid Cancer |
| NCT07600580 | PHASE4 | ACTIVE_NOT_RECRUITING | The Association Between Bilateral Intermediate Cervical Plexus Block During Total Thyroidectomy and Surgical Stress Response |
| 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 |
| NCT00417066 | PHASE4 | COMPLETED | Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders |
| NCT00732693 | PHASE4 | COMPLETED | Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01853501 | PHASE4 | UNKNOWN | Effects of ADSC Therapy in Women With POF |
| NCT02783937 | PHASE4 | COMPLETED | Filgrastim for Premature Ovarian Insufficiency |
| NCT03535480 | PHASE4 | UNKNOWN | Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure |
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
Related Atlas pages
- Associated diseases: thyroid gland carcinoma, thyroid dyshormonogenesis 3, familial thyroid dyshormonogenesis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autoimmune thyroid disease, autoimmune thyroid disease, susceptibility to, 3, benign neonatal seizures, congenital hypothyroidism, familial thyroid dyshormonogenesis, Graves disease, hereditary breast ovarian cancer syndrome, hyperthyroidism, hypothyroidism, multiple sclerosis, primary ovarian failure, prostate cancer, thyroid cancer, thyroid dyshormonogenesis 3, vitiligo