Human Gene TG (ENST00000220616.9) from GENCODE V44
  Description: Homo sapiens thyroglobulin (TG), mRNA. (from RefSeq NM_003235)
RefSeq Summary (NM_003235): 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. [provided by RefSeq, Nov 2009].
Gencode Transcript: ENST00000220616.9
Gencode Gene: ENSG00000042832.12
Transcript (Including UTRs)
   Position: hg38 chr8:132,866,958-133,134,899 Size: 267,942 Total Exon Count: 48 Strand: +
Coding Region
   Position: hg38 chr8:132,867,001-133,134,794 Size: 267,794 Coding Exon Count: 48 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:132,866,958-133,134,899)mRNA (may differ from genome)Protein (2768 aa)
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-  Comments and Description Text from UniProtKB
  ID: THYG_HUMAN
DESCRIPTION: RecName: Full=Thyroglobulin; Short=Tg; Flags: Precursor;
FUNCTION: Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3).
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Thyroid gland specific.
PTM: Sulfated tyrosines are desulfated during iodination.
DISEASE: Defects in TG are the cause of 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.
DISEASE: Variations in TG are associated with susceptibility to autoimmune thyroid disease type 3 (AITD3) [MIM:608175]. AITDs including Graves disease (GD) and Hashimoto thyroiditis (HT), are among the most common human autoimmune diseases. They are complex diseases, which are caused by an interaction between susceptibility genes and nongenetic factors, such as infection.
SIMILARITY: Belongs to the type-B carboxylesterase/lipase family.
SIMILARITY: Contains 11 thyroglobulin type-1 domains.
WEB RESOURCE: Name=Wikipedia; Note=Thyroglobulin entry; URL="http://en.wikipedia.org/wiki/Thyroglobulin";

-  Primer design for this transcript
 

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TG
Diseases sorted by gene-association score: thyroid dyshormonogenesis 3* (1330), familial thyroid dyshormonogenesis* (750), autoimmune thyroid disease 3* (594), goiter (60), hypothyroidism (57), thyroiditis (52), papillary carcinoma (37), struma ovarii (36), nodular goiter (35), nontoxic goiter (35), subacute thyroiditis (35), hashimoto thyroiditis (35), hyperthyroidism (33), graves' disease (30), thyroid cancer (29), thyroid cancer, nonmedullary, 1 (29), malignant struma ovarii (26), multinodular goiter (25), toxic diffuse goiter (25), plummer's disease (24), congenital hypothyroidism (24), mucoepidermoid thyroid carcinoma (21), thyroid gland disease (20), thyroid cancer, anaplastic (20), autoimmune disease of endocrine system (20), follicular adenoma (20), endemic goiter (19), myxedema (18), ovarian germ cell teratoma (18), papillary follicular thyroid adenocarcinoma (18), thyroid carcinoma, hurthle cell (16), suppurative thyroiditis (16), thyroid cancer, nonmedullary, 2 (16), endocrine exophthalmos (15), pendred syndrome (15), mucoepidermoid carcinoma (15), colloid adenoma (15), fetal adenoma (14), exophthalmos (14), graves disease 1 (13), multicentric papillary thyroid carcinoma (11), benign struma ovarii (11), postsurgical hypothyroidism (10), breast cystic hypersecretory carcinoma (10), goiter, multinodular 1, with or without sertoli-leydig cell tumors (10), premature menopause (9), neonatal hypothyroidism (9), subacute lymphocytic thyroiditis (9), malignant teratoma (9), lymphoepithelioma-like thymic carcinoma (8), hypersensitivity reaction type ii disease (8), medullary thyroid carcinoma, familial (8), substernal goiter (8), thyroid angiosarcoma (8), hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia (8), celiac disease (8), papillary thymic adenocarcinoma (8), pernicious anemia (8), turner syndrome (7), hypersensitivity reaction disease (7), cystadenofibroma (7), endocrine gland cancer (7), alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity (7), thyroid sarcoma (7), athyreosis (7), acute thyroiditis (6), hypoadrenalism (6), atypical follicular adenoma (6), hypothyroidism, congenital, nongoitrous 4 (6), water-clear cell adenoma (6), dyshormonogenic goiter (6), clear cell adenoma (5), thyroid crisis (5), spermatocele (4), germ cell and embryonal cancer (4), bamforth-lazarus syndrome (4), amyloid tumor (4), cowden disease (4), breast secretory carcinoma (4), pulmonary aspergilloma (4), hypertropia (4), ovarian cystic teratoma (4), nutritional deficiency disease (4), endocrine organ benign neoplasm (4), spinal canal and spinal cord meningioma (4), differentiated thyroid carcinoma (4), spinal meningioma (3), diabetes mellitus, insulin-dependent (2), immune system disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3020.44 RPKM in Thyroid
Total median expression: 3041.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.8043-0.298 Picture PostScript Text
3' UTR -12.90105-0.123 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002018 - CarbesteraseB
IPR019819 - Carboxylesterase_B_CS
IPR016324 - Thyroglobulin
IPR000716 - Thyroglobulin_1
IPR011641 - Tyr-kin_ephrin_A/B_rcpt-like

Pfam Domains:
PF00135 - Carboxylesterase family
PF07699 - Putative ephrin-receptor like
PF00086 - Thyroglobulin type-1 repeat

ModBase Predicted Comparative 3D Structure on P01266
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
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Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005179 hormone activity

Biological Process:
GO:0007165 signal transduction
GO:0010469 regulation of receptor activity
GO:0015705 iodide transport
GO:0030878 thyroid gland development
GO:0031641 regulation of myelination
GO:0042403 thyroid hormone metabolic process
GO:0042446 hormone biosynthetic process

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space


-  Descriptions from all associated GenBank mRNAs
  AK303666 - Homo sapiens cDNA FLJ61525 complete cds, highly similar to Thyroglobulin precursor.
X05615 - Human mRNA for thyroglobulin.
BC140933 - Homo sapiens thyroglobulin, mRNA (cDNA clone MGC:176610 IMAGE:9056745), complete cds.
U93033 - Homo sapiens thyroglobulin (TG) mRNA, complete cds.
AB209159 - Homo sapiens mRNA for Thyroglobulin precursor variant protein.
AK303667 - Homo sapiens cDNA FLJ50344 complete cds, highly similar to Thyroglobulin precursor.
AK299197 - Homo sapiens cDNA FLJ51282 complete cds, highly similar to Thyroglobulin precursor.
BC127887 - Homo sapiens thyroglobulin, mRNA (cDNA clone IMAGE:40133565), partial cds.
X02154 - Human mRNA for thyroglobulin N-terminal region (clone 2).
S40807 - thyroglobulin {alternatively spliced} [human, thyroid, mRNA Partial, 126 nt].
S80793 - Tg=thyroglobulin [human, congenital goiter patient HSN, thyroid tissue, mRNA Partial Mutant, 186 nt].

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05320 - Autoimmune thyroid disease

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000220616.1, ENST00000220616.2, ENST00000220616.3, ENST00000220616.4, ENST00000220616.5, ENST00000220616.6, ENST00000220616.7, ENST00000220616.8, NM_003235, O15274, O43899, P01266, Q15593, Q15948, Q9NYR1, Q9NYR2, Q9UMZ0, Q9UNY3, THYG_HUMAN, uc003ytw.1, uc003ytw.2, uc003ytw.3, uc003ytw.4, uc003ytw.5
UCSC ID: ENST00000220616.9
RefSeq Accession: NM_003235
Protein: P01266 (aka THYG_HUMAN)
CCDS: CCDS34944.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.