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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]
TG (Thyroglobulin) is a Protein Coding gene. Diseases associated with TG include Thyroid Dyshormonogenesis 3 and Autoimmune Thyroid Disease 3. Among its related pathways are Thyroxine (Thyroid Hormone) Production and Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include hormone activity and carboxylic ester hydrolase activity. An important paralog of this gene is NLGN3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005179 | hormone activity | IEA | -- |
GO:0005515 | protein binding | IPI | 18687776 |
GO:0042802 | identical protein binding | IEA,IDA | 8626858 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | NAS | 14718574 |
GO:0005615 | extracellular space | IEA,IDA | 8626858 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Allograft rejection | ||
2 | Aldosterone synthesis and secretion | ||
3 | Thyroxine (Thyroid Hormone) Production |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006590 | thyroid hormone generation | IEA,ISS | -- |
GO:0007165 | signal transduction | NAS | 3016640 |
GO:0015705 | iodide transport | IEA | -- |
GO:0030878 | thyroid gland development | IEP | 15494458 |
GO:0031641 | regulation of myelination | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Iodine | Approved, Investigational | Pharma | Carrier, binder | 894 | ||
Atorvastatin | Approved | Pharma | 919 | |||
Fennel | Approved, Experimental | Pharma | 6 | |||
Fluoxetine | Approved, Vet_approved | Pharma | 287 | |||
Metformin | Approved | Pharma | AMP-activated protein kinase (AMPK) activator | 2290 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TG 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TG 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TG 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tg 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tg 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TG 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TG 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TG 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TG 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tg 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tg 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | alpha-Est8 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y75B8A.3 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
908084 | Uncertain Significance: Iodotyrosyl coupling defect | 132,893,935(+) |
T/G NM_003235.5(TG):c.3001+6T>G |
INTRON | |
908085 | Uncertain Significance: Iodotyrosyl coupling defect | 132,897,687(+) |
G/C NM_003235.5(TG):c.3040G>C (p.Asp1014His) |
MISSENSE | |
908147 | Uncertain Significance: Iodotyrosyl coupling defect | 132,908,321(+) |
G/A NM_003235.5(TG):c.3983G>A (p.Arg1328His) |
MISSENSE | |
908148 | Uncertain Significance: Iodotyrosyl coupling defect | 132,908,334(+) |
G/T NM_003235.5(TG):c.3996G>T (p.Gln1332His) |
MISSENSE | |
908149 | Uncertain Significance: Iodotyrosyl coupling defect | 132,911,467(+) |
A/T NM_003235.5(TG):c.4093A>T (p.Asn1365Tyr) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2116e212 | CNV | loss | 25503493 |
esv1530894 | CNV | insertion | 17803354 |
esv2622999 | CNV | insertion | 19546169 |
esv32666 | CNV | gain | 17666407 |
esv32776 | CNV | gain | 17666407 |
esv32991 | CNV | loss | 17666407 |
esv33367 | CNV | loss | 17666407 |
esv33548 | CNV | gain | 17666407 |
esv33561 | CNV | loss | 17666407 |
esv3573001 | CNV | loss | 25503493 |
esv3573002 | CNV | loss | 25503493 |
esv3618883 | CNV | loss | 21293372 |
esv3618884 | CNV | loss | 21293372 |
esv6449 | OTHER | inversion | 19470904 |
nsv465818 | CNV | loss | 19166990 |
nsv473380 | CNV | novel sequence insertion | 20440878 |
nsv482993 | CNV | loss | 15286789 |
nsv509279 | CNV | insertion | 20534489 |
nsv525105 | CNV | loss | 19592680 |
nsv526697 | CNV | loss | 19592680 |
nsv612328 | CNV | loss | 21841781 |
nsv6402 | CNV | insertion | 18451855 |
nsv6403 | CNV | insertion | 18451855 |
nsv831463 | CNV | gain | 17160897 |
nsv949988 | CNV | duplication | 24416366 |
nsv981981 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
thyroid dyshormonogenesis 3 |
|
|
autoimmune thyroid disease 3 |
|
|
congenital hypothyroidism |
|
|
familial thyroid dyshormonogenesis |
|
|
goiter |
|
|