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TG thyroglobulin [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_003235 Homo sapiens thyroglobulin (TG), mRNA. Full Length Quote
ORF Sequence Quote


Gene Symbol TG
Entrez Gene ID 7038
Full Name thyroglobulin
Synonyms AITD3, TGN
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

8

8q24
Summary 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].
Disorder

MIM: 188450

Thyroid dyshormonogenesis 3, 274700 (3); {Autoimmune thyroid disease,
mRNA NM_003235, 55770861
Protein NP_003226, 55770862
Product thyroglobulin precursor
RefSeq Status REVIEWED
KEGG
hsa05320Autoimmune thyroid disease
Homo sapiens (human)TGNP_003226.4
Canis lupus familiaris (dog)TGXP_539168.2
Bos taurus (cattle)TGNP_776308.1
Mus musculus (house mouse)TgNP_033401.2
Rattus norvegicus (Norway rat)TgNP_112250.1
Danio rerio (zebrafish)tgXP_694292.4
Process
IDNameEvidence
GO:0007165signal transductionNAS
GO:0009268response to pHIEA
GO:0015705iodide transportIEA
GO:0030878thyroid gland developmentIEP
GO:0031641regulation of myelinationIEA
GO:0032496response to lipopolysaccharideIEA
GO:0042403thyroid hormone metabolic processIEA
GO:0042446hormone biosynthetic processIEA
GO:0045056transcytosisIEA
GO:0050804regulation of synaptic transmissionISS
Component
IDNameEvidence
GO:0005576extracellular regionNAS
GO:0005615extracellular spaceIEA
GO:0005783endoplasmic reticulumIEA
GO:0005794Golgi apparatusIEA
GO:0048471perinuclear region of cytoplasmIEA
Function
IDNameEvidence
GO:0004091carboxylesterase activityISS
GO:0005179hormone activityIEA
GO:0032403protein complex bindingIEA
GO:0051087chaperone bindingIEA
GeneCards TG
UniProt P01266
MIM 188450
Ensembl ENSG00000042832
HGNC 11764
HPRD 01782

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