TG (Thyroglobulin) Gene

Key regulator of thyroid hormone synthesis and biomarker for thyroid disorders

Gene Information Card

Symbol TG
Full Name Thyroglobulin
Gene Type Protein-coding
Chromosomal Location 8q24.22
NCBI Gene ID 7038 ncbi.nlm.nih.gov/gene/7038
Ensembl ID ENSG00000042832
UniProt ID P01266
OMIM ID 188450
HGNC ID 11764
Aliases Tg, AITD3, TGN

Description

The TG gene encodes thyroglobulin, a large glycoprotein synthesized exclusively in the thyroid gland. Thyroglobulin serves as the precursor for thyroid hormones thyroxine (T4) and triiodothyronine (T3). It is stored in the thyroid follicle lumen and undergoes iodination and proteolytic cleavage to release active hormones. Mutations in TG can cause congenital hypothyroidism and thyroid dyshormonogenesis. Serum thyroglobulin levels are used as a tumor marker in differentiated thyroid cancer.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Congenital hypothyroidism due to thyroglobulin deficiency Loss-of-function mutations impair thyroid hormone synthesis OMIM #274700; multiple reports in ClinVar
Thyroid dyshormonogenesis 3 Defective iodination and coupling of tyrosine residues OMIM #274700; HGNC
Autoimmune thyroid disease (AITD) TG autoantibodies contribute to Hashimoto thyroiditis and Graves disease OMIM #188450; NCBI Gene
Differentiated thyroid carcinoma Elevated serum TG used as biomarker for recurrence ClinVar; COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Thyroid >1000 High
Adipose tissue 0.2 Low
Breast 0.1 Low
Lung 0.1 Low
Cell Line Expression
Cell Line nTPM Notes
Thyroid follicular epithelial cells >1000 Primary site of expression
HeLa 0.0 Not expressed
HepG2 0.0 Not expressed
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.886C>T (p.Arg296*) Nonsense Rare Loss of function; truncated protein
c.1345G>A (p.Gly449Arg) Missense Rare Impaired iodination
c.2201G>A (p.Arg734Gln) Missense Rare Reduced hormone synthesis
c.3785G>A (p.Arg1262Gln) Missense Rare Dominant negative effect reported
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations leading to truncated thyroglobulin; missense mutations disrupting iodination or dimerization.

Gain of Function (GOF)

Not described for TG; gain-of-function is not a recognized mechanism.

Dominant Negative (DN)

Rare missense mutations (e.g., p.Arg1262Gln) can interfere with wild-type thyroglobulin folding and secretion.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/7038
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TG

Gene Ontology (GO)

• hormone activity (GO:0005179) • thyroglobulin activity (GO:0008190)
• extracellular region (GO:0005576) • Golgi lumen (GO:0005796)
• endoplasmic reticulum (GO:0005783) • thyroid hormone generation (GO:0006695)
• thyroid hormone metabolic process (GO:0006590)

Pathways

• Thyroid hormone synthesis (KEGG hsa04918)
• Thyroid hormone signaling pathway (KEGG hsa04919)
• Metabolism of thyroid hormones (Reactome R-HSA-209968)

Protein Summary

Thyroglobulin is a 660 kDa homodimeric glycoprotein synthesized by thyroid follicular cells. It contains multiple tyrosine residues that are iodinated by thyroid peroxidase to form monoiodotyrosine (MIT) and diiodotyrosine (DIT), which couple to produce T3 and T4. The protein is secreted into the thyroid follicle lumen and stored as colloid. Upon stimulation by TSH, thyroglobulin is endocytosed and proteolytically cleaved to release active hormones into the bloodstream. Mutations in TG lead to defective hormone synthesis and congenital hypothyroidism.

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Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/7038
OMIM https://www.omim.org/entry/188450
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11764
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000042832
UniProt https://www.uniprot.org/uniprot/P01266
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=TG%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TG
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