TG Chromosome 8
Thyroglobulin
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What This Gene Does
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]
Associated Conditions (16)
Iodotyrosyl coupling defect
Inborn genetic diseases
TG-related disorder
Autoimmune thyroid disease
susceptibility to
3
Thyroid cancer
nonmedullary
1
Ovarian serous cystadenocarcinoma
Congenital hypothyroidism
Acute myeloid leukemia
Lung cancer
Premature ovarian failure
Gastric cancer
Hypothyroidism
Key Variants
RS1022148195
Conflicting classifications of pathogenicity
Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
Health Risk
RS111363334
Conflicting classifications of pathogenicity
Iodotyrosyl coupling defect, Inborn genetic diseases, Iodotyrosyl coupling defect
Health Risk
RS112300885
Conflicting classifications of pathogenicity
Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
Health Risk
RS114211101
Conflicting classifications of pathogenicity
Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
Health Risk
RS114305064
Conflicting classifications of pathogenicity
Inborn genetic diseases, TG-related disorder, Inborn genetic diseases
Health Risk
RS114322847
Conflicting classifications of pathogenicity
Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
Health Risk
RS114436500
Conflicting classifications of pathogenicity
Iodotyrosyl coupling defect, TG-related disorder, Iodotyrosyl coupling defect
Health Risk
RS114477962
Conflicting classifications of pathogenicity
Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
Health Risk
RS114613744
Conflicting classifications of pathogenicity
Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
Health Risk
RS114781869
Conflicting classifications of pathogenicity
Iodotyrosyl coupling defect, Autoimmune thyroid disease, susceptibility to
Health Risk
RS114875802
Conflicting classifications of pathogenicity
Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
Health Risk
RS114944116
Conflicting classifications of pathogenicity
Iodotyrosyl coupling defect, Thyroid cancer, nonmedullary
Health Risk
All Variants (307)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2490314665 | Health Risk | Pathogenic/Likely pathogenic | TG-related disorder, TG-related disorder |
| RS370991693 | Health Risk | Pathogenic/Likely pathogenic | Congenital hypothyroidism, Congenital hypothyroidism |
| RS759267330 | Health Risk | Pathogenic/Likely pathogenic | Iodotyrosyl coupling defect, Congenital hypothyroidism, Iodotyrosyl coupling defect |
| RS774274702 | Health Risk | Pathogenic/Likely pathogenic | Iodotyrosyl coupling defect, Autoimmune thyroid disease, susceptibility to |
| RS777075341 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS778743706 | Health Risk | Pathogenic/Likely pathogenic | Iodotyrosyl coupling defect, Autoimmune thyroid disease, susceptibility to |
| RS180195 | Health Risk | risk factor | Autoimmune thyroid disease, susceptibility to, 3 |