Gene: TG

Alternate names for this Gene: AITD3|TGN

Gene 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.22

Description of this Gene: thyroglobulin

Type of Gene: protein-coding

rs865488 in TG gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs865488 in TG gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs865488 in TG gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1412480668 in TG gene and AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 (finding) PMID 28942902 2018 Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.

rs865488 in TG gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11786982 in TG gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs2294025 in TG gene and Graves Disease PMID 23612905 2013 Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.

rs121912648 in TG gene and Hypothyroidism PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs853316 in TG gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs80018415 in TG gene and Smoking PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs80018415 in TG gene and Smoking Behaviors PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs121912648 in TG gene and Thyroid Dyshormonogenesis 3 PMID 23164529 2013 New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.

PMID 15769978 2005 A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.

PMID 14764776 2004 Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.

PMID 10404833 1999 A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.

PMID 20410234 2010 New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.

PMID 21128992 2011 A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism.

PMID 17532758 2007 Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.

PMID 19509106 2009 The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.

PMID 10199792 1999 Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.

PMID 27305979 2016 Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

PMID 16477365 2006 A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.

PMID 17244789 2007 Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.

PMID 26813946 2016 Against all odds: blended phenotypes of three single-gene defects.

rs2687812 in TG gene and Vitiligo PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

PMID 22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.