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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed September 2015

What is the official name of the TG gene?

The official name of this gene is “thyroglobulin.”

TG is the gene's official symbol. The TG gene is also known by other names, listed below.

What is the normal function of the TG gene?

The TG gene provides instructions for making a protein called thyroglobulin, one of the largest proteins in the body. This protein is found only in the thyroid gland, a butterfly-shaped tissue in the lower neck. Thyroglobulin combines with iodine and is modified and broken down to release small molecules known as thyroid hormones. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Thyroglobulin also serves as a protein storehouse for iodine and inactive thyroid hormone until these substances are needed.

How are changes in the TG gene related to health conditions?

congenital hypothyroidism - caused by mutations in the TG gene

Mutations in the TG gene can cause congenital hypothyroidism, a condition characterized by abnormally low levels of thyroid hormones starting from birth. The TG gene mutations involved in this condition either delete a small segment of the TG gene or change one of the DNA building blocks (base pairs). As a result, the 3-dimensional shape of thyroglobulin is altered, reducing the amount of properly structured protein that is available for thyroid hormone production. In most affected individuals, the thyroid gland is enlarged (goiter) in an attempt to compensate for reduced hormone production. Because cases caused by TG gene mutations are due to a disruption of thyroid hormone synthesis, they are classified as thyroid dyshormonogenesis.

other disorders - caused by mutations in the TG gene

TG gene mutations have also been identified in some people who have a goiter but normal or near normal thyroglobulin levels. These mutations either delete part of the TG gene or change one of the DNA base pairs. As a result, the 3-dimensional shape of thyroglobulin is altered, reducing the amount of properly structured protein that is available for thyroid hormone production. The thyroid gland enlarges, forming a goiter, to compensate for decreased levels of thyroglobulin. With this compensation, thyroid hormone levels are normal, so affected individuals do not have other signs and symptoms of congenital hypothyroidism (described above). It is unclear why enlargement of the thyroid gland can compensate in some affected individuals but not others (leading to congenital hypothyroidism).

Where is the TG gene located?

Cytogenetic Location: 8q24

Molecular Location on chromosome 8: base pairs 132,866,935 to 133,134,902

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The TG gene is located on the long (q) arm of chromosome 8 at position 24.

The TG gene is located on the long (q) arm of chromosome 8 at position 24.

More precisely, the TG gene is located from base pair 132,866,935 to base pair 133,134,902 on chromosome 8.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about TG?

You and your healthcare professional may find the following resources about TG helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TG gene or gene products?

  • AITD3
  • TGN

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding TG?

congenital ; DNA ; DNA base ; gene ; goiter ; hormone ; hypothyroidism ; iodine ; metabolism ; protein ; synthesis ; TGN ; thyroglobulin ; thyroid ; thyroid hormones ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Ban Y, Greenberg DA, Concepcion E, Skrabanek L, Villanueva R, Tomer Y. Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease. Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):15119-24. Epub 2003 Dec 1. (
  • Caron P, Moya CM, Malet D, Gutnisky VJ, Chabardes B, Rivolta CM, Targovnik HM. Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism. J Clin Endocrinol Metab. 2003 Aug;88(8):3546-53. (
  • Citterio CE, Machiavelli GA, Miras MB, Gruñeiro-Papendieck L, Lachlan K, Sobrero G, Chiesa A, Walker J, Muñoz L, Testa G, Belforte FS, González-Sarmiento R, Rivolta CM, Targovnik HM. New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism. Mol Cell Endocrinol. 2013 Jan 30;365(2):277-91. doi: 10.1016/j.mce.2012.11.002. Epub 2012 Nov 16. (
  • Dong YH, Fu DG. Autoimmune thyroid disease: mechanism, genetics and current knowledge. Eur Rev Med Pharmacol Sci. 2014;18(23):3611-8. Review. (
  • González-Sarmiento R, Corral J, Mories MT, Corrales JJ, Miguel-Velado E, Miralles-Garcia JM. Monoallelic deletion in the 5' region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter. Thyroid. 2001 Aug;11(8):789-93. (
  • NCBI Gene (
  • Targovnik HM, Citterio CE, Rivolta CM. Thyroglobulin gene mutations in congenital hypothyroidism. Horm Res Paediatr. 2011;75(5):311-21. doi: 10.1159/000324882. Epub 2011 Mar 3. Review. (
  • Tomer Y, Greenberg D. The thyroglobulin gene as the first thyroid-specific susceptibility gene for autoimmune thyroid disease. Trends Mol Med. 2004 Jul;10(7):306-8. Review. (
  • van de Graaf SA, Ris-Stalpers C, Pauws E, Mendive FM, Targovnik HM, de Vijlder JJ. Up to date with human thyroglobulin. J Endocrinol. 2001 Aug;170(2):307-21. (
  • Vono-Toniolo J, Rivolta CM, Targovnik HM, Medeiros-Neto G, Kopp P. Naturally occurring mutations in the thyroglobulin gene. Thyroid. 2005 Sep;15(9):1021-33. Review. (
  • Wiersinga WM. Thyroid autoimmunity. Endocr Dev. 2014;26:139-57. doi: 10.1159/000363161. Epub 2014 Aug 29. Review. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: September 2015
Published: February 8, 2016