Thyroglobulin

Alternative Names

  • TG

Associated Diseases

Thyroid Dyshormonogenesis 3
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OMIM Number

188450

NCBI Gene ID

7038

Uniprot ID

P01266

Length

267,960 bases

No. of Exons

52

No. of isoforms

2

Protein Name

Thyroglobulin

Molecular Mass

304790 Da

Amino Acid Count

2768

Genomic Location

chr8:132,866,942-133,134,901

Gene Map Locus
8q24.22

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003235.4:c.3433+3_3433+6delSomaliaNC_000008.11:g.132900342_132900345delUncertain SignificanceThyroid Dyshormonogenesis 3NG_015832.1:g.38383_38386del; NM_003235.4:c.3433+3_3433+6del
NM_003235.5:c.2276A>GYemenNC_000008.11:g.132888083A>GUncertain SignificanceUncertain SignificanceThyroid Dyshormonogenesis 3NG_015832.1:g.26124A>G; NM_003235.5:c.2276A>G; NP_003226.4:p.Tyr759Cys7662957321028099
NM_003235.5:c.475C>TSaudi ArabiaNC_000008.11:g.132871548C>TPathogenicPathogenicThyroid Dyshormonogenesis 3NG_015832.1:g.9589C>T; NM_003235.5:c.475C>T; NP_003226.4:p.Arg159Ter7592673301028100
NM_003235.5:c.4930C>GUnited Arab EmiratesNC_000008.11:g.132933674C>GNG_015832.1:g.71715C>G; NM_003235.5:c.4930C>G; NP_003226.4:p.Gln1644Glu1240885663
NM_003235.5:c.6360delOmanNC_000008.11:g.133011998delPathogenicThyroid Dyshormonogenesis 3NG_015832.1:g.150039del; NM_003235.5:c.6360del; NP_003226.4:p.Ser2121AlafsTer32
NM_003235.5:c.638+5G>AIraqNC_000008.11:g.132873226G>APathogenic, Uncertain SignificancePathogenicThyroid Dyshormonogenesis 3NG_015832.1:g.11267G>A; NM_003235.5:c.638+5G>A74274702218239
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