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    TG thyroglobulin [ Homo sapiens (human) ]

    Gene ID: 7038, updated on 12-May-2013
    Official Symbol
    TGprovided by HGNC
    Official Full Name
    thyroglobulinprovided by HGNC
    Primary source
    HGNC:11764
    See related
    Ensembl:ENSG00000042832; HPRD:01782; MIM:188450; Vega:OTTHUMG00000164649
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TGN; AITD3
    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. [provided by RefSeq, Nov 2009]
    Location :
    8q24
    Sequence :
    Chromosome: 8; NC_000008.10 (133879205..134147143)
    See TG in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 71 Neighboring gene PHD finger protein 20-like 1 Neighboring gene ribosomal protein L21 pseudogene 78 Neighboring gene Src-like-adaptor Neighboring gene WNT1 inducible signaling pathway protein 1 Neighboring gene N-myc downstream regulated 1

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Glycosylation of sera thyroglobulin antibody in patients with thyroid diseases. Zhao L, et al. Eur J Endocrinol, 2013 Apr. PMID 23360821.
    2. Thyroglobulin is a sensitive measure of both deficient and excess iodine intakes in children and indicates no adverse effects on thyroid function in the UIC range of 100-299 μg/L: a UNICEF/ICCIDD study group report. Zimmermann MB, et al. J Clin Endocrinol Metab, 2013 Mar. PMID 23345097.
    3. A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. Service SK, et al. Transl Psychiatry, 2012 May 15. PMID 22832960.
    4. Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism. Liu S, et al. Twin Res Hum Genet, 2012 Feb. PMID 22784463.
    5. Multiple SNPs in intron 41 of thyroglobulin gene are associated with autoimmune thyroid disease in the Japanese population. Ban Y, et al. PLoS One, 2012. PMID 22662162.

    See all (130) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Glycosylation of sera thyroglobulin antibody was varied in different thyroid diseases.
      Title: Glycosylation of sera thyroglobulin antibody in patients with thyroid diseases.
    2. In school-aged children, Tg is a sensitive indicator of both low and excess iodine intake.
      Title: Thyroglobulin is a sensitive measure of both deficient and excess iodine intakes in children and indicates no adverse effects on thyroid function in the UIC range of 100-299 μg/L: a UNICEF/ICCIDD study group report.
    3. the thyroglobulin gene is involved in susceptibility for Graves' disease (GD) and Hashimoto's thyroiditis in the Japanese.
      Title: Multiple SNPs in intron 41 of thyroglobulin gene are associated with autoimmune thyroid disease in the Japanese population.
    4. compound heterozygous mutation in the TG gene in a Chinese twin family with congenital goiter and hypothyroidism; study provides further evidence that TG mutations cause congenital goiter and hypothyroidism, demonstrates genetic heterogeneity of the mutation and increases understanding of phenotype-genotype correlations
      Title: Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism.
    5. Findings suggest that thyroglobulin (Tg) and thyroid-stimulating hormone receptor (TSHR) detected in orbital connective tissues in thyroid-associated ophthalmopathy (TAO) result from local fibrocyte biosynthetic activity.
      Title: Human fibrocytes coexpress thyroglobulin and thyrotropin receptor.
    6. In patients with well-differentiated thyroid cancer, a post-thyroidectomy thyroglobulin level less than 10 ng/ml is associated with a low probability of having persistent disease.
      Title: Prognostic value of post-thyroidectomy thyroglobulin levels in patients with differentiated thyroid cancer.
    7. Data suggest that in Hashimoto's thyroiditis, both antigens, TG and thyroperoxidase, are recognized by peripheral and thyroid gland infiltrating CD8-positive T-cells and are involved in thyroid destruction leading to clinical disease manifestation.
      Title: Evidence of a combined cytotoxic thyroglobulin and thyroperoxidase epitope-specific cellular immunity in Hashimoto's thyroiditis.
    8. Epistasis between the HSD17B4 and thyroglobulin polymorphisms is associated with premature ovarian failure.
      Title: Epistasis between the HSD17B4 and TG polymorphisms is associated with premature ovarian failure.
    9. Papillary thyroid cancers Papillary thyroid cancers with no 131I uptake had slightly reduced NIS, significantly reduced thyroglobulin,thyroperoxidase and pendrin and significantly increased GLUT-1 gene expression levels.
      Title: Molecular characteristics in papillary thyroid cancers (PTCs) with no 131I uptake.
    10. Cold exposure influences thyroid hormones and TG activity in serum in Arctic populations consistent with consumption of thyroid hormone and higher thyroid hormone turnover.
      Title: Thyroid hyperactivity with high thyroglobulin in serum despite sufficient iodine intake in chronic cold adaptation in an Arctic Inuit hunter population.
    Submit: New GeneRIF Correction See all (78)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    P01266 P02743 APCS    HPRD  PubMed  
    P01266 P07306 ASGR1    HPRD  PubMed  
    P01266 P27824 CANX    HPRD  PubMed  
    P01266 P07339 CTSD    HPRD  PubMed  
    P01266 P07711 CTSL1    HPRD  PubMed  
    P01266 P14625 HSP90B1    HPRD  PubMed  
    P01266 P11021 HSPA5    HPRD  PubMed  
    P01266 P98164 LRP2    HPRD  PubMed  
    P01266 P07237 P4HB    HPRD  PubMed  
    P01266 P01266 TG    HPRD  PubMed  
    BioGRID:112896 BioGRID:109541 HSPA5    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112896 BioGRID:111073 P4HB    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112896 BioGRID:112896 TG    BioGRID  PubMed Reconstituted Complex 
    • Autoimmune thyroid disease, organism-specific biosystem (from KEGG)
      Autoimmune thyroid disease, organism-specific biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
    • Autoimmune thyroid disease, conserved biosystem (from KEGG)
      Autoimmune thyroid disease, conserved biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT carboxylesterase activity IKR
    Inferred from Key Residues
    more info
    		  
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT neurexin family protein binding IRD
    Inferred from Rapid Divergence
    more info
    		  
    NOT receptor activity IRD
    Inferred from Rapid Divergence
    more info
    		  
    Process Evidence Code Pubs
    hormone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    iodide transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    NOT synapse assembly IRD
    Inferred from Rapid Divergence
    more info
    		  
    thyroid gland development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    thyroid hormone generation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    NOT cell surface IRD
    Inferred from Rapid Divergence
    more info
    		  
    extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT integral to plasma membrane IRD
    Inferred from Rapid Divergence
    more info
    		  
    NOT synapse IRD
    Inferred from Rapid Divergence
    more info
    		  
    Preferred Names
    thyroglobulin
    Names
    thyroglobulin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015832.1 RefSeqGene

      Range
      5001..272939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003235.4 → NP_003226.4  thyroglobulin precursor

      Status: REVIEWED

      Source sequence(s)
      AU141420, AU141607, AU141923, AU142151, U93033, X05615
      Consensus CDS
      CCDS34944.1
      UniProtKB/Swiss-Prot
      P01266
      Related
      ENSP00000220616, OTTHUMP00000227159, ENST00000220616, OTTHUMT00000379606
      Conserved Domains (6) summary
      cd00191
      Location:300 – 358
      Blast Score: 178
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
      smart00211
      Location:1520 – 1567
      Blast Score: 125
      TY; Thyroglobulin type I repeats.
      pfam07699
      Location:1465 – 1510
      Blast Score: 158
      GCC2_GCC3; GCC2 and GCC3
      pfam00135
      Location:2203 – 2718
      Blast Score: 1107
      COesterase; Carboxylesterase family
      cl00150
      Location:1077 – 1146
      Blast Score: 91
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
      cl12031
      Location:2219 – 2689
      Blast Score: 698
      Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p10 Primary Assembly

      Range
      133879205..134147143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      129197896..129466621
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018919.1 Alternate CHM1_1.0

      Range
      134153047..134420975
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01014200.1 (20231..43678) None
    genomic ABBA01014201.1 None
    genomic ABBA01014202.1 None
    genomic ABBA01014203.1 None
    genomic ABBA01014204.1 None
    genomic AF080484.1 AAD50912.2
    genomic AF230666.2 (65808..86867) None
    genomic AF230667.3 (23859..97168) None
    genomic AF235100.4 (31094..90874) None
    genomic AF237421.1 AAF64045.1
    genomic AF255396.1 AAF71743.1
    genomic AF305872.2 (20428..134215) None
    genomic AMYH01019037.1 (248391..516319) None
    genomic CH471060.1 EAW92156.1
      EAW92157.1
      EAW92158.1
    genomic X02749.1 CAA26527.1
    mRNA AB209159.1 BAD92396.1
    mRNA AK299197.1 BAH12966.1
    mRNA AK303666.1 BAG64665.1
    mRNA AK303667.1 BAG64666.1
    mRNA AU141420.1 None
    mRNA AU141607.1 None
    mRNA AU141923.1 None
    mRNA AU142151.1 None
    mRNA BC127887.1 AAI27888.1
    mRNA BC140933.1 AAI40934.1
    mRNA S40807.1 AAB22685.1
    mRNA S80793.1 AAB50656.1
    mRNA U93033.2 AAC51924.1
    mRNA X02154.1 CAA26089.1
    mRNA X05615.1 CAA29104.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P01266.5 GenPept UniProtKB/Swiss-Prot:P01266

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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      Supplemental Content

      Table of contents

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        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
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        Full text in PubMedCentral identified from shared sequence links
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        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
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        Link to Protein RefSeqs
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        Link to related taxonomy entry
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        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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