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    TG thyroglobulin [ Homo sapiens (human) ]

    Gene ID: 7038, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TGprovided by HGNC
    Official Full Name
    thyroglobulinprovided by HGNC
    Primary source
    HGNC:HGNC:11764
    See related
    Ensembl:ENSG00000042832 MIM:188450; AllianceGenome:HGNC:11764
    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]
    Expression
    Restricted expression toward thyroid (RPKM 4323.9) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8q24.22
    Exon count:
    52
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (132866958..133134899)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (133990136..134258223)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (133879203..134147143)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene dynein axonemal assembly factor 11 Neighboring gene uncharacterized LOC105375767 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:133699646-133700172 Neighboring gene transmembrane protein 71 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:133787363-133787864 Neighboring gene PHD finger protein 20 like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:133894667-133895168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:133895169-133895668 Neighboring gene uncharacterized LOC105375768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27992 Neighboring gene ribosomal protein L21 pseudogene 78 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:134061257-134062456 Neighboring gene microRNA 7848 Neighboring gene papillary thyroid carcinoma susceptibility candidate 1 Neighboring gene Src like adaptor Neighboring gene uncharacterized LOC105375769 Neighboring gene NANOG hESC enhancer GRCh37_chr8:134157066-134157567 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134194436-134195635 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:134204154-134204401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134208271-134208770 Neighboring gene uncharacterized LOC102723635 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134224019-134225218 Neighboring gene cellular communication network factor 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Exon 33 T/T genotype of the thyroglobulin gene is a susceptibility gene for Graves' disease in Taiwanese and exon 12 C/C genotype protects against it. Hsiao JY, et al. Clin Exp Med, 2008 Mar. PMID 18385936
    2. Mutations of the thyroglobulin gene and its relevance to thyroid disorders. Rubio IG, et al. Curr Opin Endocrinol Diabetes Obes, 2009 Oct. PMID 19633549
    3. The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation. Pardo V, et al. J Clin Endocrinol Metab, 2009 Aug. PMID 19509106
    4. Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7. Machiavelli GA, et al. Clin Endocrinol (Oxf), 2010 Jan. PMID 19438905
    5. Identification of a neck lump as a lymph node metastasis from an occult contralateral papillary microcarcinoma of the thyroid: key role of thyroglobulin assay in the fine-needle aspirate. Bruno R, et al. Thyroid, 2009 May. PMID 19416000

    See all (210) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Diagnostic value of thyroglobulin washout in fine-needle aspiration samples for diagnosis and follow-up of differentiated thyroid cancer.
      Title: Diagnostic value of thyroglobulin washout in fine-needle aspiration samples for diagnosis and follow-up of differentiated thyroid cancer.
    2. Lymph node ratio independently associated with postoperative thyroglobulin levels in papillary thyroid cancer.
      Title: Lymph node ratio independently associated with postoperative thyroglobulin levels in papillary thyroid cancer.
    3. [Analysis of pre-ablative and preoperative thyroglobulin in differentiated thyroid cancer].
      Title: [Analysis of pre-ablative and preoperative thyroglobulin in differentiated thyroid cancer].
    4. The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism.
      Title: The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism.
    5. Serum thyroglobulin as a biomarker of iodine excess and thyroid disease occurrence in adults.
      Title: Serum thyroglobulin as a biomarker of iodine excess and thyroid disease occurrence in adults.
    6. The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.
      Title: The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.
    7. Clinical features of multifocal papillary thyroid carcinoma and risk factors of cervical metastatic lymph nodes.
      Title: Clinical features of multifocal papillary thyroid carcinoma and risk factors of cervical metastatic lymph nodes.
    8. Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.
      Title: Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.
    9. TSH stimulation of human thyroglobulin and thyroid peroxidase gene transcription is partially dependent on internalization.
      Title: TSH stimulation of human thyroglobulin and thyroid peroxidase gene transcription is partially dependent on internalization.
    10. Predictive Value of Serum Thyroglobulin for Structural Recurrence Following Lobectomy for Papillary Thyroid Carcinoma.
      Title: Predictive Value of Serum Thyroglobulin for Structural Recurrence Following Lobectomy for Papillary Thyroid Carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (147)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autoimmune thyroid disease, susceptibility to, 3
    MedGen: C1842444 OMIM: 608175 GeneReviews: Not available
    		not available
    Iodotyrosyl coupling defect
    MedGen: C0342194 OMIM: 274700 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
    EBI GWAS Catalog
    Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
    EBI GWAS Catalog
    Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in hormone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in iodide transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in thyroid gland development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in thyroid hormone generation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in thyroid hormone generation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in thyroid hormone generation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    thyroglobulin

    NCBI Reference Sequences (RefSeq)

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    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_015832.2 RefSeqGene

      Range
      5002..272943
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003235.5 → NP_003226.4  thyroglobulin precursor

      See identical proteins and their annotated locations for NP_003226.4

      Status: REVIEWED

      Source sequence(s)
      AF230666, AU141420, AU141607, AU141923, AU142151, U93033, X05615
      Consensus CDS
      CCDS34944.1
      UniProtKB/Swiss-Prot
      O15274, O43899, P01266, Q15593, Q15948, Q9NYR1, Q9NYR2, Q9UMZ0, Q9UNY3
      UniProtKB/TrEMBL
      B2RU26
      Related
      ENSP00000220616.4, ENST00000220616.9
      Conserved Domains (6) summary
      smart00211
      Location:1520 → 1567
      TY; Thyroglobulin type I repeats
      cd00191
      Location:95 → 160
      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
      pfam00086
      Location:662 → 724
      Thyroglobulin_1; Thyroglobulin type-1 repeat
      pfam00135
      Location:2197 → 2718
      COesterase; Carboxylesterase family
      pfam07699
      Location:1465 → 1510
      Ephrin_rec_like; Putative ephrin-receptor like
      cl00150
      Location:892 → 922
      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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      132866958..133134899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013794.2 → XP_016869283.1  thyroglobulin isoform X3

      UniProtKB/TrEMBL
      B2RU26

    2. XM_006716622.4 → XP_006716685.1  thyroglobulin isoform X1

      UniProtKB/TrEMBL
      B2RU26
      Conserved Domains (6) summary
      smart00211
      Location:1520 → 1567
      TY; Thyroglobulin type I repeats
      cd00191
      Location:95 → 160
      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
      pfam00086
      Location:662 → 724
      Thyroglobulin_1; Thyroglobulin type-1 repeat
      pfam00135
      Location:2175 → 2697
      COesterase; Carboxylesterase family
      pfam07699
      Location:1465 → 1510
      GCC2_GCC3; GCC2 and GCC3
      cl00150
      Location:892 → 922
      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

    3. XM_017013793.2 → XP_016869282.1  thyroglobulin isoform X2

      UniProtKB/TrEMBL
      B2RU26

    4. XM_005251038.5 → XP_005251095.1  thyroglobulin isoform X5

      UniProtKB/TrEMBL
      B2RU26
      Conserved Domains (6) summary
      smart00211
      Location:1520 → 1567
      TY; Thyroglobulin type I repeats
      cd00191
      Location:95 → 160
      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
      pfam00086
      Location:662 → 724
      Thyroglobulin_1; Thyroglobulin type-1 repeat
      pfam00135
      Location:2132 → 2654
      COesterase; Carboxylesterase family
      pfam07699
      Location:1465 → 1510
      GCC2_GCC3; GCC2 and GCC3
      cl00150
      Location:892 → 922
      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

    5. XM_017013795.2 → XP_016869284.1  thyroglobulin isoform X4

      UniProtKB/TrEMBL
      B2RU26

    6. XM_017013796.2 → XP_016869285.1  thyroglobulin isoform X6

      UniProtKB/TrEMBL
      B2RU26

    7. XM_017013798.2 → XP_016869287.1  thyroglobulin isoform X8

      UniProtKB/TrEMBL
      B2RU26

    8. XM_017013800.2 → XP_016869289.1  thyroglobulin isoform X12

      Conserved Domains (5) summary
      smart00211
      Location:1520 → 1567
      TY; Thyroglobulin type I repeats
      cd00191
      Location:95 → 160
      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
      pfam00086
      Location:662 → 724
      Thyroglobulin_1; Thyroglobulin type-1 repeat
      pfam07699
      Location:1465 → 1510
      GCC2_GCC3; GCC2 and GCC3
      cl00150
      Location:892 → 922
      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

    9. XM_005251040.5 → XP_005251097.1  thyroglobulin isoform X9

      Conserved Domains (5) summary
      smart00211
      Location:1520 → 1567
      TY; Thyroglobulin type I repeats
      cd00191
      Location:95 → 160
      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
      pfam00086
      Location:662 → 724
      Thyroglobulin_1; Thyroglobulin type-1 repeat
      pfam07699
      Location:1465 → 1510
      GCC2_GCC3; GCC2 and GCC3
      cl00150
      Location:892 → 922
      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

    10. XM_017013799.2 → XP_016869288.1  thyroglobulin isoform X10

    11. XM_005251042.5 → XP_005251099.1  thyroglobulin isoform X11

      Conserved Domains (5) summary
      smart00211
      Location:1520 → 1567
      TY; Thyroglobulin type I repeats
      cd00191
      Location:95 → 160
      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
      pfam00086
      Location:662 → 724
      Thyroglobulin_1; Thyroglobulin type-1 repeat
      pfam07699
      Location:1465 → 1510
      GCC2_GCC3; GCC2 and GCC3
      cl00150
      Location:892 → 922
      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

    12. XM_047422166.1 → XP_047278122.1  thyroglobulin isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      133990136..134258223
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361125.1 → XP_054217100.1  thyroglobulin isoform X3

    2. XM_054361123.1 → XP_054217098.1  thyroglobulin isoform X1

    3. XM_054361124.1 → XP_054217099.1  thyroglobulin isoform X2

    4. XM_054361127.1 → XP_054217102.1  thyroglobulin isoform X5

    5. XM_054361126.1 → XP_054217101.1  thyroglobulin isoform X4

    6. XM_054361128.1 → XP_054217103.1  thyroglobulin isoform X6

    7. XM_054361130.1 → XP_054217105.1  thyroglobulin isoform X8

    8. XM_054361132.1 → XP_054217107.1  thyroglobulin isoform X10

    9. XM_054361131.1 → XP_054217106.1  thyroglobulin isoform X9

    10. XM_054361134.1 → XP_054217109.1  thyroglobulin isoform X12

    11. XM_054361133.1 → XP_054217108.1  thyroglobulin isoform X11

    12. XM_054361129.1 → XP_054217104.1  thyroglobulin isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P01266.5 GenPept UniProtKB/Swiss-Prot:P01266

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