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TG thyroglobulin [ Homo sapiens (human) ]

Gene ID: 7038, updated on 3-Apr-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
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Genomic context

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Location:
8q24.22
Exon count:
52
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (132866958..133134899)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (133990136..134258223)
105.20220307 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. The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism. Gomes Pio M, et al. Mol Cell Endocrinol, 2023 Jul 15. PMID 37164149
  2. Serum thyroglobulin as a biomarker of iodine excess and thyroid disease occurrence in adults. Du Y, et al. J Trace Elem Med Biol, 2023 Jul. PMID 37043922
  3. Clinical features of multifocal papillary thyroid carcinoma and risk factors of cervical metastatic lymph nodes. Ni Y, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban, 2022 Apr 25. PMID 36161301, Free PMC Article
  4. Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect. Bernal Barquero CE, et al. Int J Mol Sci, 2022 Aug 17. PMID 36012511, Free PMC Article
  5. Cryo-EM structure of native human thyroglobulin. Adaixo R, et al. Nat Commun, 2022 Jan 10. PMID 35013249, Free PMC Article

See all (206) 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
Compare labs
Iodotyrosyl coupling defect
MedGen: C0342194 OMIM: 274700 GeneReviews: Not available
Compare labs

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)

Genotypes

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_2023_10

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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