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TG thyroglobulin [ Homo sapiens (human) ]

Gene ID: 7038, updated on 5-Mar-2019

Summary

Official Symbol
TGprovided by HGNC
Official Full Name
thyroglobulinprovided by HGNC
Primary source
HGNC:HGNC:11764
See related
Ensembl:ENSG00000042832 MIM:188450
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

Genomic context

Location:
8q24.22
Exon count:
52
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (132866943..133134902)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (133879149..134147146)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 71 Neighboring gene PHD finger protein 20 like 1 Neighboring gene uncharacterized LOC105375768 Neighboring gene ribosomal protein L21 pseudogene 78 Neighboring gene microRNA 7848 Neighboring gene papillary thyroid carcinoma susceptibility candidate 1 Neighboring gene Src like adaptor Neighboring gene uncharacterized LOC105375769 Neighboring gene uncharacterized LOC102723635 Neighboring gene cellular communication network factor 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autoimmune thyroid disease 3
MedGen: C1842444 OMIM: 608175 GeneReviews: Not available
Compare labs
Iodotyrosyl coupling defect
MedGen: C0342194 OMIM: 274700 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • 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...
  • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
    Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Thyroid hormone synthesis, conserved biosystem (from KEGG)
    Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Thyroxine (Thyroid Hormone) Production, organism-specific biosystem (from WikiPathways)
    Thyroxine (Thyroid Hormone) Production, organism-specific biosystemThyroxine hormone is produced in the thyroid gland from tyrosine and iodine. Thyrotropin-releasing hormone (TRH) is produced by the hypothalamus. It stimulates the production of thyroid-stimulating h...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hormone activity IEA
Inferred from Electronic Annotation
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
 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
thyroid gland development IEP
Inferred from Expression Pattern
more info
PubMed 
thyroid hormone metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_003235.5NP_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
    P01266
    Related
    ENSP00000220616.4, ENST00000220616.8
    Conserved Domains (6) summary
    smart00211
    Location:15201567
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    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:662724
    Thyroglobulin_1; Thyroglobulin type-1 repeat
    pfam00135
    Location:21962718
    COesterase; Carboxylesterase family
    pfam07699
    Location:14651510
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    132866943..133134902
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013794.1XP_016869283.1  thyroglobulin isoform X3

  2. XM_006716622.3XP_006716685.1  thyroglobulin isoform X1

    Conserved Domains (6) summary
    smart00211
    Location:15201567
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    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:662724
    Thyroglobulin_1; Thyroglobulin type-1 repeat
    pfam00135
    Location:21752697
    COesterase; Carboxylesterase family
    pfam07699
    Location:14651510
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    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_017013793.1XP_016869282.1  thyroglobulin isoform X2

  4. XM_005251038.4XP_005251095.1  thyroglobulin isoform X5

    Conserved Domains (6) summary
    smart00211
    Location:15201567
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    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:662724
    Thyroglobulin_1; Thyroglobulin type-1 repeat
    pfam00135
    Location:21322654
    COesterase; Carboxylesterase family
    pfam07699
    Location:14651510
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    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_017013795.1XP_016869284.1  thyroglobulin isoform X4

    UniProtKB/Swiss-Prot
    P01266
  6. XM_017013796.1XP_016869285.1  thyroglobulin isoform X6

  7. XM_017013798.1XP_016869287.1  thyroglobulin isoform X8

  8. XM_005251040.4XP_005251097.1  thyroglobulin isoform X9

    Conserved Domains (5) summary
    smart00211
    Location:15201567
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    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:662724
    Thyroglobulin_1; Thyroglobulin type-1 repeat
    pfam07699
    Location:14651510
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    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_017013799.1XP_016869288.1  thyroglobulin isoform X10

  10. XM_017013800.1XP_016869289.1  thyroglobulin isoform X12

    Conserved Domains (5) summary
    smart00211
    Location:15201567
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    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:662724
    Thyroglobulin_1; Thyroglobulin type-1 repeat
    pfam07699
    Location:14651510
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    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
  11. XM_005251042.4XP_005251099.1  thyroglobulin isoform X11

    Conserved Domains (5) summary
    smart00211
    Location:15201567
    TY; Thyroglobulin type I repeats
    cd00191
    Location:95160
    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:662724
    Thyroglobulin_1; Thyroglobulin type-1 repeat
    pfam07699
    Location:14651510
    GCC2_GCC3; GCC2 and GCC3
    cl00150
    Location:892922
    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_017013797.1XP_016869286.1  thyroglobulin isoform X7

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