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TG Gene(Protein Coding)

Thyroglobulin

GCID:
GC08P132866
GIFtS:
61
Genes Participants
UDN Logo

Aliases for TG Gene

Aliases for TG Gene

  • Thyroglobulin 2 3 3 5
  • AITD3 3
  • TGN 3
  • Tg 4

External Ids for TG Gene

Previous GeneCards Identifiers for TG Gene

  • GC08P132608
  • GC08P133966
  • GC08P133550
  • GC08P133835
  • GC08P133948
  • GC08P129197
  • GC08P133879

Summaries for TG Gene

Entrez Gene Summary for TG Gene

  • 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]

GeneCards Summary for TG Gene

TG (Thyroglobulin) is a Protein Coding gene. Diseases associated with TG include Thyroid Dyshormonogenesis 3 and Autoimmune Thyroid Disease 3. Among its related pathways are Thyroxine (Thyroid Hormone) Production and Allograft rejection. GO annotations related to this gene include hormone activity and carboxylic ester hydrolase activity.

UniProtKB/Swiss-Prot for TG Gene

  • Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3).

Gene Wiki entry for TG Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TG Gene

Genomics for TG Gene

Products:

  1. Regulatory Element

Regulatory Elements for TG Gene

Enhancers for TG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G133051 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.1 +197.8 197760 25.8 CTCF PKNOX1 ZNF146 MAX RAD21 GATA3 POLR2A FOS MAFK RFX1 TG WISP1 SLA TMEM71 PHF20L1 ENSG00000270137 GC08P133054 GC08P133070
GH08G133031 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.4 +168.1 168095 6.7 TBP SIN3A RAD21 RFX5 GATA2 SMARCC2 RCOR1 FOS DEK SMARCC1 TG PHF20L1 WISP1 SLA ENSG00000223697 TMEM71 GC08P133037 LOC105375768
GH08G133128 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +263.0 262974 3.4 ELF3 ZNF792 CEBPG RAD21 ZNF644 HBP1 FOS ZNF652 HOMEZ THAP11 WISP1 TG SLA ST3GAL1 PHF20L1 NDRG1 LOC105375769 GC08P133116
GH08G133045 1.4 FANTOM5 ENCODE dbSUPER 14.4 +179.4 179371 1.3 RB1 SMARCC1 USF2 CEBPB ZNF592 TFDP1 RAD51 MAFF ZNF589 SMARCA4 TG SLA WISP1 TMEM71 PHF20L1 MIR7848 GC08P133041
GH08G133215 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +350.6 350574 3.0 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 YY1 SLC30A9 FOS SP5 WISP1 NDRG1 TG ST3GAL1 GC08M133212 LOC102723635
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TG on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TG gene promoter:

Genomic Location for TG Gene

Chromosome:
8
Start:
132,866,935 bp from pter
End:
133,134,903 bp from pter
Size:
267,969 bases
Orientation:
Plus strand

Genomic View for TG Gene

Genes around TG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TG Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TG Gene

Proteins for TG Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for TG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01266-THYG_HUMAN
    Recommended name:
    Thyroglobulin
    Protein Accession:
    P01266
    Secondary Accessions:
    • O15274
    • O43899
    • Q15593
    • Q15948
    • Q9NYR1
    • Q9NYR2
    • Q9UMZ0
    • Q9UNY3

    Protein attributes for TG Gene

    Size:
    2768 amino acids
    Molecular mass:
    304790 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for TG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TG Gene

Protein Expression for TG Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TG Gene

  • Sulfated tyrosines are desulfated during iodination.
  • Glycosylation at isoforms=276, Asn198, posLast=484484, posLast=529529, isoforms=2748, posLast=816816, Asn947, isoforms=21220, posLast=13481348, posLast=13491349, posLast=13651365, Asn1716, Asn1774, isoforms=22013, isoforms=22250, Asn2295, isoforms=22582, and isoforms=22749
  • Modification sites at PhosphoSitePlus

Other Protein References for TG Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TG Gene

Domains & Families for TG Gene

Protein Domains for TG Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01266

UniProtKB/Swiss-Prot:

THYG_HUMAN :
  • Belongs to the type-B carboxylesterase/lipase family.
Family:
  • Belongs to the type-B carboxylesterase/lipase family.
genes like me logo Genes that share domains with TG: view

No data available for Gene Families for TG Gene

Function for TG Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for TG Gene

GENATLAS Biochemistry:
thyroglobulin,precursor of thyroid hormone,involved in storage of iodine and of inactive thyroid hormones
UniProtKB/Swiss-Prot Function:
Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3).

Gene Ontology (GO) - Molecular Function for TG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
genes like me logo Genes that share ontologies with TG: view
genes like me logo Genes that share phenotypes with TG: view

Human Phenotype Ontology for TG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TG Gene

Localization for TG Gene

Subcellular locations from UniProtKB/Swiss-Prot for TG Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TG gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for TG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
genes like me logo Genes that share ontologies with TG: view

Pathways & Interactions for TG Gene

genes like me logo Genes that share pathways with TG: view

Pathways by source for TG Gene

1 BioSystems pathway for TG Gene

Gene Ontology (GO) - Biological Process for TG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 3016640
GO:0015705 iodide transport IEA --
GO:0030878 thyroid gland development IEP 15494458
GO:0031641 regulation of myelination IEA --
GO:0042403 thyroid hormone metabolic process IEA --
genes like me logo Genes that share ontologies with TG: view

No data available for SIGNOR curated interactions for TG Gene

Drugs & Compounds for TG Gene

Products:

  1. Drug

(62) Drugs for TG Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluoxetine Approved, Vet_approved Pharma Channel blocker 238
Uric Acid Experimental, Investigational Pharma 141
Anticholesteremic Agents Pharma 2025
Antidepressive Agents Pharma 2736
Antimetabolites Pharma 12054

(51) Additional Compounds for TG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TG: view

Transcripts for TG Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for TG Gene

(13) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(1041) Selected AceView cDNA sequences:
(20) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TG Gene

Thyroglobulin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TG Gene

No ASD Table

Relevant External Links for TG Gene

GeneLoc Exon Structure for
TG
ECgene alternative splicing isoforms for
TG

Expression for TG Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TG Gene

mRNA expression in normal human tissues for TG Gene
mRNA expression by BioGPS for TG GenemRNA expression by GTEx for TG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TG Gene

This gene is overexpressed in Thyroid (x52.1).

Protein differential expression in normal tissues from HIPED for TG Gene

This gene is overexpressed in Thyroid (68.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TG Gene



NURSA nuclear receptor signaling pathways regulating expression of TG Gene:

TG

SOURCE GeneReport for Unigene cluster for TG Gene:

Hs.654591

mRNA Expression by UniProt/SwissProt for TG Gene:

P01266-THYG_HUMAN
Tissue specificity: Thyroid gland specific.

Evidence on tissue expression from TISSUES for TG Gene

  • Thyroid gland(5)
  • Heart(3.7)
  • Kidney(3.3)
  • Lymph node(3.2)
  • Intestine(3)
  • Blood(2.6)
  • Adrenal gland(2.5)
  • Lung(2.5)
  • Nervous system(2.2)
  • Liver(2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
Thorax:
  • breast
  • heart
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
Pelvis:
  • ovary
  • rectum
  • urinary bladder
  • uterus
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with TG: view

Primer Products

No data available for Protein tissue co-expression partners for TG Gene

Orthologs for TG Gene

This gene was present in the common ancestor of animals.

Orthologs for TG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia TG 34 35
  • 98.93 (n)
dog
(Canis familiaris)
 Mammalia TG 34 35
  • 82.42 (n)
cow
(Bos Taurus)
 Mammalia TG 34 35
  • 82.08 (n)
mouse
(Mus musculus)
 Mammalia Tg 34 16 35
  • 78.6 (n)
rat
(Rattus norvegicus)
 Mammalia Tg 34
  • 78.02 (n)
oppossum
(Monodelphis domestica)
 Mammalia TG 35
  • 63 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TG 35
  • 51 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TG 34 35
  • 61.3 (n)
lizard
(Anolis carolinensis)
 Reptilia TG 35
  • 53 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia tg 34
  • 55.55 (n)
zebrafish
(Danio rerio)
 Actinopterygii tg 34 35
  • 52.54 (n)
fruit fly
(Drosophila melanogaster)
 Insecta alpha-Est8 35
  • 18 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea Y75B8A.3 35
  • 12 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 17 (a)
 OneToOne
Species where no ortholog for TG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TG Gene

ENSEMBL:
Gene Tree for TG (if available)
TreeFam:
Gene Tree for TG (if available)

Paralogs for TG Gene

No data available for Paralogs for TG Gene

Variants for TG Gene

Sequence variations from dbSNP and Humsavar for TG Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs121912649 Pathogenic, Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] 132,967,797(+) AGGTT(A/G)TGTGC reference, missense
rs121912650 Pathogenic, Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] 133,022,121(+) CTACC(A/G)AGTGG reference, missense
rs137854434 Pathogenic, Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] 133,029,907(+) TTGGC(A/G)GGGAC reference, missense
rs2076738 Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] 132,906,843(+) TGATA(C/T)GTAGC reference, missense
rs2076739 Pathogenic, Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] 132,971,804(+) TTGAA(A/T)GTGAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TG Gene

Variant ID Type Subtype PubMed ID
dgv2116e212 CNV loss 25503493
esv1530894 CNV insertion 17803354
esv2622999 CNV insertion 19546169
esv32666 CNV gain 17666407
esv32776 CNV gain 17666407
esv32991 CNV loss 17666407
esv33367 CNV loss 17666407
esv33548 CNV gain 17666407
esv33561 CNV loss 17666407
esv3573001 CNV loss 25503493
esv3573002 CNV loss 25503493
esv3618883 CNV loss 21293372
esv3618884 CNV loss 21293372
esv6449 OTHER inversion 19470904
nsv465818 CNV loss 19166990
nsv473380 CNV novel sequence insertion 20440878
nsv482993 CNV loss 15286789
nsv509279 CNV insertion 20534489
nsv525105 CNV loss 19592680
nsv526697 CNV loss 19592680
nsv612328 CNV loss 21841781
nsv6402 CNV insertion 18451855
nsv6403 CNV insertion 18451855
nsv831463 CNV gain 17160897
nsv949988 CNV duplication 24416366
nsv981981 CNV duplication 23825009

Variation tolerance for TG Gene

Residual Variation Intolerance Score: 99.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.54; 98.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TG Gene

Human Gene Mutation Database (HGMD)
TG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TG Gene

Disorders for TG Gene

MalaCards: The human disease database

(90) MalaCards diseases for TG Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thyroid dyshormonogenesis 3
  • tdh3
autoimmune thyroid disease 3
  • aitd3
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
goiter
  • goitre
hypothyroidism
  • thyroid deficiency
- elite association - COSMIC cancer census association via MalaCards
Search TG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

THYG_HUMAN
  • Autoimmune thyroid disease 3 (AITD3) [MIM:608175]: A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism. {ECO:0000269 PubMed:14657345}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]: A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases. {ECO:0000269 PubMed:10199792, ECO:0000269 PubMed:16477365, ECO:0000269 PubMed:17244789, ECO:0000269 PubMed:17532758, ECO:0000269 PubMed:19509106}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for TG Gene

goiter associated to hypothyroidism and variant type of adenomatous goiter

Relevant External Links for TG

Genetic Association Database (GAD)
TG
Human Genome Epidemiology (HuGE) Navigator
TG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TG
genes like me logo Genes that share disorders with TG: view

Publications for TG Gene

  1. The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation. (PMID: 19509106) Pardo V. … Medeiros-Neto G. (J. Clin. Endocrinol. Metab. 2009) 3 4 22 64
  2. Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. (PMID: 17532758) Caputo M. … Targovnik H.M. (Clin. Endocrinol. (Oxf.) 2007) 3 4 22 64
  3. A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. (PMID: 16477365) Kitanaka S. … Igarashi T. (J. Hum. Genet. 2006) 3 4 22 64
  4. Possible interaction between HLA-DRbeta1 and thyroglobulin variants in Graves' disease. (PMID: 16646680) Hodge S.E. … Tomer Y. (Thyroid 2006) 3 22 46 64
  5. Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. (PMID: 10199792) Hishinuma A. … Ieiri T. (J. Clin. Endocrinol. Metab. 1999) 3 4 22 64

Products for TG Gene

Sources for TG Gene

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