TG Gene (Protein Coding)

Thyroglobulin

GC08P132866
GIFtS:
43
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 follic... See more...

Aliases for TG Gene

Aliases for TG Gene

  • Thyroglobulin 2 3 4 5
  • AITD3 2 3
  • TGN 2 3
  • TG 5
  • 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 Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include hormone activity and carboxylic ester hydrolase activity. An important paralog of this gene is NLGN3.

UniProtKB/Swiss-Prot Summary for TG Gene

  • Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3) (PubMed:32025030, PubMed:17532758). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin followed by their oxidative coupling in the thyroid follicle lumen (PubMed:32025030). Following TG re-internalization and lysosomal-mediated proteolysis, T3 and T4 are released from the polypeptide backbone leading to their secretion into the bloodstream (PubMed:32025030). One dimer produces 7 thyroid hormone molecules (PubMed:32025030).

Gene Wiki entry for TG Gene

Additional gene information for TG Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TG Gene

Genomics for TG Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TG Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08J132191 Promoter 0.4 EPDnew 250 -675.0 -675048 0.1 CTCF TG lnc-HHLA1-2 lnc-HHLA1-3 HSALNG0068671 HHLA1 KCNQ3
GH08J132866 Promoter 0.3 EPDnew 250.7 0.0 -4 0.1 HSALNG0068703 TG HSALNG0068702 TMEM71
GH08J133051 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 24.1 +197.8 197751 25.8 CEBPA IRF4 RXRA SPI1 BATF POLR2A MAFK MYC MAX HNF4A SLA TG CCN4 TMEM71 PHF20L1 ENSG00000270137 5MWI_A-169 PTCSC1 lnc-NDRG1-4
GH08J133031 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.4 +168.0 168045 6.8 DEK ZNF217 CEBPB MAX EP300 RXRA RAD21 CTBP1 RFX5 SMC3 TG PHF20L1 CCN4 SLA ENSG00000223697 TMEM71 lnc-NDRG1-6 LOC105375768
GH08J133128 Promoter/Enhancer 1.4 EPDnew FANTOM5 ENCODE dbSUPER 12.8 +263.0 262966 3.4 CEBPA CEBPB VEZF1 ETV4 JUND POLR2A HMG20A HNF4A HBP1 ZNF652 SLA CCN4 TG ST3GAL1 PHF20L1 NDRG1 HSALNG0068720 HSALNG0068723 HSALNG0068721
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TG

Top Transcription factor binding sites by QIAGEN in the TG gene promoter:
  • AP-1
  • ATF-2
  • ATF6
  • c-Jun
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • Nkx2-5

Genomic Locations for TG Gene

Latest Assembly
chr8:132,866,943-133,134,903
(GRCh38/hg38)
Size:
267,961 bases
Orientation:
Plus strand

Previous Assembly
chr8:133,879,203-134,147,143
(GRCh37/hg19 by Entrez Gene)
Size:
267,941 bases
Orientation:
Plus strand

chr8:133,879,203-134,147,147
(GRCh37/hg19 by Ensembl)
Size:
267,945 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. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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:
    • Monomer (PubMed:32025030). Homodimer (via ChEL region); occurs in the endoplasmic reticulum and is required for export to the Golgi apparatus (PubMed:32025030). Homooligomer; disulfide-linked; stored in this form in the thyroid follicle lumen (PubMed:8626858).

    Three dimensional structures from OCA and Proteopedia for TG Gene

    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

  • Iodinated on tyrosine residues by TPO (PubMed:2760035, PubMed:32025030). There are 4 pairs of iodinated tyrosines used for coupling: acceptor Tyr-24 is coupled to donor Tyr-149 or Tyr-234, acceptor Tyr-2573 is coupled to donor Tyr-2540, acceptor Tyr-2766 in monomer 1 is coupled to donor Tyr-2766 in monomer 2 and acceptor Tyr-1310 in monomer 1 is coupled to donor Tyr-108 in monomer 2 (PubMed:32025030).
  • Sulfated tyrosines are desulfated during iodination.
  • Undergoes sequential proteolysis by cathepsins to release thyroxine (T4) and triiodothyronine (T3) hormones. In the thyroid follicle lumen, cross-linked TG (storage form) is solubilized by limited proteolysis mediated by cathepsins CTSB and/or CTSL. Partially cleaved TG is further processed by CTSK/cathepsin K and/or CTSL resulting in the release of T4. Following endocytosis, further processing occurs leading to the release of T3 and more T4 hormones.
  • Glycosylation at Asn76, Asn110, Asn198, Asn484, Asn529, Asn748, Asn816, Asn947, Asn1220, Asn1348, Asn1349, Asn1365, Asn1716, Asn1774, Asn1869, Asn2013, Asn2122, Asn2250, Asn2295, Asn2582, and Ser2749
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • THYG_HUMAN (600)

Other Protein References for TG Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Invitrogen Antibodies for TG (AFLGC-TG)

No data available for DME Specific Peptides for TG Gene

Domains & Families for TG Gene

Gene Families for TG Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for TG Gene

InterPro:
Blocks:
  • Thyroglobulin type-1
ProtoNet:

Suggested Antigen Peptide Sequences for TG Gene

GenScript: Design optimal peptide antigens:
  • TG protein (A1L1A0_HUMAN)
  • Thyroglobulin (B2RU26_HUMAN)
  • Thyroglobulin (THYG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P01266

UniProtKB/Swiss-Prot:

THYG_HUMAN :
  • The cholinesterase-like (ChEL) region is required for dimerization and export from the endoplasmic reticulum.
  • Belongs to the type-B carboxylesterase/lipase family.
Domain:
  • The cholinesterase-like (ChEL) region is required for dimerization and export from the endoplasmic reticulum.
Family:
  • Belongs to the type-B carboxylesterase/lipase family.
genes like me logo Genes that share domains with TG: view

Function for TG Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for TG Gene

UniProtKB/Swiss-Prot Function:
Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3) (PubMed:32025030, PubMed:17532758). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin followed by their oxidative coupling in the thyroid follicle lumen (PubMed:32025030). Following TG re-internalization and lysosomal-mediated proteolysis, T3 and T4 are released from the polypeptide backbone leading to their secretion into the bloodstream (PubMed:32025030). One dimer produces 7 thyroid hormone molecules (PubMed:32025030).
GENATLAS Biochemistry:
thyroglobulin,precursor of thyroid hormone,involved in storage of iodine and of inactive thyroid hormones

Phenotypes From GWAS Catalog for TG Gene

Gene Ontology (GO) - Molecular Function for TG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
GO:0005515 protein binding IPI 18687776
GO:0042802 identical protein binding IEA,IDA 8626858
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

Animal Models for research

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. Note=Secreted into the thyroid follicle lumen (PubMed:19509106). Localizes to colloid globules, a structure formed in the thyroid follicle lumen consisting of cross-linked TG arranged in concentric layers (PubMed:8626858, PubMed:11082042). {ECO:0000269 PubMed:11082042, ECO:0000269 PubMed:19509106, ECO:0000269 PubMed:8626858}.

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
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for TG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
GO:0005615 extracellular space IEA,IDA 8626858
genes like me logo Genes that share ontologies with TG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TG Gene

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

SIGNOR curated interactions for TG Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006590 thyroid hormone generation IEA,ISS --
GO:0007165 signal transduction NAS 3016640
GO:0015705 iodide transport IEA --
GO:0030878 thyroid gland development IEP 15494458
GO:0031641 regulation of myelination IEA --
genes like me logo Genes that share ontologies with TG: view

Drugs & Compounds for TG Gene

Products:

  1. Drug products for research

(73) Drugs for TG Gene - From: DrugBank, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iodine Approved, Investigational Pharma Carrier, binder 894
Atorvastatin Approved Pharma 919
Fennel Approved, Experimental Pharma 6
Fluoxetine Approved, Vet_approved Pharma 287
Metformin Approved Pharma AMP-activated protein kinase (AMPK) activator 2290

(43) 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 products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for TG Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

No ASD Table

Relevant External Links for TG Gene

GeneLoc Exon Structure for
TG

Expression for TG Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TG

SOURCE GeneReport for Unigene cluster for TG Gene:

Hs.654591

mRNA Expression by UniProt/SwissProt for TG Gene:

P01266-THYG_HUMAN
Tissue specificity: Specifically expressed in the thyroid gland.

Evidence on tissue expression from TISSUES for TG Gene

  • Thyroid gland(5)
  • Heart(4)
  • Kidney(3.5)
  • Intestine(3.4)
  • Lymph node(3.1)
  • Adrenal gland(2.9)
  • Blood(2.7)
  • Nervous system(2.6)
  • Muscle(2.5)
  • Liver(2.4)
  • Pancreas(2.2)
  • Lung(2.2)
  • Urine(2.1)
  • Skin(2.1)
  • Stomach(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
Regions:
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 for research

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 30 31
  • 98.93 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TG 30 31
  • 82.42 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TG 30 31
  • 82.08 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tg 30 17 31
  • 78.6 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tg 30
  • 78.02 (n)
Oppossum
(Monodelphis domestica)
 Mammalia TG 31
  • 63 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TG 31
  • 51 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TG 30 31
  • 61.3 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TG 31
  • 53 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tg 30
  • 55.55 (n)
Zebrafish
(Danio rerio)
 Actinopterygii tg 30 31
  • 52.54 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta alpha-Est8 31
  • 18 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea Y75B8A.3 31
  • 12 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 17 (a)
 OneToOne
Species where no ortholog for TG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TG: view image

Paralogs for TG Gene

Paralogs for TG Gene

(9) SIMAP similar genes for TG Gene using alignment to 13 proteins:

  • THYG_HUMAN
  • A1L1A0_HUMAN
  • B2RU26_HUMAN
  • E5RG33_HUMAN
  • E7EVM0_HUMAN
  • F5GWW5_HUMAN
  • H0YB42_HUMAN
  • H0YBC5_HUMAN
  • H0YBJ2_HUMAN
  • H0YBL4_HUMAN
  • H0YBQ6_HUMAN
  • H0YBR7_HUMAN
  • H0YBY1_HUMAN
genes like me logo Genes that share paralogs with TG: view

Variants for TG Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TG Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
908084 Uncertain Significance: Iodotyrosyl coupling defect 132,893,935(+) T/G
NM_003235.5(TG):c.3001+6T>G 		INTRON
908085 Uncertain Significance: Iodotyrosyl coupling defect 132,897,687(+) G/C
NM_003235.5(TG):c.3040G>C (p.Asp1014His) 		MISSENSE
908147 Uncertain Significance: Iodotyrosyl coupling defect 132,908,321(+) G/A
NM_003235.5(TG):c.3983G>A (p.Arg1328His) 		MISSENSE
908148 Uncertain Significance: Iodotyrosyl coupling defect 132,908,334(+) G/T
NM_003235.5(TG):c.3996G>T (p.Gln1332His) 		MISSENSE
908149 Uncertain Significance: Iodotyrosyl coupling defect 132,911,467(+) A/T
NM_003235.5(TG):c.4093A>T (p.Asn1365Tyr) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TG Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for TG Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for TG Gene

MalaCards: The human disease database

(117) MalaCards diseases for TG Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
thyroid dyshormonogenesis 3
  • tdh3
autoimmune thyroid disease 3
  • autoimmune thyroid disease, susceptibility to, 3
congenital hypothyroidism
  • neonatal hypothyroidism
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
goiter
  • goitre
- 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
  • 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, ECO:0000269 PubMed:27305979}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • 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:10199792, ECO:0000269 PubMed:14657345}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Genatlas disease for TG Gene

goiter associated to hypothyroidism and variant type of adenomatous goiter

Additional Disease Information for TG

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

Publications for TG Gene

  1. 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 (Journal of human genetics 2006) 3 4 23 74
  2. 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 (The Journal of clinical endocrinology and metabolism 1999) 3 4 23 74
  3. 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 (The Journal of clinical endocrinology and metabolism 2009) 3 4 23
  4. Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity. (PMID: 17244789) Kanou Y … Murata Y (The Journal of clinical endocrinology and metabolism 2007) 3 4 74
  5. Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. (PMID: 17532758) Caputo M … Targovnik HM (Clinical endocrinology 2007) 3 4 23

ExternalLinks

View latest publications for TG gene in Mastermind

Products for TG Gene

  • Invitrogen Antibodies for TG (AFLGC-TG)

Sources for TG Gene