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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TG Gene

protein-coding GIFtS: 59
GCID: GC08P133879

thyroglobulin

Explore 137 diseases affiliated with
TG via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Thyroglobulin¹
AITD3¹ ² ⁵
TGN¹ ²
Tg³
TDH3⁵

External Ids:	HGNC: 11764¹	Entrez Gene: 7038²	Ensembl: ENSG00000042832⁷	OMIM: 188450⁵	UniProtKB: P01266³

Export aliases for TG gene to outside databases

Previous GC identifers: GC08P132608 GC08P133966 GC08P133550 GC08P133835 GC08P133948 GC08P129197

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TG:

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)

UniProtKB/Swiss-Prot: THYG_HUMAN, P01266

Function: Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3)

Gene Wiki entry for TG (Thyroglobulin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_008046.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TG gene promoter:
COUP-TF1 AP-1 ATF-2 COUP HNF-4alpha2 Nkx2-5 HNF-4alpha1 COUP-TF c-Jun ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TG promoter sequence

Search SABiosciences Chromatin IP Primers for TG

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TG

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24 Ensembl cytogenetic band: 8q24.22 HGNC cytogenetic band: 8q24

TG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TG gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P133879: view genomic region (about GC identifiers)

Start:	133,879,203 bp from pter	End:	134,147,147 bp from pter
Size:	267,945 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: THYG_HUMAN, P01266 (See protein sequence)

Recommended Name: Thyroglobulin precursor

Size: 2768 amino acids; 304790 Da

Subunit: Homodimer

Subcellular location: Secreted

Secondary accessions: O15274 O43899 Q15593 Q15948 Q9NYR1 Q9NYR2 Q9UMZ0 Q9UNY3

Alternative splicing: 2 isoforms: P01266-1 P01266-2

Explore the universe of human proteins at neXtProt for TG: NX_P01266

Post-translational modifications:

Sulfated tyrosines are desulfated during iodination¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P01266

TG Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_003226.4

ENSEMBL proteins:

ENSP00000427871 ENSP00000220616 ENSP00000428628 ENSP00000429605 ENSP00000430523

ENSP00000429164 ENSP00000430430 ENSP00000430087 ENSP00000429761 ENSP00000430161

ENSP00000367100 ENSP00000441693

Human Recombinant Protein Products:

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	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for TG
	GenScript Custom Purified and Recombinant Proteins Services for TG
	Novus Biologicals TG Proteins
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for TG
	Uscn Proteins for TG

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	14718574
GO:0005615	extracellular space	IBA	--
GO:0005783	endoplasmic reticulum	--	--
GO:0005794	Golgi apparatus	--	--
GO:0005887	NOT integral to plasma membrane	IRD	--

TG for ontologies About GeneDecksing

TG Antibody Products:

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	Uscn Antibodies for TG
	ThermoFisher Antibodies for TG

Assay Products for TG:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TG

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TG for domains About GeneDecksing

5 InterPro domains/families:

IPR011641 Tyr-kin_ephrin_A/B_rcpt-like

IPR000716 Thyroglobulin_1

IPR019819 Carboxylesterase_B_CS

IPR002018 CarbesteraseB

IPR016324 Thyroglobulin

Graphical View of Domain Structure for InterPro Entry P01266

ProtoNet protein and cluster: P01266

1 Blocks protein family: IPB000716 Thyroglobulin type-1

UniProtKB/Swiss-Prot: THYG_HUMAN, P01266

Similarity: Belongs to the type-B carboxylesterase/lipase family

Similarity: Contains 11 thyroglobulin type-1 domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: THYG_HUMAN, P01266

Function: Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3)

Genatlas biochemistry entry for TG:

thyroglobulin,precursor of thyroid hormone,involved in storage of iodine and of inactive thyroid hormones

miRNA Products:		OriGene 3'-UTR Clone: TG Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TG
		1 QIAGEN miScript miRNA Assays for microRNA that regulate TG:
		hsa-miR-1303
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TG (see first 1) NM_003235 (human cat#: TG308857) BC111467 (mouse cat#: TG502275) BC111467 (mouse cat#: TF502275) BC111467 (mouse cat#: TR502275) NM_030988 (rat cat#: TG711120) NM_030988 (rat cat#: TR711120) NM_030988 (rat cat#: TF711120) OriGene shRNA RFP: TG OriGene siRNA: TG
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TG

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TG

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TG (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TG OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): TG (NM_001614)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TG
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TG

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TG
		Search LifeMap BioReagents cell lines for TG

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TG

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004091	NOT carboxylesterase activity	IKR	--
GO:0004872	NOT receptor activity	IRD	--
GO:0005179	hormone activity	IEA	--
GO:0005515	protein binding	--	--
GO:0042043	NOT neurexin family protein binding	IRD	--

TG for ontologies About GeneDecksing

Animal Models:
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tg):

endocrine/exocrine gland

growth/size

hematopoietic system

homeostasis/metabolism

nervous system

TG for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Allograft rejection

Autoimmune thyroid disease

0.60

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Kegg Pathway (Kegg details for TG):

Autoimmune thyroid disease

TG for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TG

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/12 Interacting proteins for TG (P01266³ ENSP00000220616⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HSPA5	P11021³, ENSP00000324173⁴	I2D: score=4 STRING: ENSP00000324173
ASGR1	P07306³, ENSP00000269299⁴	I2D: score=1 STRING: ENSP00000269299
CTSD	P07339³, ENSP00000236671⁴	I2D: score=1 STRING: ENSP00000236671
APCS	P02743³, ENSP00000255040⁴	I2D: score=1 STRING: ENSP00000255040
CANX	P27824³, ENSP00000247461⁴	I2D: score=1 STRING: ENSP00000247461

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006590	thyroid hormone generation	IBA	--
GO:0007165	signal transduction	NAS	3016640
GO:0007416	NOT synapse assembly	IRD	--
GO:0009268	response to pH	--	--
GO:0015705	iodide transport	IEA	--

TG for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TG for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TG
10/98 Novoseek chemical compound relationships for TG gene (see all 98) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
iodine	91.3	525	1954313 (7), 9292948 (6), 12713257 (4), 19160311 (4) (see all 99)
thyroxine	90.9	582	1466156 (7), 10229914 (6), 11694378 (4), 8890722 (4) (see all 99)
iodide	83.8	155	10537174 (6), 16648292 (4), 19951699 (3), 20364596 (3) (see all 73)
triiodothyronine	83.3	331	11288978 (4), 11694378 (4), 10822292 (4), 16477365 (3) (see all 99)
sodium iodide	78.5	31	19050049 (2), 10090312 (1), 17199440 (1), 18430446 (1) (see all 21)
diiodotyrosine	77.4	15	8900403 (3), 1954313 (1), 8651700 (1), 9717982 (1) (see all 7)
iodotyrosine	73.2	15	15289438 (2), 1727828 (1), 9737985 (1), 1281126 (1) (see all 9)
methimazole	69.9	8	14657389 (1), 1794603 (1), 1688155 (1), 8075781 (1) (see all 5)
thyronine	66.5	6	9434803 (1), 9717982 (1), 9344702 (1), 9419438 (1)
18f fluorodeoxyglucose	60.9	40	12186505 (4), 19910903 (2), 10452315 (2), 12656659 (2) (see all 19)

Search CenterWatch for drugs/clinical trials and news about TG / THYG

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TG gene:

NM_003235.4

Unigene Cluster for TG:

Thyroglobulin

Hs.654591 [show with all ESTs]

Unigene Representative Sequence: NM_003235

18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):

ENST00000523901 ENST00000220616(uc003ytw.3 uc010mdw.3) ENST00000520769

ENST00000523756(uc011ljb.2) ENST00000518097 ENST00000518505 ENST00000519178

ENST00000518058 ENST00000519543(uc011ljc.2) ENST00000520197 ENST00000520089

ENST00000519294 ENST00000524151 ENST00000522523 ENST00000522797 ENST00000518108

ENST00000522996 ENST00000522809

miRNA Products:		OriGene 3'-UTR Clone: TG Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TG
		1 QIAGEN miScript miRNA Assays for microRNA that regulate TG:
		hsa-miR-1303
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TG (see all 7) OriGene shRNA RFP: TG OriGene siRNA: TG
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TG

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TG (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TG OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): TG (NM_001614)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TG
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TG

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TG Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TG
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TG
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TG

Additional cDNA sequence:

AB209159.1 AK299197.1 AK303666.1 AK303667.1 BC127887.1 BC140933.1 S40807.1 S80793.1

X02154.1 X05615.1

24/80 DOTS entries (see all 80):

DT.95202433 DT.95177266 DT.95219259 DT.91713338 DT.100826698 DT.100826700 DT.452683 DT.92472293

DT.120642240 DT.95333374 DT.120642266 DT.100826697 DT.100826709 DT.100826704 DT.120642467 DT.100826710

DT.120642305 DT.120642340 DT.91698313 DT.95333484 DT.100829949 DT.92472287 DT.95333469 DT.95246308

24/1041 AceView cDNA sequences (see all 1041):

AU141981 AU142145 AU141473 AU141258 AU141684 AU141902 AU141172 AU141680

AU141633 AA385241 AU141387 AU141456 AU141299 BE168388 AU141350 AU141420

AU141754 AU142057 AU142056 BE168391 BE168393 BE168236 AU158954 AU159397

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TG expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

TG expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Anterior foregut progenitor cells (Directed differentia...)

Thyroid Progenitors (Efficient derivation...)

Thyroid

Immature proximal lung cells (Directed differentia...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TG Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TG

SOURCE GeneReport for Unigene cluster: Hs.654591

UniProtKB/Swiss-Prot: THYG_HUMAN, P01266

Tissue specificity: Thyroid gland specific

SABiosciences Expression via Pathway-Focused PCR Array including TG:

Insulin Signaling Pathway in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TG Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TG
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TG
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TG

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TG

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TG gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tg^{1 , 5}	thyroglobulin^{1, 5}	78.6(n)¹ 74.35(a)¹		15 (29.30 cM)⁵ 21819¹ NM_009375.2¹ NP_033401.2¹ 66670753⁵
chicken (Gallus gallus)	Aves	TG¹	thyroglobulin	61.24(n) 55.75(a)		100857838 XM_003640868.1 XP_003640916.1
lizard (Anolis carolinensis)	Reptilia	TG⁶	--	53(a)	1 ↔ 1	4(662513-805425)
zebrafish (Danio rerio)	Actinopterygii	tg¹	thyroglobulin	50.71(n) 42.07(a)		567631 XM_689200.4 XP_694292.4
fruit fly (Drosophila melanogaster)	Insecta	Gli⁶	Gliotactin	10(a)	1 ↔ 1	2L(15756001-15762755)
worm (Caenorhabditis elegans)	Secernentea	glit-1⁶	GLIoTactin (Drosophila neuroligin-like) homolog fa...	15(a)	1 ↔ 1	X(4712250-4715051)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2069566^1,2	C	pathogenic	132230503(+)	`GAGGCG/ACTTCC`	2	/H /R	mis¹ ese³		3		EA NA	20
rs2076739^1,2	C	pathogenic	132276638(+)	`TTGAAT/AGTGAA`	2	/S /C	mis¹		1		EA	220
rs121912646^1,2	C	pathogenic	132324808(+)	`AGTATC/TGAGCC`	2	R *	stg¹		0	--	--	--	--
rs121912648^1,2	C,F	pathogenic	132366921(+)	`GATTCC/TGATGT`	2	R *	stg¹		2		NA EU	5871
rs2229843^1,2	C,F,H,	unknown	132361112(+)	`TGGCAG/TATCTT`	2	Q H	mis¹		11		MN NS EA NA EU	6787
rs2076740^1,2	C,F,H,	other	132276629(+)	`AACGAC/TGGTGC`	2	R W	mis¹		48		EA NA NS WA CSA EU	12239
rs853326^1,2	C,F,O,A,H,	other	132351922(-)	`TGGCAC/TGTAGG`	2	M V	mis¹ ese³		46		EA NS NA WA CSA EU	11734
rs180223^1,2	C,F,O,H,	other	132361522(+)	`TACAGG/TCTGAG`	2	A S	mis¹ ese³		50		EA NA NS WA CSA EU	12555
rs77765418^1,2		--	129195901(+)	`GTTCAC/GGTTGG`	1	--	us2k¹		0	--	--	--	--
rs76880814^1,2	F,	--	129196149(+)	`TAGCTG/TTTATG`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for TG (133879203 - 134129203 bp, first 250kb of TG)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for TG
     4 CNVs: 23862 7669 7668 0123
     5 Indels: 11314 100508 11315 11316 11313
     1 Inversion: 59863
Human Gene Mutation Database (HGMD): TG

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TG

DNA2.0 Custom Variant and Variant Library Synthesis for TG

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TG for disorders           About GeneDecksing

OMIM gene information: 188450
OMIM disorders: 274700  608175
UniProtKB/Swiss-Prot: THYG_HUMAN, P01266

Defects in TG are the cause of 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

Variations in TG are associated with susceptibility to autoimmune thyroid disease type 3 (AITD3) [MIM:608175].

AITDs including Graves disease (GD) and Hashimoto thyroiditis (HT), are among the most common human autoimmune

diseases. They are complex diseases, which are caused by an interaction between susceptibility genes and nongenetic

factors, such as infection

20/137 diseases for TG (see all 137): About MalaCards

goiter thyroiditis congenital hypothyroidism total iodide organification defect

thyroxine-binding globulin deficiency autoimmune thyroiditis hypothyroidism struma ovarii

graves' disease enlarged vestibular aqueduct multinodular goiter malignant struma ovarii

nontoxic goiter adult-onset still's disease endemic goiter toxic diffuse goiter

obsessive-compulsive disorder hypersensitivity reaction type ii disease multiple endocrine neoplasia dna topoisomerase ii

12 diseases from the University of Copenhagen DISEASES database for TG:

Thyroid cancer Autoimmune thyroiditis Goiter Hypothyroidism

Hyperthyroidism Thyrotoxicosis Subacute thyroiditis Carcinoma

Thyroid adenoma Adenoma Teratoma Suppurative thyroiditis

10/95 Novoseek disease relationships for TG gene (see all 95) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
thyroid carcinoma	95.4	414	17892441 (5), 18630997 (4), 19160311 (4), 11325833 (3) (see all 99)
thyroid cancer	95	436	17302864 (4), 14588101 (3), 16479246 (3), 18613899 (3) (see all 99)
autoimmune thyroid disease	92.8	143	10570317 (3), 15096179 (3), 2256432 (2), 14973426 (2) (see all 78)
hashimotos thyroiditis	90.5	101	2242608 (3), 2226281 (2), 10670755 (2), 7962336 (2) (see all 69)
graves disease	89.4	145	16646680 (3), 1724781 (2), 10984889 (2), 11092696 (2) (see all 85)
thyroid diseases	89.1	126	18243140 (4), 10984889 (3), 11228272 (3), 12022704 (3) (see all 72)
goiter	88.5	123	2129364 (4), 1851064 (4), 7549998 (3), 9588493 (2) (see all 79)
goiter congenital	88.5	55	10199792 (3), 14764776 (2), 8325944 (2), 15769978 (2) (see all 33)
hypothyroidism	88.4	117	9790265 (3), 15014299 (2), 8966023 (2), 17978827 (2) (see all 84)
thyroid papillary carcinoma	87.6	64	15579752 (2), 1305063 (2), 16033735 (2), 16201895 (2) (see all 37)

Genatlas disease: TG

goiter associated to hypothyroidism and variant type of adenomatous goiter

Genetic Association Database (GAD): TG
Human Genome Epidemiology (HuGE) Navigator: TG (885 documents)

Export disorders for TG gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TG gene, integrated from 9 sources (see all 1756):
(articles sorted by number of sources associating them with TG)

Utopia: connect your pdf to the dynamic
world of online information

The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation. (PubMed id 19509106)^{1, 2, 9} Pardo V.... Medeiros-Neto G. (2009)
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. (PubMed id 10199792)^{1, 2, 9} Hishinuma A.... Ieiri T. (1999)
Preferential sites of proteolytic cleavage of bovine, human and rat thyroglobulin. The use of limited proteolysis to detect solvent- exposed regions of the primary structure. (PubMed id 8269951)^{1, 2, 9} Gentile F. and Salvatore G. (1993)
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. (PubMed id 16477365)^{1, 2, 9} Kitanaka S....Igarashi T. (2006)
Characterization of the type-1 repeat from thyroglobulin, a cysteine- rich module found in proteins from different families. (PubMed id 8797845)^{1, 2, 9} Molina F.... Granier C. (1996)
Characterization of hormonogenic sites in an N-terminal, cyanogen bromide fragment of human thyroglobulin. (PubMed id 7793989)^{1, 2, 9} Xiao S.... Rawitch A.B. (1995)
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. (PubMed id 17532758)^{1, 2, 9} Caputo M.... Targovnik H.M. (2007)
Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin gene. (PubMed id 14633662)^{1, 4, 9} Matakidou A....Foulkes W.D. (2004)
Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom. (PubMed id 15579800)^{1, 4, 9} Collins J.E....Gough S.C. (2004)
Genomic organization of the 3' region of the human thyroglobulin gene. (PubMed id 10524569)^{1, 2, 9} Mendive F.M.... Targovnik H.M. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7038	HGNC: 11764	AceView: TG	Ensembl:ENSG00000042832	euGenes: HUgn7038
ECgene: TG	Kegg: 7038	H-InvDB: TG

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TG	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Thyroglobulin

Intellectual Property for TG gene
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Patent Information for TG gene:
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thyroglobulin

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recurrent cancer
stable disease
Pregnancy loss
Toxic diffuse goiter
Genetic Susceptibility
Acquired hypothyroidism
THYROID CARCINOMA ANAPLASTIC
PAPILLARY THYROID MICROCARCINOMA
Residual Cancer
Urticaria chronic
THYROID FOLLICULAR CARCINOMA
Thyroid Nodule
lung metastases
THYROID HORMONE RESISTANCE
Carcinoma Papillary Follicular
Turners Syndrome
Thyroid-Associated Ophthalmopathy
THYROID ECTOPIC
Hyperthyroidism
HYPOTHYROIDISM PRIMARY
primary tumor
GOITER CONGENITAL
THYROID CARCINOMA MEDULLARY
Cancer
Diabetes Mellitus Insulin-Dependent
multinodular goiter
GOITER COLLOID
THYROGLOBULIN SYNTHESIS DEFECT
Anemia Pernicious
follicular thyroid cancer
toxic adenoma
Congenital hypothyroidism
recurrent thyroid cancer
Thyroid Neoplasms
Nontoxic multinodular goiter
cancer recurrence
Iodine deficiency
THYROID CARCINOMA, HURTHLE CELL
Tumors
THYROID CYST
Metastasis
Autoimmunity
Celiac Disease
Thyroid dysfunction postpartum
TBG, SERUM
Thyroiditis
Ovarian Neoplasms
Endemic goiter
Autoimmune Diseases
Thyroid Storm
Adenoma Follicular
THYROTOXICOSIS FACTITIA
Goiter Nodular
Multiple Endocrine Neoplasia
Carcinoma Mucoepidermoid
GOITER TOXIC NODULAR
Carcinoma
Hypothyroidism
Addisons Disease
Thyroid Cancer
METASTATIC CARCINOMA
metastatic cancer
Carcinoma Papillary
Carcinoid
Carcinoma Anaplastic
THYROID PAPILLARY CARCINOMA
Goiter
Paraganglioma
Nontoxic goiter
Thyroiditis Subacute
THYROID ADENOMA
Adenoma Trabecular
Carcinoma Undifferentiated
GOITER ADENOMATOUS
diffuse goiter
Adenoma
Carcinoma Medullary
Thyroid Diseases
autoimmune thyroid disease
Struma Ovarii
Histopathology
papillary thyroid cancer
GOITER EUTHYROID
TSH DEFICIENCY
Autoimmune Response
Graves Disease
DYSFUNCTION THYROID
PENDRED SYNDROME
residual disease
Thyroiditis Chronic
Hashimotos Thyroiditis
THYROID CARCINOMA
Myxedema
bone metastases
CERVICAL CYST

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TG Gene

thyroglobulin

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