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TSHR Gene

protein-coding GIFtS: 60

GC14P080491

thyroid stimulating hormone receptor
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
CHNG1 ^², ⁵
LGR3 ^¹, ², ³
MGC75129 ^²
TSH-R ^³
hTSHR-I ^²

Descriptions
Thyroid-stimulating hormone receptor ^³
seven transmembrane helix receptor ^²
thyroid stimulating hormone receptor ^²
thyroid stimulating hormone receptor, isoform 2 ^²
thyrotropin receptor ^²
thyrotropin receptor-I, hTSHR-I ^²

External Ids
HGNC: 12373¹
Entrez Gene: 7253²
UniProtKB: P16473³
Ensembl: ENSG00000165409⁷

Search outside databases for aliases for TSHR gene

Previous GC identifers: GC14P078927 GC14P075238 GC14P079411

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

EntrezGene summary for TSHR:

The protein encoded by this gene is a membrane protein and a major controller of thyroid cell

metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity

is mediated by adenylate cyclase. Defects in this gene are a cause of several types of

hyperthyroidism. Three transcript variants encoding different isoforms have been found for this

gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: TSHR_HUMAN, P16473

Function: Receptor for thyrothropin. Plays a central role in controlling thyroid cell metabolism.

The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Also

acts as a receptor for thyrostimulin (GPA2+GPB5)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the TSHR gene

Entrez Gene cytogenetic band: 14q31 Ensembl cytogenetic band: 14q31.1 HGNC cytogenetic band: 14q24-q31

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

GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P080491: (about GC identifiers)

Start:	80,491,528 bp from pter
End:	80,682,399 bp from pter
Size:	190,872 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000014.7 NT_026437.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: TSHR_HUMAN, P16473 (See protein sequence)

Recommended Name: Thyrotropin receptor precursor

Size: 764 amino acids; 86830 Da

Subcellular location: Cell membrane; Multi-pass membrane protein

Sequence caution: Sequence=AAA70232.1; Type=Frameshift; Positions=130, 135, 612;

PDB structures from and Proteopedia :

1XUM (3D)

Secondary accessions: Q9P1V4 Q9ULA3 Q9UPH3

Alternative splicing: 2 isoforms: P16473-1 P16473-2 (Additional isoforms seem to exist)

REFSEQ proteins (3 alternative transcripts):

NP_000360.2 NP_001018046.1 NP_001136098.1

ENSEMBL proteins:

ENSP00000340113 ENSP00000298171

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (TSH Receptor)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--
GO:0005887	integral to plasma membrane	TAS	8552586

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Antibodies for TSHR:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for TSHR
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (TSH Receptor), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for TSHR

Assays for TSHR:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P16473

ProtoNet protein and cluster: P16473

3 Blocks protein families:

IPB001611 Leucine-rich repeat signature

IPB002131 Glycoprotein hormone receptor signature

IPB002274 Thyrotropin receptor precursor signature

UniProtKB/Swiss-Prot: TSHR_HUMAN, P16473

Similarity: Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily

Similarity: Contains 6 LRR (leucine-rich) repeats

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TSHR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TSHR)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001018036

Applied Biosystems Silencer® siRNAs for TSHR

Sigma-Aldrich siRNA and siRNA Panels for TSHR

Sigma-Aldrich shRNA Panels and shRNA for TSHR

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000369
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000369
untagged cDNA clones in CMV expression vector (see all 3): NM_000369

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000369

UniProtKB/Swiss-Prot: TSHR_HUMAN, P16473

Function: Receptor for thyrothropin. Plays a central role in controlling thyroid cell metabolism.

The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Also

acts as a receptor for thyrostimulin (GPA2+GPB5)

Genatlas biochemistry entry for TSHR:

thyroid stimulating hormone,receptor,G protein coupled receptor superfamily,thyroid hormone

synthesis and metabolism pathway

10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Tshr):

behavior/neurological	endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	immune system	lethality-postnatal	nervous system	reproductive system

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	IEA	--
GO:0004996	thyroid-stimulating hormone receptor activity	TAS	8552586

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for TSHR (Your Favorite Gene powered by Ingenuity)

Autoimmune Thyroid Disease Signaling

GeneDecks TSHR for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for TSHR

5/38 Interacting proteins for TSHR (ENSP00000298171³) via UniProtKB, MINT, and/or STRING (see all 38 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TSHB	ENSP00000256592³	STRING (score=.998)
CGA	ENSP00000358595³	STRING (score=.997)
NKX2-1	ENSP00000353918³	STRING (score=.991)
TG	ENSP00000220616³	STRING (score=.968)
SLC5A5	ENSP00000222248³	STRING (score=.967)

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5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	IEA	--
GO:0007187	G-protein signaling, coupled to cyclic nucleotide second messenger	TAS	8552586
GO:0007189	activation of adenylate cyclase activity by G-protein signaling pathway	IEA	--
GO:0007267	cell-cell signaling	TAS	7920658
GO:0008284	positive regulation of cell proliferation	TAS	7920658

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for TSHR:

Ligand

Browse Tocris compounds for TSHR
10/46 Novoseek chemical compound relationships for TSHR gene (see all 46 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
mc 1-2	75.14	10	10411114 (2), 10487700 (2), 9528975 (2), 10958310 (1) (see all 5)
sodium iodide	69.55	16	10090312 (1), 12966202 (1), 17199440 (1), 12485453 (1) (see all 13)
iodine	68.37	26	16990652 (6), 15911145 (2), 11041453 (1), 18236738 (1) (see all 16)
iodide	65.98	29	8981006 (2), 15691889 (2), 9398703 (1), 9413803 (1) (see all 18)
triiodothyronine	58.35	8	17287406 (1), 10840997 (1), 12790806 (1), 12899792 (1) (see all 8)
cyclic amp	44.24	29	7744056 (4), 18631002 (3), 11432444 (1), 12867115 (1) (see all 15)
ribonucleic acid	42.00	17	8045952 (2), 11095478 (2), 8729520 (1), 10946896 (1) (see all 10)
125i	39.15	8	9924193 (2), 9584838 (1), 9459624 (1), 9920067 (1)
amino acid	38.37	9	8136456 (1), 9525885 (1), 1764054 (1), 1663578 (1)
isoleucine	33.98	8	16187920 (1), 18558604 (1), 16339276 (1), 16756473 (1) (see all 5)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TSHR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TSHR)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001018036

Sigma-Aldrich siRNA and siRNA Panels for TSHR

Sigma-Aldrich shRNA Panels and shRNA for TSHR

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000369 NM_001018036 NM_001142626

REFSEQ mRNAs for TSHR gene (3 alternative transcripts):

NM_000369.2 NM_001018036.1 NM_001142626.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000369 NM_001018036 NM_001142626

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000369
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000369
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000369

Additional cDNA sequence:

AB209207.1 AF035261.1 AK095769.1 AK303378.1 AY429111.1 BC009237.2 BC024205.2 BC063613.1

BC108653.1 BC120972.2 BC120973.2 BC127628.1 BC127629.1 BC141970.1 M31774.1 M32215.1

M73747.1 S45272.1 S49816.1 S82807.1

9 DOTS entries:

DT.453667 DT.87046423 DT.99936172 DT.91762220 DT.95161141 DT.120771538 DT.75184241 DT.95368852

DT.99995997

24/46 AceView cDNA sequences (see all 46 ):

BC024205 AI870633 AY429111 BE045816 BC063613 BF036966 AI142049 M32215

S49816 AA384557 BF034165 T29862 S82807 BF034029 BX484832 NM_000369

BE272336 AK095769 BF510960 BG207816 BE740743 BE207611 M31774 AF035261

highest scoring ESTs for TSHR:

S82807 M31774 AA384557 AF035261 AI142049 AW951540 BE045816 BE172809 BE179105 BF034029

Unigene Cluster for TSHR:

Thyroid stimulating hormone receptor

Hs.160411 [show with all ESTs]

Unigene Representative Sequence: NM_000369

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000342443 ENST00000298171

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

TSHR expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for TSHR

¹ / ² / ³

11 probe-sets matching TSHR gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
47686_at²^{, 3}	U95-B	1	1.00	1.00	0.90	1.44	R51015	0.80	1.00	0.91	1
32471_at²^{, 3}	U95-A	1	1.00	1.00	0.96	1.03	S82807	1.00	1.00	1.00	1
34515_g_at²^{, 3}	U95-A	1	1.00	1.00	0.96	0.88	S49816	0.80	0.80	0.80	1
34513_at²^{, 3}	U95-A	1	1.00	1.00	0.61	0.75	M31774	1.00	0.90	0.95	1
34514_at²^{, 3}	U95-A	1	1.00	1.00	0.98	1.11	S49816	0.80	0.80	0.80	1
215443_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BE740743	0.60	1.00	0.82	1
215442_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BE740743	0.60	1.00	0.82	1
210055_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BE045816	0.80	1.00	0.91	1
215443_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
215442_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210055_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks TSHR for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.160411
Expression variation in blood from EXPOLDB for TSHR

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for TSHR gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	TSHR¹	--	thyroid stimulating hormone receptor	89.88(n) 89.66(a)	403968 NM_001003285.1 NP_001003285.1
chimpanzee (Pan troglodytes)	TSHR¹	--	thyroid stimulating hormone receptor	99.39(n) 98.95(a)	453077 XM_001166958.1 XP_001166958.1
cow (Bos taurus)	TSHR¹	--	thyroid stimulating hormone receptor	87.99(n) 87.29(a)	281553 NM_174206.2 NP_776631.1
rat (Rattus norvegicus)	Tshr¹	--	thyroid stimulating hormone receptor	84.55(n) 85.86(a)	25360 NM_012888.1 NP_037020.1
mouse (Mus musculus)	Tshr^{1, 5}	12 (37.00 cM)⁵	thyroid stimulating hormone receptor^{1, 5}	86.17(n)¹ 86.78(a)¹	22095¹ NM_011648.4¹ NP_035778.3¹ AI481368⁵ AI551862⁵ (see all 16)

About this table Species with no ortholog for TSHR

ENSEMBL Gene Tree for TSHR

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for TSHR gene

LHCGR² FSHR²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: TSHR_HUMAN, P16473

Polymorphism: The Asp727Glu polymorphism is associated with Graves disease in a Russian population.

The Glu727 allele and the heterozygous Asp727Glu genotype are related to higher risk of the

disease. The Asp727Glu polymorphism significantly ameliorates G(s)alpha protein activation in the

presence of the gain-of-function mutation Ala593Asn although it is functionally inert in the

context of the wild-type TSHR

10/1158 NCBI SNPs in TSHR are shown (see all 1158 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 382)

AB	SNP ID	Valid	Chr 14 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2080305^1,2	A,C,F,H,O	80645172(+)	`CTCAGT/CTTAGA`	2	--	int¹ ng3¹		12	EU EA WA NA	1056
	rs2371462^1,2	A,C,F,H	80490527(+)	`gcttcC/Tgtaaa`	2	--	ng5¹		4	EU EA WA	418
	rs1991517^1,2	C,F,H,O	80680336(+)	`CACGAC/GATGAG`	1	E/D	mis¹ ese³		13	MN EU EA WA NA	1230
	rs7144481^1,2	A,C,F,H	80680695(+)	`ATCTAT/CACTAT`	1	--	ut3¹ ese³		8	EU EA WA	816
	rs2268477^1,2	A,C,F,H	80680622(+)	`ATTAAC/ACTAAT`	1	--	ut3¹		9	EA EU WA	2132
	rs8022931^1,2	A,C,F,H	80682891(+)	`TGTTTC/GTCAAA`	1	--	ng3¹		7	NA EU EA WA	562
	rs3783941^1,2	A,C,F,H	80644758(-)	`GGAGCG/TTGGGG`	3	R/S	mis¹ int¹ ese³		12	EA EU WA NA	2444
	rs7154269^1,2	A,C,F,H	80490060(+)	`ATGGTA/GATTTT`	2	--	ng5¹ tfbs³		4	EU EA WA	410
	rs8022139^1,2	A,C,F,H	80491098(+)	`TCAACC/TACCGG`	2	--	ng5¹		11	EU EA WA NA	982
--	rs8022600^1,2	A,C,F,H	80491176(+)	`CGCGGG/TCTAGC`	2	--	ng5¹ tfbs³		8	EU EA WA	830

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HapMap Linkage Disequilibrium images for TSHR (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 603372

UniProtKB/Swiss-Prot: TSHR_HUMAN, P16473

Defects in TSHR are the cause of congenital hypothyroidism non-goitrous type 1 (CHNG1)

[MIM:275200]; also known as congenital hypothyroidism due to TSH resistance. CHNG1 is a

non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading

to increased levels of plasma TSH and low levels of thyroid hormone. CHNG1 presents variable

severity depending on the completeness of the defect. Most patients are euthyroid and

asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism

and present a hypoplastic thyroid gland

Defects in TSHR are a cause of hyperthyroidism [MIM:603372]. Various types are known:

autosomal dominant non-autoimmune hyperthyroidism (ADNH); sporadic congenital hyperthyroidism

(SCH); hyperthyroidism associated with autonomously functioning thyroid nodules (AFTN), toxic

multinodular goiter (TMNG) and hyperfunctioning thyroid adenomas (HTA). TMNG encompasses a

spectrum of different clinical entities, ranging from a single hyperfunctioning nodule within an

enlarged thyroid, to multiple hyperfunctioning areas scattered throughout the gland. HTA are

discrete encapsulated neoplasms characterized by TSH-independent autonomous growth, hypersecretion

of thyroid hormones, and TSH suppression

Hyperthyroidism in iodine deficient areas is predominately caused by toxic thyroid nodules

(TTNs). Somatic, constitutively activating mutations of the thyroid-stimulating hormone receptor

(TSHR) and/or constitutively activating G(s)alpha mutations have been identified in TTNs. These

mutations lead to TSH independent activation of the cAMP cascade resulting in thyroid growth and

hormone production

Defects in TSHR are the cause of familial gestational hyperthyroidism (FGH) [MIM:603373]

Defects in TSHR are a cause of thyroid neoplasms (papillary and follicular cancers)

Autoantibodies directed against the TSH receptor are directly responsible for the

pathogenesis and hyperthyroidism of Graves disease (GRD) [MIM:275000]. Antibody interaction with

the TSH receptor results in an uncontrolled receptor stimulation

Defects in TSHR are the cause of non-autoimmune hyperthyroidism [MIM:609152]. In a subset

of patients with 'congenital Graves disease' the hyperthyroidism is not caused by antithyroid

antibodies, but rather by mutations in TSHR. The thyroid gland is enlarged in most patients with

non-autoimmune hyperthyroidism, but features of Graves disease, such as thyroid-associated

ophthalmopathy, pretibial myxedema, lymphocytic infiltration of the thyroid, and thyroid

antibodies, are absent. Hyperthyroidism occurred at any time from the neonatal period to adulthood

10/91 Novoseek disease relationships for TSHR gene (see all 91 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
graves disease	96.33	459	10365678 (6), 16235153 (4), 8636291 (4), 9920067 (4) (see all 99)
hyperthyroidism	91.37	204	15284197 (4), 12240901 (4), 17129985 (3), 9589634 (3) (see all 99)
autoimmune thyroid disease	89.88	57	10659563 (2), 9546816 (2), 7921224 (2), 19328414 (2) (see all 43)
toxic adenoma	89.62	33	8626855 (4), 9525885 (1), 8549796 (1), 14514342 (1) (see all 24)
myxedema	86.26	23	1981364 (1), 9398703 (1), 10852437 (1), 12242030 (1) (see all 17)
thyroid-associated ophthalmopathy	84.88	20	14724083 (2), 16643732 (2), 9001189 (1), 12568121 (1) (see all 13)
hashimotos thyroiditis	83.76	19	18942492 (2), 9183516 (2), 2226281 (1), 10524562 (1) (see all 15)
thyroid diseases	82.20	53	12457447 (2), 18777457 (2), 10584424 (1), 16042141 (1) (see all 42)
goiter	81.29	26	10355051 (2), 8855311 (2), 12966202 (1), 16235153 (1) (see all 18)
thyroid adenoma	80.75	31	10566665 (3), 9710366 (2), 17381350 (2), 8196191 (1) (see all 22)

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Genatlas disease: TSHR

hypothyroidism,congenital,with high TSH,TSH unresponsiveness (TSHR defect in few cases),including

thyroid hypoplasia

Human Gene Mutation Database: TSHR
Genetic Association Database: TSHR
Human Genome Epidemiology Navigator: TSHR (34 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/832 PubMed articles for TSHR gene (see all 832 ):

Association of Graves' disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi- ethnic origins. (PubMed id 12930595)^{1, 3, 4, 6} Ho S.-C.... Khoo D.H. (2003)
Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects. (PubMed id 12788902)^{3, 4, 6} Peeters R.P.... Visser T.J. (2003)
A germline single nucleotide polymorphism at the intracellular domain of the human thyrotropin receptor does not have a major effect on the development of Graves' disease. (PubMed id 12593721)^{3, 4, 6} Ban Y.... Tomer Y. (2002)
Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: evidence for binding of autoantibodies. (PubMed id 2610690)^{2, 3, 4} Libert F....Vassart G. (1989)
Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor. (PubMed id 2558651)^{2, 3, 4} Nagayama Y.... Rapoport B. (1989)
A novel activating mutation in the thyrotropin receptor gene in an autonomously functioning thyroid nodule developed by a Japanese patient. (PubMed id 11022192)^{1, 3, 4} Kosugi S.... Mori T. (2000)
The polymorphisms of codon 727 and 52 of thyroid-stimulating hormone receptor gene are not associated with mitral valve prolapse syndrome in Taiwan Chinese. (PubMed id 12558129)^{1, 3, 6} Chou H.T....Tsai F.J. (2002)
Functional significance of the thyrotropin receptor germline polymorphism D727E. (PubMed id 12589819)^{1, 3, 4} Sykiotis G.P.... Papavassiliou A.G. (2003)
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. (PubMed id 9329388)^{1, 3, 4} Biebermann H....Grueters A. (1997)
Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation. (PubMed id 15163335)^{1, 3, 4} Vaidya B....Ellard S. (2004)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7253	HGNC: 12373	AceView: TSHR	Ensembl:ENSG00000165409	euGenes: HUgn7253
ECgene: TSHR	H-InvDB: TSHR

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for TSHR	Genetics and Cytogenetics in Oncology and Haematology
TSH receptor database	http://innere.uniklinikum-leipzig.de/tsh/
GRIS	http://gris.ulb.ac.be/
GeneReviews	http://www.genetests.org/query?gene=TSHR
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=TSHR
Wikipedia	http://en.wikipedia.org/wiki/TSH_receptor

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TSHR Gene

protein-coding GIFtS: 60

Aliases &
Descriptions
for TSHR

Summaries
for TSHR

Genomic Location
for TSHR

Proteins
for TSHR

Protein Domains/
Families
for TSHR

Gene Function
for TSHR

Pathways & Interactions
for TSHR

Drugs & Compounds
for TSHR

Transcripts
for TSHR

Expression
for TSHR

Orthologs
for TSHR

Paralogs
for TSHR

SNPs/Variants
for TSHR

Disorders & Mutations
for TSHR

Medical News
for TSHR

Publications
for TSHR

Search for TSHR

Genome Databases showing TSHR

Other Databases showing TSHR

Specialized Databases showing TSHR

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Services
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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TSHR Gene

protein-coding GIFtS: 60

Aliases & Descriptionsfor TSHR

Summariesfor TSHR

Genomic Locationfor TSHR

Proteinsfor TSHR

Protein Domains/Familiesfor TSHR

Gene Functionfor TSHR

Pathways & Interactionsfor TSHR

Drugs & Compoundsfor TSHR

Transcriptsfor TSHR

Expression for TSHR

Orthologsfor TSHR

Paralogsfor TSHR

SNPs/Variantsfor TSHR

Disorders & Mutationsfor TSHR

Medical Newsfor TSHR

Publicationsfor TSHR

Search for TSHR

Genome Databases showing TSHR

Other Databases showing TSHR

Specialized Databases showing TSHR

Licensable Technologiesfor TSHR

Servicesfor TSHR

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for TSHR

Summaries
for TSHR

Genomic Location
for TSHR

Proteins
for TSHR

Protein Domains/
Families
for TSHR

Gene Function
for TSHR

Pathways & Interactions
for TSHR

Drugs & Compounds
for TSHR

Transcripts
for TSHR

Expression
for TSHR

Orthologs
for TSHR

Paralogs
for TSHR

SNPs/Variants
for TSHR

Disorders & Mutations
for TSHR

Medical News
for TSHR

Publications
for TSHR

Licensable Technologies
for TSHR

Services
for TSHR