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Aliases for TSHR Gene

Aliases for TSHR Gene

  • Thyroid Stimulating Hormone Receptor 2 3 5
  • LGR3 3 4
  • Thyroid-Stimulating Hormone Receptor 4
  • Seven Transmembrane Helix Receptor 3
  • Thyrotropin Receptor-I, HTSHR-I 3
  • Thyrotropin Receptor 3
  • TSH Receptor 3
  • HTSHR-I 3
  • CHNG1 3
  • TSH-R 4

External Ids for TSHR Gene

Previous GeneCards Identifiers for TSHR Gene

  • GC14P078927
  • GC14P075238
  • GC14P079411
  • GC14P080491
  • GC14P081421
  • GC14P061589

Summaries for TSHR Gene

Entrez Gene Summary for TSHR Gene

  • 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, Dec 2008]

GeneCards Summary for TSHR Gene

TSHR (Thyroid Stimulating Hormone Receptor) is a Protein Coding gene. Diseases associated with TSHR include Hypothyroidism, Congenital, Nongoitrous, 1 and Hyperthyroidism, Familial Gestational. Among its related pathways are Peptide ligand-binding receptors and cAMP signaling pathway. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and thyroid-stimulating hormone receptor activity. An important paralog of this gene is LHCGR.

UniProtKB/Swiss-Prot for TSHR Gene

  • Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin (PubMed:11847099, PubMed:12045258). Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin (PubMed:12045258). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099). Plays a central role in controlling thyroid cell metabolism (By similarity).

Gene Wiki entry for TSHR Gene

Additional gene information for TSHR Gene

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

Genomics for TSHR Gene

GeneHancer (GH) Regulatory Elements for TSHR Gene

Promoters and enhancers for TSHR Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I080954 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 556.9 +0.2 229 1.7 CTCF MXI1 CLOCK SAP130 RB1 ARID4B MAX MZF1 SIN3A ZNF2 TSHR CEP128 NMNAT1P1
GH14I080972 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 18.4 +20.8 20778 6.3 CTCF ZBTB21 ZNF449 FEZF1 ZNF335 GATA3 PRDM10 MAFK HLF DPF2 TSHR CEP128 NMNAT1P1 BHLHB9P1
GH14I080992 Enhancer 0.6 FANTOM5 19 +37.5 37546 0.3 JUND ATF3 RXRA HNF4G ZBTB33 HNF4A RAD21 GABPA TSHR CEP128 SNORA79 GTF2A1 RPL17P3 GC14P080982
GH14I081018 Enhancer 0.7 FANTOM5 Ensembl 12.9 +63.6 63558 1.1 ATF4 IRF2 MAFG TSHR CEP128 NMNAT1P1 LOC105370596 ENSG00000271656
GH14I080958 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.9 +4.5 4532 2.2 PKNOX1 BMI1 BATF KLF5 IRF4 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 CEP128 TSHR BHLHB9P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TSHR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TSHR gene promoter:

Genomic Locations for TSHR Gene

Genomic Locations for TSHR Gene
191,314 bases
Plus strand

Genomic View for TSHR Gene

Genes around TSHR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TSHR Gene

Proteins for TSHR Gene

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

    Protein Symbol:
    Recommended name:
    Thyrotropin receptor
    Protein Accession:
    Secondary Accessions:
    • A0PJU7
    • F5GYU5
    • G3V2A9
    • Q16503
    • Q8TB90
    • Q96GT6
    • Q9P1V4
    • Q9ULA3
    • Q9UPH3

    Protein attributes for TSHR Gene

    764 amino acids
    Molecular mass:
    86830 Da
    Quaternary structure:
    • Interacts with heterodimer GPHA2:GPHB5; this interaction stimulates cAMP production (PubMed:12045258). Interacts (via the PDZ-binding motif) with SCRIB; regulates TSHR trafficking and function (PubMed:15775968).
    • Sequence=AAA70232.1; Type=Frameshift; Positions=130, 135, 612; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TSHR Gene

    Alternative splice isoforms for TSHR Gene


neXtProt entry for TSHR Gene

Post-translational modifications for TSHR Gene

  • Glycosylated.
  • Sulfated. Sulfation on Tyr-385 plays a role in thyrotropin receptor binding and activation.
  • Glycosylation at isoforms=3, 277, posLast=9999, isoforms=3, 2113, posLast=177177, isoforms=3, 2198, and isoforms=302

No data available for DME Specific Peptides for TSHR Gene

Domains & Families for TSHR Gene

Gene Families for TSHR Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
  • Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
genes like me logo Genes that share domains with TSHR: view

Function for TSHR Gene

Molecular function for TSHR Gene

GENATLAS Biochemistry:
thyroid stimulating hormone,receptor,G protein coupled receptor superfamily,thyroid hormone synthesis and metabolism pathway
UniProtKB/Swiss-Prot Function:
Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin (PubMed:11847099, PubMed:12045258). Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin (PubMed:12045258). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099). Plays a central role in controlling thyroid cell metabolism (By similarity).

Phenotypes From GWAS Catalog for TSHR Gene

Gene Ontology (GO) - Molecular Function for TSHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IMP 12045258
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004996 thyroid-stimulating hormone receptor activity IEA,IMP 11847099
GO:0005515 protein binding IPI 15775968
GO:0008528 G-protein coupled peptide receptor activity IBA --
genes like me logo Genes that share ontologies with TSHR: view
genes like me logo Genes that share phenotypes with TSHR: view

Human Phenotype Ontology for TSHR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TSHR Gene

MGI Knock Outs for TSHR:

Animal Model Products

miRNA for TSHR Gene

miRTarBase miRNAs that target TSHR

Clone Products

  • Addgene plasmids for TSHR

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

Localization for TSHR Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSHR Gene

Cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein.

Subcellular locations from

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 TSHR gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TSHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS,IEA --
GO:0005887 integral component of plasma membrane TAS 8552586
GO:0009986 cell surface ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TSHR: view

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

Pathways & Interactions for TSHR Gene

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

SIGNOR curated interactions for TSHR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TSHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway IMP 12045258
GO:0007186 G-protein coupled receptor signaling pathway IEA,TAS --
GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS 8552586
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway IBA --
genes like me logo Genes that share ontologies with TSHR: view

Drugs & Compounds for TSHR Gene

(49) Drugs for TSHR Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thyrotropin Alfa Approved, Vet_approved Pharma Target, agonist, binder 0
cyclic amp Experimental Pharma 0
TSH Pharma Full agonist, Agonist 0
ML224 Pharma 0
[<SUP>125</SUP>I]TSH (HUMAN) Pharma 0

(30) Additional Compounds for TSHR Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Full agonist, Agonist

(1) ApexBio Compounds for TSHR Gene

Compound Action Cas Number
ML224 1338824-21-7
genes like me logo Genes that share compounds with TSHR: view

Drug Products

Transcripts for TSHR Gene

Unigene Clusters for TSHR Gene

Thyroid stimulating hormone receptor:
Representative Sequences:

Clone Products

  • Addgene plasmids for TSHR

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

No ASD Table

Relevant External Links for TSHR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TSHR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Thyroid (x49.2).

Protein differential expression in normal tissues from HIPED for TSHR Gene

This gene is overexpressed in Plasma (34.9) and Thyroid (30.4).

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

Protein tissue co-expression partners for TSHR Gene

NURSA nuclear receptor signaling pathways regulating expression of TSHR Gene:


SOURCE GeneReport for Unigene cluster for TSHR Gene:


mRNA Expression by UniProt/SwissProt for TSHR Gene:

Tissue specificity: Expressed in thyroide cells (at protein level) (PubMed:11847099). Expressed in the thyroid (PubMed:2610690).

Evidence on tissue expression from TISSUES for TSHR Gene

  • Thyroid gland(4.9)
  • Kidney(2.2)
  • Blood(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • vocal cord
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
  • pelvis
  • rectum
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TSHR: view

Orthologs for TSHR Gene

This gene was present in the common ancestor of animals.

Orthologs for TSHR Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TSHR 33 34
  • 99.39 (n)
(Canis familiaris)
Mammalia TSHR 33 34
  • 90.02 (n)
(Bos Taurus)
Mammalia TSHR 33 34
  • 87.99 (n)
(Mus musculus)
Mammalia Tshr 33 16 34
  • 86.17 (n)
(Rattus norvegicus)
Mammalia Tshr 33
  • 84.55 (n)
(Monodelphis domestica)
Mammalia TSHR 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia TSHR 34
  • 74 (a)
(Gallus gallus)
Aves TSHR 33 34
  • 71.63 (n)
(Anolis carolinensis)
Reptilia TSHR 34
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tshr 33
  • 67.61 (n)
(Danio rerio)
Actinopterygii tshr 33 34
  • 63.86 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12132 33
fruit fly
(Drosophila melanogaster)
Insecta Fsh 35
  • 37 (a)
rk 35
  • 34 (a)
Lgr1 34
  • 32 (a)
(Caenorhabditis elegans)
Secernentea C50H2.1 35
  • 30 (a)
fshr-1 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
Species where no ortholog for TSHR 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)
  • 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 TSHR Gene

Gene Tree for TSHR (if available)
Gene Tree for TSHR (if available)

Paralogs for TSHR Gene

Paralogs for TSHR Gene

(2) SIMAP similar genes for TSHR Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TSHR: view

Variants for TSHR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TSHR Gene

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.

Sequence variations from dbSNP and Humsavar for TSHR Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1027055216 uncertain-significance, Congenital hypothyroidism, Hyperthyroidism, nonautoimmune 81,144,672(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1041770299 uncertain-significance, Congenital hypothyroidism, Hyperthyroidism, nonautoimmune 81,146,095(+) G/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs112187344 uncertain-significance, Congenital hypothyroidism, Hyperthyroidism, nonautoimmune 81,146,048(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs113951800 benign, likely-benign, not specified, Hyperthyroidism, nonautoimmune, Congenital hypothyroidism 81,143,435(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs121908859 pathogenic, Thyroid adenoma, hyperfunctioning 81,143,914(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv1109n106 CNV deletion 24896259
dgv668e212 CNV loss 25503493
esv2036394 CNV deletion 18987734
esv2265006 CNV deletion 18987734
esv2495579 CNV deletion 19546169
esv2585992 CNV deletion 19546169
esv2661838 CNV deletion 23128226
esv2748926 CNV deletion 23290073
esv2748927 CNV deletion 23290073
esv2748928 CNV deletion 23290073
esv2761847 CNV loss 21179565
esv3426031 CNV insertion 20981092
esv3551843 CNV deletion 23714750
esv3551846 CNV deletion 23714750
esv3568343 CNV gain 25503493
esv3581336 CNV loss 25503493
esv3581340 CNV loss 25503493
esv3635076 CNV gain 21293372
esv3635077 CNV gain 21293372
esv4614 CNV loss 18987735
esv5863 CNV loss 19470904
esv7865 CNV loss 19470904
nsv1038949 CNV gain 25217958
nsv1070229 CNV deletion 25765185
nsv1147175 CNV deletion 26484159
nsv1147420 CNV deletion 26484159
nsv1374 CNV insertion 18451855
nsv456346 CNV loss 19166990
nsv565291 CNV loss 21841781
nsv832840 CNV gain 17160897
nsv832841 CNV gain 17160897
nsv9159 CNV loss 18304495
nsv952874 CNV duplication 24416366
nsv958743 CNV deletion 24416366
nsv974354 CNV duplication 23825009
nsv983844 CNV duplication 23825009

Variation tolerance for TSHR Gene

Residual Variation Intolerance Score: 16.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.70; 73.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSHR Gene

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

Disorders for TSHR Gene

MalaCards: The human disease database

(46) MalaCards diseases for TSHR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypothyroidism, congenital, nongoitrous, 1
  • rtsh
hyperthyroidism, familial gestational
  • familial gestational hyperthyroidism
hyperthyroidism, nonautoimmune
  • hyperthyroidism, congenital nonautoimmune
familial hyperthyroidism due to mutations in tsh receptor
  • hyperthyroidism, nonautoimmune
hypothyroidism, congenital, nongoitrous, 2
  • chng2
- elite association - COSMIC cancer census association via MalaCards
Search TSHR in MalaCards View complete list of genes associated with diseases


  • Familial gestational hyperthyroidism (HTFG) [MIM:603373]: A condition characterized by abnormally high levels of serum thyroid hormones occurring during early pregnancy. {ECO:0000269 PubMed:9854118}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]: A condition characterized by abnormally high levels of serum thyroid hormones, thyroid hyperplasia, goiter and lack of anti-thyroid antibodies. Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent. {ECO:0000269 PubMed:10199795, ECO:0000269 PubMed:10852462, ECO:0000269 PubMed:11081252, ECO:0000269 PubMed:11127522, ECO:0000269 PubMed:11201847, ECO:0000269 PubMed:11517004, ECO:0000269 PubMed:11549687, ECO:0000269 PubMed:15163335, ECO:0000269 PubMed:7800007, ECO:0000269 PubMed:7920658, ECO:0000269 PubMed:8636266, ECO:0000269 PubMed:8964822, ECO:0000269 PubMed:9349581, ECO:0000269 PubMed:9360555, ECO:0000269 PubMed:9398746, ECO:0000269 PubMed:9589634}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]: 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. It 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. {ECO:0000269 PubMed:10720030, ECO:0000269 PubMed:11095460, ECO:0000269 PubMed:11442002, ECO:0000269 PubMed:12050212, ECO:0000269 PubMed:14725684, ECO:0000269 PubMed:15531543, ECO:0000269 PubMed:25978107, ECO:0000269 PubMed:7528344, ECO:0000269 PubMed:8954020, ECO:0000269 PubMed:9100579, ECO:0000269 PubMed:9185526, ECO:0000269 PubMed:9329388}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Autoantibodies against TSHR are directly responsible for the pathogenesis and hyperthyroidism of Graves disease. Antibody interaction with TSHR results in an uncontrolled receptor stimulation.
  • Note=Defects in TSHR are found in patients affected by hyperthyroidism with different etiologies. Somatic, constitutively activating TSHR mutations and/or constitutively activating G(s)alpha mutations have been identified in toxic thyroid nodules (TTNs) that are the predominant cause of hyperthyroidism in iodine deficient areas. These mutations lead to TSH independent activation of the cAMP cascade resulting in thyroid growth and hormone production. TSHR mutations are found in 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. Defects in TSHR are also a cause of thyroid neoplasms (papillary and follicular cancers).

Genatlas disease for TSHR Gene

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

Additional Disease Information for TSHR

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TSHR: view

Publications for TSHR Gene

  1. Prevalence of TSH receptor and Gsalpha mutations in 45 autonomously functioning thyroid nodules in Japan. (PMID: 19550078) Nishihara E … Miyauchi A (Endocrine journal 2009) 3 22 44 58
  2. Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. (PMID: 19244275) Brand OJ … Gough SC (Human molecular genetics 2009) 3 22 44 58
  3. Influence of the TSH receptor gene on susceptibility to Graves' disease and Graves' ophthalmopathy. (PMID: 18925838) Yin X … Davies TF (Thyroid : official journal of the American Thyroid Association 2008) 3 22 44 58
  4. Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. (PMID: 18514160) Arnaud-Lopez L … Naitza S (American journal of human genetics 2008) 3 22 44 58
  5. Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism. (PMID: 18379122) Yuan ZF … Zhao ZY (Endocrine journal 2008) 3 22 44 58

Products for TSHR Gene

  • Addgene plasmids for TSHR

Sources for TSHR Gene

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