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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
  • 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 hyperthyroidism, familial gestational and hypothyroidism, congenital, nongoitrous, 1. Among its related pathways are Allograft rejection and cAMP signaling pathway. 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 LGR6.

UniProtKB/Swiss-Prot for TSHR Gene

  • 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).

Gene Wiki entry for TSHR Gene

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

Genomics for TSHR Gene

Regulatory Elements for TSHR Gene

Enhancers for TSHR Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TSHR on UCSC Golden Path with GeneCards custom track

Promoters for TSHR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TSHR on UCSC Golden Path with GeneCards custom track

Genomic Location for TSHR Gene

Chromosome:
14
Start:
80,954,989 bp from pter
End:
81,146,302 bp from pter
Size:
191,314 bases
Orientation:
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:
    P16473-TSHR_HUMAN
    Recommended name:
    Thyrotropin receptor
    Protein Accession:
    P16473
    Secondary Accessions:
    • A0PJU7
    • F5GYU5
    • G3V2A9
    • Q16503
    • Q8TB90
    • Q96GT6
    • Q9P1V4
    • Q9ULA3
    • Q9UPH3

    Protein attributes for TSHR Gene

    Size:
    764 amino acids
    Molecular mass:
    86830 Da
    Quaternary structure:
    • Interacts (via the PDZ-binding motif) with SCRIB; regulates TSHR trafficking and function.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for TSHR Gene

Proteomics data for TSHR Gene at MOPED

Post-translational modifications for TSHR Gene

  • Glycosylation at Asn 77, Asn 99, Asn 113, Asn 177, Asn 198, and Asn 302
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for TSHR Gene

Domains & Families for TSHR Gene

Gene Families for TSHR Gene

Graphical View of Domain Structure for InterPro Entry

P16473

UniProtKB/Swiss-Prot:

TSHR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
  • Contains 7 LRR (leucine-rich) repeats.
Family:
  • Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
Similarity:
  • Contains 7 LRR (leucine-rich) repeats.
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 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).
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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TSHR Gene COMPARTMENTS Subcellular localization image for TSHR gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TSHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 8552586
genes like me logo Genes that share ontologies with TSHR: view

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:0007186 G-protein coupled receptor signaling pathway IEA,TAS 8552586
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway IBA --
GO:0007190 activation of adenylate cyclase activity IBA --
GO:0007267 cell-cell signaling TAS 7920658
GO:0007399 nervous system development IBA --
genes like me logo Genes that share ontologies with TSHR: view

Drugs & Compounds for TSHR Gene

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

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>125</sup>I]TSH
Full agonist, Agonist
genes like me logo Genes that share compounds with TSHR: view

Transcripts for TSHR Gene

Unigene Clusters for TSHR Gene

Thyroid stimulating hormone receptor:
Representative Sequences:

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

No ASD Table

Relevant External Links for TSHR Gene

GeneLoc Exon Structure for
TSHR
ECgene alternative splicing isoforms for
TSHR

Expression for TSHR Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for TSHR Gene Hs.160411

mRNA Expression by UniProt/SwissProt for TSHR Gene

P16473-TSHR_HUMAN
Tissue specificity: Expressed in the thyroid.
genes like me logo Genes that share expression patterns with TSHR: view

Protein tissue co-expression partners for TSHR Gene

Primer Products

In Situ Assay Products

Orthologs for TSHR Gene

This gene was present in the common ancestor of animals.

Orthologs for TSHR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TSHR 35
  • 87.99 (n)
  • 87.29 (a)
TSHR 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TSHR 35
  • 90.02 (n)
  • 90.11 (a)
TSHR 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tshr 35
  • 86.17 (n)
  • 86.78 (a)
Tshr 16
Tshr 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TSHR 35
  • 99.39 (n)
  • 98.95 (a)
TSHR 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tshr 35
  • 84.55 (n)
  • 85.86 (a)
oppossum
(Monodelphis domestica)
Mammalia TSHR 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSHR 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves TSHR 35
  • 71.63 (n)
  • 74.09 (a)
TSHR 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSHR 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tshr 35
  • 67.61 (n)
  • 69.08 (a)
zebrafish
(Danio rerio)
Actinopterygii tshr 35
  • 63.86 (n)
  • 62.55 (a)
tshr 36
  • 57 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12132 35
fruit fly
(Drosophila melanogaster)
Insecta Fsh 37
  • 37 (a)
rk 37
  • 34 (a)
Lgr1 36
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C50H2.1 37
  • 30 (a)
fshr-1 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for TSHR:
  • 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

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

P16473-TSHR_HUMAN
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 Sequence Context AA Info Type
VAR_003564 -
VAR_003565 -
VAR_003566 Familial gestational hyperthyroidism (HTFG)
VAR_003567 Papillary cancer
VAR_003568 Papillary cancer

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

Variant ID Type Subtype PubMed ID
nsv832840 CNV Gain 17160897
nsv456346 CNV Loss 19166990
nsv482971 CNV Gain 15286789
esv2585992 CNV Deletion 19546169
esv2036394 CNV Deletion 18987734
esv2748926 CNV Deletion 23290073
esv5863 CNV Loss 19470904
nsv1374 CNV Insertion 18451855
esv2748927 CNV Deletion 23290073
nsv9159 CNV Loss 18304495
nsv832841 CNV Gain 17160897
esv2495579 CNV Deletion 19546169
esv2265006 CNV Deletion 18987734
esv4614 CNV Deletion 18987735
esv2748928 CNV Deletion 23290073
esv7865 CNV Loss 19470904
esv2661838 CNV Deletion 23128226

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)

Relevant External Links for TSHR Gene

HapMap Linkage Disequilibrium report
TSHR
Human Gene Mutation Database (HGMD)
TSHR

Disorders for TSHR Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hyperthyroidism, familial gestational
  • familial gestational hyperthyroidism
hypothyroidism, congenital, nongoitrous, 1
  • hypothyroidism, congenital, nongoitrous, 3
hyperthyroidism, nonautoimmune
  • familial hyperthyroidism due to mutations in tsh receptor
familial hyperthyroidism due to mutations in tsh receptor
  • hyperthyroidism, nonautoimmune
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
  • hypothyroidism, congenital, nongoitrous, 1
- elite association - COSMIC cancer census association via MalaCards
Search TSHR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TSHR_HUMAN
  • 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

Relevant External Links for TSHR

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

Publications for TSHR Gene

  1. Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects. (PMID: 12788902) Peeters R.P. … Visser T.J. (J. Clin. Endocrinol. Metab. 2003) 3 4 48 67
  2. TSH receptor and thyroid-specific gene expression in human skin. (PMID: 19641516) Cianfarani F. … D'Armiento M. (J. Invest. Dermatol. 2010) 3 23
  3. Thyrostimulin, but not thyroid-stimulating hormone (TSH), acts as a paracrine regulator to activate the TSH receptor in mammalian ovary. (PMID: 19955180) Sun S.C. … Luo C.W. (J. Biol. Chem. 2010) 3 23
  4. Quantitation of thyroid-stimulating hormone receptor mRNA with real-time PCR for early diagnosis of papillary thyroid microcarcinoma. (PMID: 20429628) Qiu J. … Wu X. (Neoplasma 2010) 3 23
  5. [Transcription and promoter hypermethylation of thyroid stimulating hormone receptor gene in human papillary thyroid carcinoma]. (PMID: 20117998) Dai Y.L. … Li J. (Nan Fang Yi Ke Da Xue Xue Bao 2010) 3 23

Products for TSHR Gene

Sources for TSHR Gene

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