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... See more...

Aliases for TSHR Gene

Aliases for TSHR Gene

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

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 Signaling by GPCR and Human Thyroid Stimulating Hormone (TSH) 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 Summary 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

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

Genomics for TSHR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TSHR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J080954 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 256.8 +0.2 229 1.7 ZNF654 MXD4 CTCF REST MAX ZNF217 SIN3A SAP130 RAD21 SMC3 TSHR HSALNG0102761 CEP128 NMNAT1P1 HSALNG0102762 lnc-CEP128-1
GH14J080956 Promoter/Enhancer 0.8 Ensembl dbSUPER 255.1 +1.8 1811 1.2 ZIC2 MAFF ZNF316 MAFK SPI1 MAFG EMSY TSHR HSALNG0102762 CEP128 lnc-CEP128-1
GH14J080972 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 18.4 +20.8 20778 6.3 FEZF1 CTCF MAFF ZNF843 MAFK ZNF384 DPF2 HNF4A ZBTB21 GLIS1 TSHR CEP128 NMNAT1P1 BHLHB9P1 lnc-CEP128-1 GTF2A1
GH14J080992 Enhancer 0.6 FANTOM5 19 +37.5 37546 0.3 RXRA ZBTB33 JUND HNF4A RAD21 SP1 HNF4G ATF3 GABPA NR2F2 TSHR CEP128 SNORA79 GTF2A1 HSALNG0102763 lnc-NRXN3-4
GH14J081018 Enhancer 0.7 FANTOM5 Ensembl 12.9 +63.4 63411 2 IRF2 ZNF316 ZNF384 MAFG ATF4 ARID1B EMSY TSHR CEP128 NMNAT1P1 HSALNG0102765 LOC105370596 ENSG00000284959 GTF2A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the TSHR gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB

Genomic Locations for TSHR Gene

Latest Assembly
chr14:80,954,989-81,146,306
(GRCh38/hg38)
Size:
191,318 bases
Orientation:
Plus strand

Previous Assembly
chr14:81,421,965-81,612,650
(GRCh37/hg19 by Entrez Gene)
Size:
190,686 bases
Orientation:
Plus strand

chr14:81,421,333-81,612,646
(GRCh37/hg19 by Ensembl)
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 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).
    SequenceCaution:
    • Sequence=AAA70232.1; Type=Frameshift; 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

Post-translational modifications for TSHR Gene

  • Glycosylated.
  • Sulfated. Sulfation on Tyr-385 plays a role in thyrotropin receptor binding and activation.
  • Glycosylation at Asn77, Asn99, Asn113, Asn177, Asn198, and Asn302
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for TSHR Gene

Domains & Families for TSHR Gene

Gene Families for TSHR Gene

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

Protein Domains for TSHR Gene

InterPro:
Blocks:
  • Leucine-rich repeat signature
  • Glycoprotein hormone receptor signature
  • Thyrotropin receptor precursor signature

Suggested Antigen Peptide Sequences for TSHR Gene

GenScript: Design optimal peptide antigens:
  • TSHR protein (A0PJU7_HUMAN)
  • cDNA FLJ56543, highly similar to Thyrotropin receptor (B4E0H2_HUMAN)
  • Thyroid stimulating hormone receptor (O43200_HUMAN)
  • TSHR protein (Q0VAP8_HUMAN)
  • Thyroid-stimulating hormone receptor (TSHR_HUMAN)

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.
Family:
  • 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

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).
GENATLAS Biochemistry:
thyroid stimulating hormone,receptor,G protein coupled receptor superfamily,thyroid hormone synthesis and metabolism pathway

Phenotypes From GWAS Catalog for TSHR Gene

Gene Ontology (GO) - Molecular Function for TSHR Gene

GO ID Qualified GO term Evidence PubMed IDs
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 21873635
GO:0016500 protein-hormone receptor activity IEA --
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:
  • Tshr Tshr<tm1Rmar>

miRNA for TSHR Gene

miRTarBase miRNAs that target TSHR

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSHR

Clone products for research

  • 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSHR gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TSHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0009986 cell surface ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of 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 IMP 12045258
genes like me logo Genes that share ontologies with TSHR: view

Drugs & Compounds for TSHR Gene

(50) 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 Agonist, Full agonist 0
ML224 Pharma 0
[<SUP>125</SUP>I]TSH (HUMAN) Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>125</sup>I]TSH
Agonist, Full 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 for research

Transcripts for TSHR Gene

mRNA/cDNA for TSHR Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSHR

Clone products for research

  • 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
TSHR

Expression for TSHR Gene

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



Protein tissue co-expression partners for TSHR Gene

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

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

Evidence on tissue expression from TISSUES for TSHR Gene

  • Thyroid gland(4.8)
  • Nervous system(2.5)
  • Kidney(2.4)
  • Intestine(2.4)
  • Muscle(2.3)
  • Blood(2.2)
  • Adrenal gland(2.1)
  • Skin(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • uterus
Limb:
  • 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
General:
  • 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

Primer products for research

Orthologs for TSHR Gene

This gene was present in the common ancestor of animals.

Orthologs for TSHR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TSHR 29 30
  • 99.39 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TSHR 29 30
  • 90.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TSHR 29 30
  • 87.99 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tshr 29 16 30
  • 86.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tshr 29
  • 84.55 (n)
Oppossum
(Monodelphis domestica)
Mammalia TSHR 30
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TSHR 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TSHR 29 30
  • 71.63 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TSHR 30
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tshr 29
  • 67.61 (n)
Zebrafish
(Danio rerio)
Actinopterygii tshr 29 30
  • 63.86 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12132 29
Fruit Fly
(Drosophila melanogaster)
Insecta Fsh 31
  • 37 (a)
rk 31
  • 34 (a)
Lgr1 30
  • 32 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C50H2.1 31
  • 30 (a)
fshr-1 30
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 38 (a)
OneToMany
Species where no ortholog for TSHR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TSHR Gene

ENSEMBL:
Gene Tree for TSHR (if available)
TreeFam:
Gene Tree for TSHR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSHR: view image
Alliance of Genome Resources:
Additional Orthologs for TSHR

Paralogs for TSHR Gene

Paralogs for TSHR Gene

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

  • TSHR_HUMAN
  • F5GYU5_HUMAN
  • G3V381_HUMAN
  • O43200_HUMAN
  • Q0VAP8_HUMAN
genes like me logo Genes that share paralogs with TSHR: view

Variants for TSHR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TSHR Gene

TSHR_HUMAN-P16473
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSHR Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1029802 Uncertain Significance: Hyperthyroidism, familial gestational 81,144,340(+) A/C
NM_000369.5(TSHR):c.2282A>C (p.Gln761Pro)
MISSENSE
1031536 Pathogenic: Hyperthyroidism, familial gestational 81,108,427(+) G/T
NM_000369.5(TSHR):c.667G>T (p.Gly223Ter)
NONSENSE
884222 Uncertain Significance: Hypothyroidism, congenital, nongoitrous, 1; Hyperthyroidism, nonautoimmune 81,143,280(+) T/C
NM_000369.5(TSHR):c.1222T>C (p.Cys408Arg)
MISSENSE
884223 Conflicting Interpretations: Hypothyroidism, congenital, nongoitrous, 1; Hyperthyroidism, nonautoimmune 81,143,399(+) C/T
NM_000369.5(TSHR):c.1341C>T (p.Asn447=)
SYNONYMOUS
884296 Uncertain Significance: Hypothyroidism, congenital, nongoitrous, 1; Hyperthyroidism, nonautoimmune 81,144,212(+) T/C
NM_000369.5(TSHR):c.2154T>C (p.Asp718=)
SYNONYMOUS

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

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

Structural Variations from Database of Genomic Variants (DGV) for 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)
TSHR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSHR
Leiden Open Variation Database (LOVD)
TSHR

SNP Genotyping and Copy Number Assays for research

Disorders for TSHR Gene

MalaCards: The human disease database

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

- 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
  • 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).
  • 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.
  • 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 variants affecting the gene represented in this entry.
  • 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 variants 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 variants affecting the gene represented in this entry.

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

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Publications for TSHR Gene

  1. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. (PMID: 9329388) Biebermann H … Grüters A (The Journal of clinical endocrinology and metabolism 1997) 3 4 22 72
  2. Mutations of GNAS and TSHR genes in subclinical toxic multinodular goiter. (PMID: 20336923) Liu C … Zhou M (The Annals of otology, rhinology, and laryngology 2010) 3 22 40
  3. United detection GNAS and TSHR mutations in subclinical toxic multinodular goiter. (PMID: 19826830) Liu C … Zhou M (European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2010) 3 22 40
  4. 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 40
  5. Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. (PMID: 19244275) Brand OJ … Gough SC (Human molecular genetics 2009) 3 22 40

Products for TSHR Gene

  • Addgene plasmids for TSHR

Sources for TSHR Gene