Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | TSHR | contributors: mct/npt - updated : 25-08-2009 |
HGNC name | thyroid stimulating hormone receptor |
HGNC id | 12373 |
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EXPRESSION |
Type |
constitutive of |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cells |
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cell lineage
cell lines
| orbital fibroblasts, after adipocytic differentiation, from thyroid-associated ophthalmopathy patients | fluid/secretion
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at STAGE |
physiological period | embryo |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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conjugated | GlycoP |
mono polymer | homomer , heteromer , dimer |
isoforms | Precursor | of extracellular alpha and membrane spanning beta chains |
HOMOLOGY |
interspecies | homolog to rattus Tshr (85.86 pc) |
homolog to murine Tshr (86.78 pc) |
Homologene |
FAMILY | |
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CATEGORY | receptor membrane G |
SUBCELLULAR LOCALIZATION | plasma membrane |
text | upon thyrotropin binding the thyrotropin receptor is internalized and localized to endosome |
basic FUNCTION | |
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CELLULAR PROCESS | cell life, proliferation/growth |
cell communication |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism | hormone |
signaling | hormonal |
signaling through JAK/STAT3 pathways |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | TSHR , GHTF , HFTA |
related resource | TSH Receptor mutation database |
Susceptibility | to Graves disease (GD) |
Variant & Polymorphism SNP | SNPs within a 40 kb region of TSHR intron 1 are highly associated with GD (Brand 2009) |
Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |
in a mouse model of Graves disease, goiter and hyperthyroidism occurred to a significantly greater extent when the adenovirus expressed the free alpha subunit as opposed to a genetically modified TSHR that cleaves minimally into subunits | |
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