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
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinethyroid   predominantly
Lymphoid/Immunethymus   highly
Nervousbrain   lowly
 nervecranial nerve  moderately
Reproductivefemale systemovary  highly
 female systembreastmammary gland lowly
 female systemuterus  lowly
Respiratorylung   lowly
Visualeye   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  lowly
Connectivebone  lowly
Epithelialsecretoryglandularendocrinemoderately
Muscular   lowly
Nervouscentral  moderately
Nervousperipherous  moderately
cells
SystemCellPubmedSpeciesStageRna symbol
Lymhoid/Immunelymphocyte
Nervousastrocyte
Nervousneuron
Skeletonosteoblast
Skeletonosteoclast
cell lineage
cell lines orbital fibroblasts, after adipocytic differentiation, from thyroid-associated ophthalmopathy patients
fluid/secretion
at STAGE
physiological period embryo
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a large N terminal extracytoplasmic ectodomain
  • six leucine-rich repeat motifs
  • a signal peptide of 21 AA
  • seven transmembrane segments (7TM)
  • a C terminal cytoplasmic tail
  • 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
  • G protein coupled receptor 1 superfamily
  • FSH/LSH/TSH subfamily
  • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    text upon thyrotropin binding the thyrotropin receptor is internalized and localized to endosome
    basic FUNCTION
  • activating adenylate cyclase in response to TSH, and activating phosphoinositide turnover to
  • involved in thyroid hormone synthesis and metabolism pathway
  • also acting as a receptor for thyrostimulin
  • CELLULAR PROCESS cell life, proliferation/growth
    cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism hormone
    signaling hormonal
    signaling through JAK/STAT3 pathways
    a component
  • forming homodimers or heterodimers with lutropin (LH/CGr) receptor
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with autoantibodies against the TSH receptor, (thyroid-stimulating immunoglobulins) TSI
  • 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
    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
  • in conclusion, shed alpha subunits induce or amplify the immune response leading to hyperthyroidism in Graves disease