Details for Gene TSHR

GENE NAME TSHR
CHROMOSOME 14
ENSEMBL ID None
ENTREZ ID ENSG00000165409
UNIPROT ACCESSION NUMBER A0A0A0MTJ0
GO MOLECULAR FUNCTION ['signaling receptor activity', 'thyroid-stimulating hormone receptor activity', 'protein binding', 'G protein-coupled peptide receptor activity', 'protein-containing complex binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04024; hsa04080; hsa04918; hsa04923; hsa05320; hsa04024; hsa04080; hsa04918; hsa04923; hsa05320; R-HSA-162582; R-HSA-1643685; R-HSA-372790; R-HSA-373076; R-HSA-375281; R-HSA-388396; R-HSA-418555; R-HSA-500792; R-HSA-5663205; R-HSA-9658195; R-HSA-9660821; R-HSA-9662851; R-HSA-9664433
26 combinations linked to TSHR OLI1073; OLI520; OLI1081; OLI589; OLI471; OLI986; OLI987; OLI585; OLI1074; OLI1494; OLI1075; OLI1483; OLI518; OLI1493; OLI1174; OLI1485; OLI1481; OLI586; OLI1175; OLI1806; OLI988; OLI581; OLI1499; OLI1495; OLI1076; OLI1482
23 variants linked to TSHR TSHR:c.1574T>C, p.Phe525Ser; TSHR:p.Cys176Arg; TSHR:p.Lys618Ter; TSHR:c.1516G>A, p.Glu506Lys; TSHR:c.692+1_692+4delGTGA, ; TSHR:p.Ser562Gly; TSHR:p.Ile640Leu; TSHR:p.Arg519His; TSHR:p.Pro162Ala; TSHR:p.Arg109Gln; TSHR:c.679G>A, p.Gly227Arg; TSHR:c.733G>A, p.Gly245Ser; TSHR:p.Arg528Ser; TSHR:p.Ala204Val; TSHR:c.2272G>A, p.Glu758Lys; TSHR:c.2252A>G, p.Lys751Arg; TSHR:c.326G>A, p.Arg109Gln; TSHR:c.2098A>G, p.Lys700Gly; TSHR:c.1060G>A, p.Val354Ile; TSHR:c.915T>A, p.Ser305Arg; TSHR:c.1582C>A, p.Arg528Ser; TSHR:c.611C>T, p.Ala204Val; TSHR:c.1574T>C, p.Phe525Ser
1 disease linked to TSHR Congenital hypothyroidism
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