Details for Gene FSHR

GENE NAME FSHR
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000170820
UNIPROT ACCESSION NUMBER A0A1D5RMN4
GO MOLECULAR FUNCTION ['follicle-stimulating hormone receptor activity', 'G protein-coupled peptide receptor activity', 'protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04024; hsa04080; hsa04913; hsa04024; hsa04080; hsa04913; 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
4 combinations linked to FSHR OLI1040; OLI1722; OLI573; OLI1047
5 variants linked to FSHR FSHR:c.1532A>G, p.Tyr511Cys; FSHR:c.847C>T, p.Arg283Trp; FSHR:c.491C>T, p.Ser164Phe; FSHR:c.884C>T, p.Ser295Phe; FSHR:c.374T>G, p.Leu125Arg
2 diseases linked to FSHR Primary ovarian failure; Disorder of sex development

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