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 |