Details for Gene GNRHR

GENE NAME GNRHR
CHROMOSOME 4
ENSEMBL ID None
ENTREZ ID ENSG00000109163
UNIPROT ACCESSION NUMBER P30968
GO MOLECULAR FUNCTION ['peptide binding', 'G protein-coupled receptor activity', 'gonadotropin-releasing hormone receptor activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04080; hsa04912; R-HSA-162582; R-HSA-372790; R-HSA-373076; R-HSA-375281; R-HSA-388396; R-HSA-416476; R-HSA-500792
33 combinations linked to GNRHR OLI1275; OLI896; OLI1517; OLI1403; OLI1239; OLI165; OLI201; OLI1597; OLI902; OLI1296; OLI1167; OLI195; OLI866; OLI851; OLI1273; OLI198; OLI1595; OLI1379; OLI1300; OLI1385; OLI199; OLI1377; OLI780; OLI1604; OLI1166; OLI1387; OLI1165; OLI1532; OLI428; OLI1288; OLI1590; OLI207; OLI1277
21 variants linked to GNRHR GNRHR:c.401T>G, p.Val134Gly; GNRHR:c.247C>G, p.Leu83Val; GNRHR:c.317A>G, p.Gln106Arg; GNRHR:c.785G>A, p.Arg262Gln; GNRHR:c.268G>A, p.Glu90Lys; GNRHR:p.Arg240Gln; GNRHR:c.662T>A, p.Ile221Asn; GNRHR:p.Thr269Met; GNRHR:c.453C>T, p.Ser151=; GNRHR:c.342C>A, p.Cys114Ter; GNRHR:c.416G>A, p.Arg139His; GNRHR:c.30_31delinsAA, p.Asn10_Gln11delinsLysLys; GNRHR:c.378T>A, p.Tyr126Ter; GNRHR:c.718C>T, p.Arg240Trp; GNRHR:c.636C>G, p.Asn212Lys; GNRHR:c.436C>T, p.Pro146Ser; GNRHR:c.31C>A, p.Gln11Lys; GNRHR:c.30T>A, p.Asn10Lys; GNRHR:c.350T>G, p.Leu117Arg; GNRHR:c.266T>A, p.Leu89Ter; GNRHR:c.784C>T, p.Arg262Trp
8 diseases linked to GNRHR 46,XY disorder of sex development; Isolated congenital hypogonadotropic hypogonadism; Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype; Recurrent Pregnancy Loss,Recurrent implantation failure,Primary infertility; Kallmann syndrome
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