Details for Gene PROKR2

GENE NAME PROKR2
CHROMOSOME 20
ENSEMBL ID None
ENTREZ ID ENSG00000101292
UNIPROT ACCESSION NUMBER None
GO MOLECULAR FUNCTION ['neuropeptide Y receptor activity', 'protein binding', 'G protein-coupled receptor activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-162582; R-HSA-372790; R-HSA-373076; R-HSA-375276; R-HSA-388396; R-HSA-416476; R-HSA-500792
84 combinations linked to PROKR2 OLI1213; OLI1567; OLI1292; OLI1214; OLI1270; OLI1303; OLI1525; OLI868; OLI887; OLI865; OLI1261; OLI870; OLI900; OLI1548; OLI396; OLI286; OLI1280; OLI895; OLI205; OLI864; OLI848; OLI851; OLI207; OLI1171; OLI1108; OLI208; OLI014; OLI859; OLI892; OLI1547; OLI1295; OLI152; OLI285; OLI1516; OLI834; OLI119; OLI196; OLI1276; OLI1540; OLI204; OLI1262; OLI1269; OLI1110; OLI1337; OLI849; OLI1289; OLI1281; OLI1341; OLI1338; OLI1164; OLI1356; OLI1558; OLI1294; OLI648; OLI1169; OLI1109; OLI890; OLI852; OLI1288; OLI1272; OLI1536; OLI1351; OLI899; OLI036; OLI847; OLI863; OLI689; OLI1393; OLI373; OLI1278; OLI1320; OLI206; OLI862; OLI165; OLI1342; OLI1016; OLI855; OLI836; OLI1293; OLI816; OLI1544; OLI833; OLI498; OLI1297
38 variants linked to PROKR2 PROKR2:c.253C>T, p.Arg85Cys; PROKR2:c.518T>G, p.Leu173Arg; PROKR2:c.238C>T, p.Arg80Cys; PROKR2:c.604A>G, p.Ser202Gly; PROKR2:p.Arg85Leu; PROKR2:p.Val331Met; PROKR2:c.802C>T, p.Arg268Cys; PROKR2:c.343G>A, p.Val115Met; PROKR2:c.151G>A, p.Ala51Thr; PROKR2:c.1069C>T, p.Arg357Trp; PROKR2:c.743G>A, p.Arg248Gln; PROKR2:c.533G>C, p.Trp178Ser; PROKR2:c.308C>T, p.Ala103Val; PROKR2:c.271C>T, p.Leu91Phe; PROKR2:c.653T>C, p.Leu218Pro; PROKR2:c.238delC, p.Arg80AlafsTer82; PROKR2:c.239G>A, p.Arg80His; PROKR2:c.905C>T, p.Pro302Leu; PROKR2:c.565G>T, p.Ala189Ser; PROKR2:c.337T>C, p.Tyr113His; PROKR2:c.563C>T, p.Ser188Leu; PROKR2:c.802C>T, p.Arg268Cys; PROKR2:c.254G>A, p.Arg85His; PROKR2:c.390C>T, p.Ser130=; PROKR2:c.868C>T, p.Pro290Ser; PROKR2:c.614_616del, p.Lys205del; PROKR2:c.518T>G, p.Leu173Arg; PROKR2:c.238C>T, p.Arg80Cys; PROKR2:c.472G>A, p.Val158Ile; PROKR2:c.58delC, p.His20MetfsTer24; PROKR2:c.916G>A, p.Val306Met; PROKR2:c.1145G>A, p.Arg382Lys; PROKR2:c.403C>T, p.Arg135Cys; PROKR2:c.253C>T, p.Arg85Cys; PROKR2:c.1000G>A, p.Val334Met; PROKR2:c.691G>A, p.Glu231Lys; PROKR2:c.169G>T, p.Gly57Cys; PROKR2:c.868C>T, p.Pro290Ser
7 diseases linked to PROKR2 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development; Pituitary stalk interruption syndrome; Isolated congenital hypogonadotropic hypogonadism; Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with partial puberty phenotype; Kallmann syndrome
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