Details for Gene KISS1R

GENE NAME KISS1R
CHROMOSOME 19
ENSEMBL ID None
ENTREZ ID ENSG00000116014
UNIPROT ACCESSION NUMBER Q969F8
GO MOLECULAR FUNCTION ['G protein-coupled peptide receptor activity', 'neuropeptide receptor activity', 'protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04080; hsa04929; R-HSA-162582; R-HSA-372790; R-HSA-373076; R-HSA-375276; R-HSA-388396; R-HSA-416476; R-HSA-500792
15 combinations linked to KISS1R OLI1345; OLI1596; OLI780; OLI375; OLI1355; OLI1284; OLI366; OLI861; OLI1265; OLI208; OLI1291; OLI1264; OLI895; OLI1281; OLI1400
14 variants linked to KISS1R KISS1R:p.Gly56AlafsTer21; KISS1R:c.565G>A, p.Ala189Thr; KISS1R:c.581C>A, p.Ala194Asp; KISS1R:c.401C>T, p.Thr134Ile; KISS1R:c.587C>A, p.Pro196His; KISS1R:c.555del, p.Pro187ArgfsTer132; KISS1R:c.515C>T, p.Ala172Val; KISS1R:c.424T>G, p.Tyr142Asp; KISS1R:c.1195T>A, p.Ter399Arg; KISS1R:c.407T>G, p.Met136Arg; KISS1R:c.149C>A, p.Ala50Glu; KISS1R:c.929G>A, p.Cys310Tyr; KISS1R:c.991C>T, p.Arg331Ter; KISS1R:c.772C>T, p.Arg258Trp
3 diseases linked to KISS1R Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with absent puberty phenotype; Kallmann syndrome
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