| GENE NAME | PROK2 |
| CHROMOSOME | 3 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000163421 |
| UNIPROT ACCESSION NUMBER | Q9HC23 |
| GO MOLECULAR FUNCTION | ['G protein-coupled receptor binding', 'protein binding'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-162582; R-HSA-372790; R-HSA-373076; R-HSA-375276; R-HSA-388396; R-HSA-416476; R-HSA-500792 |
| 8 combinations linked to PROK2 | OLI1297; OLI287; OLI1557; OLI1651; OLI1414; OLI201; OLI396; OLI834 |
| 8 variants linked to PROK2 | PROK2:c.349C>T, p.Arg117Trp; PROK2:c.208_209del, p.Pro70ThrfsTer4; PROK2:c.70G>C, p.Ala24Pro; PROK2:c.301C>T, p.Arg101Trp; PROK2:c.137G>T, p.Cys45Phe; PROK2:c.163del, p.Ser54_Ile55insTer; PROK2:c.96+4A>G, ; PROK2:c.163del, p.Ile55Ter |
| 6 diseases linked to PROK2 | Kallmann syndrome; Syndrome with 46,XY disorder of sex development; Isolated congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with absent puberty phenotype; Normosmic congenital hypogonadotropic hypogonadism; Congenital hypogonadotropic hypogonadism |