| GENE NAME | DMXL2 |
| CHROMOSOME | 15 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000104093 |
| UNIPROT ACCESSION NUMBER | Q8TDJ6 |
| GO MOLECULAR FUNCTION | ['small GTPase binding'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | |
| 7 combinations linked to DMXL2 | OLI1406; OLI1425; OLI849; OLI1392; OLI1377; OLI1401; OLI814 |
| 7 variants linked to DMXL2 | DMXL2:c.3104C>G, p.Pro1035Arg; DMXL2:c.4878G>C, p.Gln1626His; DMXL2:c.4187C>T, p.Ser1396Phe; DMXL2:c.812C>G, p.Thr271Ser; DMXL2:c.7179_7181del, p.Val2394del; DMXL2:c.6067C>G, p.Pro2023Ala; DMXL2:c.6046G>A, p.Asp2016Asn |
| 4 diseases linked to DMXL2 | Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype; Kallmann syndrome |