| GENE NAME | RAB3GAP2 |
| CHROMOSOME | 1 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000118873 |
| UNIPROT ACCESSION NUMBER | Q9H2M9 |
| GO MOLECULAR FUNCTION | ['GTPase activator activity', 'small GTPase binding', 'enzyme regulator activity', 'guanyl-nucleotide exchange factor activity', 'enzyme activator activity', 'protein binding'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | R-HSA-199991; R-HSA-5653656; R-HSA-6811436; R-HSA-6811442; R-HSA-8856688; R-HSA-8876198; R-HSA-9007101 |
| 3 combinations linked to RAB3GAP2 | OLI1426; OLI1381; OLI1427 |
| 3 variants linked to RAB3GAP2 | RAB3GAP2:c.590G>A, p.Arg197Gln; RAB3GAP2:c.585A>G, p.Ile195Met; RAB3GAP2:c.4060A>G, p.Ile1354Val |
| 2 diseases linked to RAB3GAP2 | Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype |