GENE NAME | SLIT2 |
CHROMOSOME | 4 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000145147 |
UNIPROT ACCESSION NUMBER | O94813 |
GO MOLECULAR FUNCTION | ['protein homodimerization activity', 'Roundabout binding', 'identical protein binding', 'heparin binding', 'calcium ion binding', 'protein binding', 'proteoglycan binding', 'GTPase inhibitor activity', 'laminin-1 binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04360; R-HSA-1266738; R-HSA-373752; R-HSA-376176; R-HSA-422475; R-HSA-428540; R-HSA-428542; R-HSA-428543; R-HSA-428890; R-HSA-8985586; R-HSA-9010553; R-HSA-9675108 |
4 combinations linked to SLIT2 | OLI843; OLI883; OLI1744; OLI910 |
4 variants linked to SLIT2 | SLIT2:c.3076C>T, p.Pro1026Ser; SLIT2:c.2843G>A, p.Gly948Asp; SLIT2:c.4488G>T, p.Arg1496Ser; SLIT2:c.3877C>A, p.Leu1293Met |
3 diseases linked to SLIT2 | Normosmic congenital hypogonadotropic hypogonadism; Familial bicuspid aortic valve; Kallmann syndrome |