Details for Gene SLIT2

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

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