GENE NAME | ROBO3 |
CHROMOSOME | 11 |
ENSEMBL ID | ENSG00000154134 |
ENTREZ ID | 64221 |
UNIPROT ACCESSION NUMBER | Q96MS0 |
GO MOLECULAR FUNCTION | protein binding; cell-cell adhesion mediator activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04360 |
4 combinations linked to ROBO3 | OLI900; OLI862; OLI892; OLI888 |
4 variants linked to ROBO3 | ROBO3:c.3742C>T, p.Arg1248Ter; ROBO3:c.2763G>C, p.Glu921Asp; ROBO3:c.2108G>A, p.Arg703Gln; ROBO3:c.2171C>A, p.Pro724Gln |
2 diseases linked to ROBO3 | Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome |