GENE NAME | PLXNB1 |
CHROMOSOME | 3 |
ENSEMBL ID | ENSG00000164050 |
ENTREZ ID | 5364 |
UNIPROT ACCESSION NUMBER | O43157 |
GO MOLECULAR FUNCTION | semaphorin receptor activity; GTPase activator activity; protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-1266738; R-HSA-416482; R-HSA-9675108; R-HSA-373755; R-HSA-416572; R-HSA-422475; R-HSA-400685; R-HSA-388396; hsa04360; R-HSA-416550; R-HSA-162582; R-HSA-372790 |
7 combinations linked to PLXNB1 | OLI902; OLI880; OLI869; OLI888; OLI889; OLI878; OLI885 |
5 variants linked to PLXNB1 | PLXNB1:c.4740C>A, p.His1580Gln; PLXNB1:c.1988A>G, p.Lys663Arg; PLXNB1:c.5624A>G, p.Asp1875Gly; PLXNB1:c.1126C>T, p.Pro376Ser; PLXNB1:c.2743T>C, p.Cys915Arg |
2 diseases linked to PLXNB1 | Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome |