Details for Gene PLXNB1

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 OLI885; OLI889; OLI880; OLI878; OLI869; OLI902; OLI888
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

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