Details for Gene RELN

GENE NAME RELN
CHROMOSOME 7
ENSEMBL ID None
ENTREZ ID ENSG00000189056
UNIPROT ACCESSION NUMBER P78509
GO MOLECULAR FUNCTION ['lipoprotein particle receptor binding', 'serine-type peptidase activity', 'very-low-density lipoprotein particle receptor binding', 'metal ion binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04151; hsa04510; hsa04512; hsa05017; hsa05165; R-HSA-1266738; R-HSA-422475; R-HSA-8866376; R-HSA-9675108
26 combinations linked to RELN OLI877; OLI901; OLI888; OLI1462; OLI854; OLI872; OLI900; OLI905; OLI1469; OLI1071; OLI1468; OLI1460; OLI1467; OLI878; OLI913; OLI886; OLI1465; OLI1464; OLI875; OLI876; OLI1463; OLI863; OLI1065; OLI907; OLI887; OLI846
24 variants linked to RELN RELN:c.491G>A, p.Arg164Gln; RELN:c.10108A>G, p.Thr3370Ala; RELN:c.3712A>C, p.Asn1238His; RELN:c.4441A>C, p.Lys1481Gln; RELN:c.5023C>G, p.Pro1675Ala; RELN:c.455C>T, p.Thr152Ile; RELN:c.3197C>T, p.Pro1066Leu; RELN:c.4746T>A, p.His1582Gln; RELN:c.2015C>T, p.Pro672Leu; RELN:c.3651C>G, p.Ile1217Met; RELN:c.7538C>G, p.Ser2513Cys; RELN:c.7634C>T, p.Ala2545Val; RELN:c.5618C>T, p.Thr1873Ile; RELN:c.6343G>A, p.Gly2115Ser; RELN:c.5961G>T, p.Lys1987Asn; RELN:c.5108C>G, p.Pro1703Arg; RELN:c.8795C>A, p.Ser2932Tyr; RELN:c.3477C>A, p.Asn1159Lys; RELN:c.2689G>A, p.Asp897Asn; RELN:c.334T>C, p.Phe112Leu; RELN:c.5923G>A, p.Gly1975Ser; RELN:c.7580C>A, p.Ser2527Tyr; RELN:c.59C>T, p.Thr20Met; RELN:c.6458G>A, p.Gly2153Asp
4 diseases linked to RELN Normosmic congenital hypogonadotropic hypogonadism; Rare pervasive developmental disorder; Primary ovarian failure; Kallmann syndrome
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