Details for Gene LRP5

GENE NAME LRP5
CHROMOSOME 11
ENSEMBL ID None
ENTREZ ID ENSG00000162337
UNIPROT ACCESSION NUMBER O75197
GO MOLECULAR FUNCTION ['coreceptor activity involved in Wnt signaling pathway', 'Wnt-protein binding', 'coreceptor activity involved in canonical Wnt signaling pathway', 'protein binding', 'Wnt-activated receptor activity', 'coreceptor activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04150; hsa04310; hsa04928; hsa05010; hsa05022; hsa05200; hsa05224; hsa05225; hsa05226; R-HSA-162582; R-HSA-1643685; R-HSA-195721; R-HSA-201681; R-HSA-3772470; R-HSA-4641262; R-HSA-4641263; R-HSA-4791275; R-HSA-5339717; R-HSA-5340588; R-HSA-5663202
22 combinations linked to LRP5 OLI1253; OLI306; OLI308; OLI315; OLI1249; OLI1256; OLI309; OLI1251; OLI307; OLI1258; OLI304; OLI1252; OLI303; OLI305; OLI1059; OLI1257; OLI1250; OLI1254; OLI419; OLI185; OLI310; OLI311
16 variants linked to LRP5 LRP5:c.3361A>G, p.Asn1121Asp; LRP5:c.3922G>A, p.Gly1308Ser; LRP5:c.3538G>A, p.Val1180Met; LRP5:c.2578T>C, p.Trp860Arg; LRP5:c.2092-4C>T, ; LRP5:c.4084A>G, p.Ile1362Val; LRP5:c.2306T>A, p.Leu769His; LRP5:c.4517C>T, p.Thr1506Met; LRP5:c.1330C>T, p.Arg444Cys; LRP5:c.4511C>T, p.Pro1504Leu; LRP5:c.58_60dup, p.Leu20dup; LRP5:c.3989C>T, p.Ala1330Val; LRP5:c.4488+2T>G, ; LRP5:c.1999G>A, p.Val667Met; LRP5:c.34_36del, p.Leu16_Leu20del; LRP5:c.4565C>T, p.Pro1522Leu
3 diseases linked to LRP5 Primary ovarian failure; Familial exudative vitreoretinopathy; Retinitis pigmentosa
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