Details for Gene LRP2

GENE NAME LRP2
CHROMOSOME 2
ENSEMBL ID ENSG00000081479
ENTREZ ID 4036
UNIPROT ACCESSION NUMBER P98164
GO MOLECULAR FUNCTION calcium ion binding; protein binding; protein transporter activity; hormone binding; insulin-like growth factor I binding; chaperone binding; cargo receptor activity; low-density lipoprotein particle receptor activity; SH3 domain binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-196854; R-HSA-162582; R-HSA-372790; R-HSA-8957322; R-HSA-2187338; R-HSA-196791; R-HSA-6806667; R-HSA-8856825; R-HSA-1430728; hsa04340; R-HSA-556833; hsa04979; R-HSA-5653656; R-HSA-8856828; hsa04918; R-HSA-418594; R-HSA-975634; R-HSA-199991; R-HSA-388396
3 combinations linked to LRP2 OLI680; OLI686; OLI924
3 variants linked to LRP2 LRP2:p.Asn3205Asp; LRP2:p.Glu3089Lys; LRP2:c.2514_2517del, p.Gly838gs
2 diseases linked to LRP2 Holoprosencephaly; Transposition of the great arteries

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