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 |