GENE NAME | PSEN2 |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000143801 |
ENTREZ ID | 5664 |
UNIPROT ACCESSION NUMBER | P49810 |
GO MOLECULAR FUNCTION | protein binding; peptidase activity |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-9013700; R-HSA-2894862; R-HSA-9012852; R-HSA-2644603; R-HSA-2894858; hsa05010; R-HSA-9006934; R-HSA-157118; R-HSA-2122948; R-HSA-204998; R-HSA-3928665; R-HSA-193704; R-HSA-2644606; R-HSA-9017802; R-HSA-2979096; R-HSA-2644602; R-HSA-1643685; R-HSA-193692; hsa04722; R-HSA-9013694; R-HSA-1980145; R-HSA-9013507; R-HSA-9675108; R-HSA-422475; R-HSA-1266738; hsa04330; R-HSA-2682334; R-HSA-1236394; R-HSA-162582; R-HSA-1980143; hsa05022; R-HSA-1251985; R-HSA-205043; R-HSA-5663202; R-HSA-73887 |
1 combination linked to PSEN2 | OLI657 |
1 variant linked to PSEN2 | PSEN2:c.236T>C, p.Leu79Pro |
1 disease linked to PSEN2 | Amyotrophic lateral sclerosis |