| Gene ID | 5664 |
| Symbol | PSEN2 |
| Synonymous | AD3L|AD4|CMD1V|PS2|STM2 |
| Full name | presenilin 2 |
| Gene description | AD3LP|AD5|Alzheimer disease 4|E5-1|PS-2|STM-2|presenilin-2 |
| Cytoband | 1q42.13 |
| Gene type | protein-coding |
| Synonymous | MIM:600759; HGNC:HGNC:9509; Ensembl:ENSG00000143801; HPRD:02860; Vega:OTTHUMG00000037563 |
Pathways and Diseases | Detail |
|---|---|
Pathway | Notch signaling pathway;PANTHER;P00045 |
Pathway | LKB1 signaling events;PID Curated;200061 |
Pathway | Neurotrophin signaling pathway;KEGG PATHWAY;hsa04722 |
Pathway | Alzheimer disease-presenilin pathway;PANTHER;P00004 |
Pathway | Notch signaling pathway;KEGG PATHWAY;hsa04330 |
Pathway | Alzheimer's disease;KEGG PATHWAY;hsa05010 |
Pathway | Signaling by Notch;Reactome;REACT:299 |
Pathway | Signalling by NGF;Reactome;REACT:11061 |
Pathway | Alzheimer disease-amyloid secretase pathway;PANTHER;P00003 |
Disease | Cardiomyopathy, dilated, 1V;OMIM |
Disease | Alzheimer's disease;KEGG DISEASE;H00056 |
Disease | Alzheimer's disease;GAD |
Disease | Nervous system diseases;KEGG DISEASE |
Disease | Neurodegenerative diseases;KEGG DISEASE |
Disease | Alzheimer disease-4;OMIM |
Disease | NEUROLOGICAL;GAD |
Sequence Information | |
|---|---|
Nucleotide Sequence | >5664 : length: 2302 GGGGCCTGGGCCGGCGCCGGGTCCGGCCGGGCGCTCAGCCAGCTGCGTAAACTCCGCTGGAGCGCGGCGGCAGAGCAGGCATTTCCAGCAGTGAGGAGACAGCCAGAAGCAAGCTTTTGG AGCTGAAGGAACCTGAGACAGAAGCTAGTCCCCCCTCTGAATTTTACTGATGAAGAAACTGAGGCCACAGAGCTAAAGTGACTTTTCCCAAGGTCGCCCAGCGAGGACGTGGGACTTCTC AGACGTCAGGAGAGTGATGTGAGGGAGCTGTGTGACCATAGAAAGTGACGTGTTAAAAACCAGCGCTGCCCTCTTTGAAAGCCAGGGAGCATCATTCATTTAGCCTGCTGAGAAGAAGAA ACCAAGTGTCCGGGATTCAGACCTCTCTGCGGCCCCAAGTGTTCGTGGTGCTTCCAGAGGCAGGGCTATGCTCACATTCATGGCCTCTGACAGCGAGGAAGAAGTGTGTGATGAGCGGAC GTCCCTAATGTCGGCTGAGAGCCCCACGCCGCGCTCCTGCCAGGAGGGCAGGCAGGGCCCAGAGGATGGAGAGAACACTGCCCAGTGGAGAAGCCAGGAGAACGAGGAGGACGGTGAGGA GGACCCTGACCGCTATGTCTGTAGTGGGGTTCCCGGGCGGCCGCCAGGCCTGGAGGAAGAGCTGACCCTCAAATACGGAGCGAAGCACGTGATCATGCTGTTTGTGCCTGTCACTCTGTG CATGATCGTGGTGGTAGCCACCATCAAGTCTGTGCGCTTCTACACAGAGAAGAATGGACAGCTCATCTACACGCCATTCACTGAGGACACACCCTCGGTGGGCCAGCGCCTCCTCAACTC CGTGCTGAACACCCTCATCATGATCAGCGTCATCGTGGTTATGACCATCTTCTTGGTGGTGCTCTACAAGTACCGCTGCTACAAGTTCATCCATGGCTGGTTGATCATGTCTTCACTGAT GCTGCTGTTCCTCTTCACCTATATCTACCTTGGGGAAGTGCTCAAGACCTACAATGTGGCCATGGACTACCCCACCCTCTTGCTGACTGTCTGGAACTTCGGGGCAGTGGGCATGGTGTG CATCCACTGGAAGGGCCCTCTGGTGCTGCAGCAGGCCTACCTCATCATGATCAGTGCGCTCATGGCCCTAGTGTTCATCAAGTACCTCCCAGAGTGGTCCGCGTGGGTCATCCTGGGCGC CATCTCTGTGTATGATCTCGTGGCTGTGCTGTGTCCCAAAGGGCCTCTGAGAATGCTGGTAGAAACTGCCCAGGAGAGAAATGAGCCCATATTCCCTGCCCTGATATACTCATCTGCCAT GGTGTGGACGGTTGGCATGGCGAAGCTGGACCCCTCCTCTCAGGGTGCCCTCCAGCTCCCCTACGACCCGGAGATGGAAGAAGACTCCTATGACAGTTTTGGGGAGCCTTCATACCCCGA AGTCTTTGAGCCTCCCTTGACTGGCTACCCAGGGGAGGAGCTGGAGGAAGAGGAGGAAAGGGGCGTGAAGCTTGGCCTCGGGGACTTCATCTTCTACAGTGTGCTGGTGGGCAAGGCGGC TGCCACGGGCAGCGGGGACTGGAATACCACGCTGGCCTGCTTCGTGGCCATCCTCATTGGCTTGTGTCTGACCCTCCTGCTGCTTGCTGTGTTCAAGAAGGCGCTGCCCGCCCTCCCCAT CTCCATCACGTTCGGGCTCATCTTTTACTTCTCCACGGACAACCTGGTGCGGCCGTTCATGGACACCCTGGCCTCCCATCAGCTCTACATCTGAGGGACATGGTGTGCCACAGGCTGCAA GCTGCAGGGAATTTTCATTGGATGCAGTTGTATAGTTTTACACTCTAGTGCCATATATTTTTAAGACTTTTCTTTCCTTAAAAAATAAAGTACGTGTTTACTTGGTGAGGAGGAGGCAGA ACCAGCTCTTTGGTGCCAGCTGTTTCATCACCAGACTTTGGCTCCCGCTTTGGGGAGCGCCTCGCTTCACGGACAGGAAGCACAGCAGGTTTATCCAGATGAACTGAGAAGGTCAGATTA GGGCGGGGAGAAGAGCATCCGGCATGAGGGCTGAGATGCGCAAAGAGTGTGCTCGGGAGTGGCCCCTGGCACCTGGGTGCTCTGGCTGGAGAGGAAAAGCCAGTTCCCTACGAGGAGTGT TCCCAATGCTTTGTCCATGATGTCCTTGTTATTTTATTGCCTTTAGAAACTGAGTCCTGTTCTTGTTACGGCAGTCACACTGCTGGGAAGTGGCTTAATAGTAATATCAATAAATAGATG AGTCCTGTTAGAATCTTGAAAA |
Protein Sequence | >5664 : length: 448 MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQENEEDGEEDPDRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMIVVVATIKSVRFYTEKNGQLI YTPFTEDTPSVGQRLLNSVLNTLIMISVIVVMTIFLVVLYKYRCYKFIHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMDYPTLLLTVWNFGAVGMVCIHWKGPLVLQQAYLIMISALMA LVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIFPALIYSSAMVWTVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGEELEEEEERGV KLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIGLCLTLLLLAVFKKALPALPISITFGLIFYFSTDNLVRPFMDTLASHQLYI |