KEGG   Homo sapiens (human): 5664Help
Entry
5664              CDS       T01001                                 

Gene name
PSEN2, AD3L, AD4, CMD1V, PS2, STM2
Definition
presenilin 2 (Alzheimer disease 4)
Orthology
K04522  
presenilin 2 [EC:3.4.23.-]
Organism
hsa  Homo sapiens (human)
Pathway
Notch signaling pathway
Neurotrophin signaling pathway
Alzheimer's disease
Disease
H00056  
Alzheimer's disease (AD)
H00294  
Dilated cardiomyopathy (DCM)
Class
Environmental Information Processing; Signal transduction; Notch signaling pathway [PATH:hsa04330]
Organismal Systems; Nervous system; Neurotrophin signaling pathway [PATH:hsa04722]
Human Diseases; Neurodegenerative diseases; Alzheimer's disease [PATH:hsa05010]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
1q31-q42
AA seq 448 aa AA seqDB search
MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQENEEDGEEDP
DRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMIVVVATIKSVRFYTEKNGQLI
YTPFTEDTPSVGQRLLNSVLNTLIMISVIVVMTIFLVVLYKYRCYKFIHGWLIMSSLMLL
FLFTYIYLGEVLKTYNVAMDYPTLLLTVWNFGAVGMVCIHWKGPLVLQQAYLIMISALMA
LVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIFPALIYSSAMVW
TVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGEELEEEEERGV
KLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIGLCLTLLLLAVFKKALPALPISI
TFGLIFYFSTDNLVRPFMDTLASHQLYI
NT seq 1347 nt NT seq  +upstreamnt  +downstreamnt
atgctcacattcatggcctctgacagcgaggaagaagtgtgtgatgagcggacgtcccta
atgtcggctgagagccccacgccgcgctcctgccaggagggcaggcagggcccagaggat
ggagagaacactgcccagtggagaagccaggagaacgaggaggacggtgaggaggaccct
gaccgctatgtctgtagtggggttcccgggcggccgccaggcctggaggaagagctgacc
ctcaaatacggagcgaagcacgtgatcatgctgtttgtgcctgtcactctgtgcatgatc
gtggtggtagccaccatcaagtctgtgcgcttctacacagagaagaatggacagctcatc
tacacgccattcactgaggacacaccctcggtgggccagcgcctcctcaactccgtgctg
aacaccctcatcatgatcagcgtcatcgtggttatgaccatcttcttggtggtgctctac
aagtaccgctgctacaagttcatccatggctggttgatcatgtcttcactgatgctgctg
ttcctcttcacctatatctaccttggggaagtgctcaagacctacaatgtggccatggac
taccccaccctcttgctgactgtctggaacttcggggcagtgggcatggtgtgcatccac
tggaagggccctctggtgctgcagcaggcctacctcatcatgatcagtgcgctcatggcc
ctagtgttcatcaagtacctcccagagtggtccgcgtgggtcatcctgggcgccatctct
gtgtatgatctcgtggctgtgctgtgtcccaaagggcctctgagaatgctggtagaaact
gcccaggagagaaatgagcccatattccctgccctgatatactcatctgccatggtgtgg
acggttggcatggcgaagctggacccctcctctcagggtgccctccagctcccctacgac
ccggagatggaagaagactcctatgacagttttggggagccttcataccccgaagtcttt
gagcctcccttgactggctacccaggggaggagctggaggaagaggaggaaaggggcgtg
aagcttggcctcggggacttcatcttctacagtgtgctggtgggcaaggcggctgccacg
ggcagcggggactggaataccacgctggcctgcttcgtggccatcctcattggcttgtgt
ctgaccctcctgctgcttgctgtgttcaagaaggcgctgcccgccctccccatctccatc
acgttcgggctcatcttttacttctccacggacaacctggtgcggccgttcatggacacc
ctggcctcccatcagctctacatctga

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