Homo sapiens (human): 5664
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Entry
5664 CDS
T01001
Symbol
PSEN2, AD3L, AD4, CMD1V, PS2, STM2
Name
(RefSeq) presenilin 2
KO
K04522
presenilin 2 [EC:3.4.23.-]
Organism
hsa
Homo sapiens (human)
Pathway
hsa04330
Notch signaling pathway
hsa04722
Neurotrophin signaling pathway
hsa05010
Alzheimer disease
hsa05022
Pathways of neurodegeneration - multiple diseases
Network
nt06460
Alzheimer disease
nt06466
Pathways of neurodegeneration
nt06511
NOTCH signaling
Element
N01007
Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01478
Notch proteolytic activation
Disease
H00056
Alzheimer disease
H00294
Dilated cardiomyopathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09130 Environmental Information Processing
09132 Signal transduction
04330 Notch signaling pathway
5664 (PSEN2)
09150 Organismal Systems
09156 Nervous system
04722 Neurotrophin signaling pathway
5664 (PSEN2)
09160 Human Diseases
09164 Neurodegenerative disease
05010 Alzheimer disease
5664 (PSEN2)
05022 Pathways of neurodegeneration - multiple diseases
5664 (PSEN2)
09180 Brite Hierarchies
09181 Protein families: metabolism
01002 Peptidases and inhibitors [BR:
hsa01002
]
5664 (PSEN2)
Peptidases and inhibitors [BR:
hsa01002
]
Aspartic peptidases
Family A22: presenilin family
5664 (PSEN2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Presenilin
Motif
Other DBs
NCBI-GeneID:
5664
NCBI-ProteinID:
NP_000438
OMIM:
600759
HGNC:
9509
Ensembl:
ENSG00000143801
Pharos:
P49810
(Tchem)
UniProt:
P49810
Structure
PDB
PDBj
LinkDB
All DBs
Position
1:226870616..226903668
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AA seq
448 aa
AA seq
DB search
MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQENEEDGEEDP
DRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMIVVVATIKSVRFYTEKNGQLI
YTPFTEDTPSVGQRLLNSVLNTLIMISVIVVMTIFLVVLYKYRCYKFIHGWLIMSSLMLL
FLFTYIYLGEVLKTYNVAMDYPTLLLTVWNFGAVGMVCIHWKGPLVLQQAYLIMISALMA
LVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIFPALIYSSAMVW
TVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGEELEEEEERGV
KLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIGLCLTLLLLAVFKKALPALPISI
TFGLIFYFSTDNLVRPFMDTLASHQLYI
NT seq
1347 nt
NT seq
+upstream
nt +downstream
nt
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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