KEGG   Homo sapiens (human): 5664
Entry
5664              CDS       T01001                                 
Symbol
PSEN2, AD3L, AD4, CMD1V, PS2, STM2
Name
(RefSeq) presenilin-2 isoform 1
  KO
K04522  presenilin 2 [EC:3.4.23.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04330  Notch signaling pathway
hsa04519  Cadherin signaling
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)
  09133 Signaling molecules and interaction
   04519 Cadherin signaling
    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)
SSDB
Motif
Pfam: Presenilin DUF6541
Other DBs
NCBI-GeneID: 5664
NCBI-ProteinID: NP_000438
OMIM: 600759
HGNC: 9509
Ensembl: ENSP00000355747.3
UniProt: P49810
Structure
Position
1:226870616..226903668
AA seq 448 aa
MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQENEEDGEEDP
DRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMIVVVATIKSVRFYTEKNGQLI
YTPFTEDTPSVGQRLLNSVLNTLIMISVIVVMTIFLVVLYKYRCYKFIHGWLIMSSLMLL
FLFTYIYLGEVLKTYNVAMDYPTLLLTVWNFGAVGMVCIHWKGPLVLQQAYLIMISALMA
LVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIFPALIYSSAMVW
TVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGEELEEEEERGV
KLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIGLCLTLLLLAVFKKALPALPISI
TFGLIFYFSTDNLVRPFMDTLASHQLYI
NT seq 1347 nt   +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

  All links  
Disease (3)   
   OMIM (3)   
Gene (14)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (13)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (40)   
   RefSeq(nuc) (18)   
   GenBank (11)   
   EMBL (11)   
3D Structure (2)   
   PDB (2)   
Protein domain (2)   
   Pfam (2)   
All databases (74)   

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