KEGG   Homo sapiens (human): 55851
Entry
55851             CDS       T01001                                 
Symbol
PSENEN, ACNINV2, MDS033, MSTP064, PEN-2, PEN2
Name
(RefSeq) presenilin enhancer, gamma-secretase subunit
  KO
K06170  presenilin enhancer 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04330  Notch signaling pathway
hsa05010  Alzheimer disease
Network
nt06511  NOTCH signaling
  Element
N01478  Notch proteolytic activation
Disease
H00681  Acne inversa
Drug target
Avagacestat: D09869
Begacestat: D08869
Crenigacestat: D11151
Nirogacestat (DG03016): D10960 D11453<US>
Osugacestat: D12235
Semagacestat: D09377
Tarenflurbil: D09010
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04330 Notch signaling pathway
    55851 (PSENEN)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    55851 (PSENEN)
SSDB
Motif
Pfam: PEN-2
Other DBs
NCBI-GeneID: 55851
NCBI-ProteinID: NP_001268461
OMIM: 607632
HGNC: 30100
Ensembl: ENSG00000205155
UniProt: Q9NZ42
Structure
LinkDB
Position
19:35745651..35747519
AA seq 101 aa
MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREAFLVPAYTEQSQIKGYVWRS
AVGFLFWVIVLTSWITIFQIYRPRWGALGDYLSFTIPLGTP
NT seq 306 nt   +upstreamnt  +downstreamnt
atgaacctggagcgagtgtccaatgaggagaaattgaacctgtgccggaagtactacctg
ggggggtttgctttcctgccttttctctggttggtcaacatcttctggttcttccgagag
gccttccttgtcccagcctacacagaacagagccaaatcaaaggctatgtctggcgctca
gctgtgggcttcctcttctgggtgatagtgctcacctcctggatcaccatcttccagatc
taccggccccgctggggtgcccttggggactacctctccttcaccatacccctgggcacc
ccctga

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