KEGG   Homo sapiens (human): 55851Help
Entry
55851             CDS       T01001                                 

Gene name
PSENEN, ACNINV2, MDS033, MSTP064, PEN-2, PEN2
Definition
(RefSeq) presenilin enhancer, gamma-secretase subunit
  KO
K06170  presenilin enhancer 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04330  Notch signaling pathway
hsa05010  Alzheimer's disease
Module
hsa_M00682  Notch signaling
Disease
H00681  Acne inversa
Drug target
Avagacestat: D09869
Begacestat: D08869
Semagacestat: D09377
Tarenflurbil: D09010
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04330 Notch signaling pathway
    55851 (PSENEN)
 Human Diseases
  Neurodegenerative diseases
   05010 Alzheimer's disease
    55851 (PSENEN)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PEN-2
Motif
Other DBs
NCBI-GeneID: 55851
NCBI-ProteinID: NP_001268461
OMIM: 607632
HGNC: 30100
Ensembl: ENSG00000205155
Vega: OTTHUMG00000182067
Pharos: Q9NZ42(Tchem)
UniProt: Q9NZ42
Structure
PDB: 

Position
19q13.12
AA seq 101 aa AA seqDB search
MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREAFLVPAYTEQSQIKGYVWRS
AVGFLFWVIVLTSWITIFQIYRPRWGALGDYLSFTIPLGTP
NT seq 306 nt NT seq  +upstreamnt  +downstreamnt
atgaacctggagcgagtgtccaatgaggagaaattgaacctgtgccggaagtactacctg
ggggggtttgctttcctgccttttctctggttggtcaacatcttctggttcttccgagag
gccttccttgtcccagcctacacagaacagagccaaatcaaaggctatgtctggcgctca
gctgtgggcttcctcttctgggtgatagtgctcacctcctggatcaccatcttccagatc
taccggccccgctggggtgcccttggggactacctctccttcaccatacccctgggcacc
ccctga

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