Summary for peptidase A22.002: presenilin 2

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Literature Human EST Mouse EST Inhibitors Pharma

 

Names
MEROPS Namepresenilin 2
Other namesPS2, PSEN2 g.p. (Homo sapiens)
Domain architecture
MEROPS Classification
Classification Clan AD >> Subclan (none) >> Family A22 >> Subfamily A >> A22.002
Holotypepresenilin 2 (Homo sapiens), Uniprot accession P49810 (peptidase unit: 22-448), MERNUM MER0005223
History Identifier created: MEROPS 3.30 (20 July 1999)
Activity
Catalytic typeAspartic
NC-IUBMBNot yet included in IUBMB recommendations.
Activity statushuman: active (Kimberly et al., 2002)
mouse: active (Esler et al., 2002)
StructureCatalytic residues in presenilin-1 were investigated by by Wrigley et al. (2004).
KnockoutConditional double knockout mice lacking presenilin 1 and presenilin 2 show impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration (Saura et al., 2004).
Pharmaceutical relevancePresenilin 2 is apparently a component of an Alzheimer"s gamma-secretase that, although less active than the presenilin 1-dependent secretase, may nevertheless make presenilin 2 a drug target (Lai et al., 2003).
Pathways KEGGAlzheimer's disease
KEGGNotch signaling pathway
Other databases WIKIPEDIAhttp://en.wikipedia.org/wiki/Presenilin_2
Human genetics
Gene symbol Locus Megabases Ensembl Entrez gene Gene Cards OMIM
PSEN2 1q31-q42 ENSG00000143801 5664 PSEN2 600759
Mouse genetics
Gene symbol Position Megabases Ensembl Entrez gene MGI
Psen2 1:H4 ENSMUSG00000010609 19165 MGI:109284