Gene Information
Gene NamePSEN2
OrganismHomo sapiens (Human)
Gene Length448
Protein NamesPresenilin-2 (PS-2) (EC 3.4.23.-) (AD3LP) (AD5) (E5-1) (STM-2) [Cleaved into: Presenilin-2 NTF subunit; Presenilin-2 CTF subunit]
Target Namepresenilin 2
Target TypeClinical trial target
Gene Age1488 ( ENSG00000143801 )
Evolutionary StageEukaryota
AlphaFoldDBP49810
Gene CardPSEN2
Uniprot IDP49810
PfamPF01080
In ASDno
Allosteric Predictionyes (0.570146202)
Ortholog in AnimalsAlpaca_ PSEN2 ( ortholog_one2one )
Dog_ PSEN2 ( ortholog_one2one )
GuineaPig_ PSEN2 ( ortholog_one2one )
Macaque_ PSEN2 ( ortholog_one2one )
Mouse_ Psen2 ( ortholog_one2one )
Pig_ PSEN2 ( ortholog_one2one )
Rat_ Psen2 ( ortholog_one2one )
Rabbit_ PSEN2 ( ortholog_one2one )
OhnologsPSEN1
ParalogsPSEN1
TissueNA
Tissue SpecificityIsoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney. {ECO:0000269|PubMed:8574969}.
Pharmacological Animal ModelsNULL(Chimpanzee);NULL(Mouse);0.002101(Rat);NULL(Rabbit)
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB NA 
DBSNP rs58973334  rs140501902  rs63749851  rs28936380  rs63750197  rs63750215  rs61761208  rs63750812  rs63749884  rs28936379 
Subcellular location [CC]Endoplasmic reticulum membrane {ECO:0000269|PubMed:8574969};
Multi-pass membrane protein {ECO:0000269|PubMed:8574969}. Golgi apparatus membrane {ECO:0000269|PubMed:8574969};
Multi-pass membrane protein {ECO:0000269|PubMed:8574969}.
Mouse PG classificationNA
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