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FLASH GENE
Symbol PSEN2 contributors: mct - updated : 13-06-2017
HGNC name presenilin 2 (Alzheimer disease 4)
HGNC id 9509
ASSOCIATED DISORDERS
corresponding disease(s) AD4 , CMD1V
related resource Alzheimer Disease Mutation Database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
in dilated cardiomyopathy, mild form, associated or not to AD
constitutional     --over  
in PS2 level augment the efficacy of Ca2+ transfer from the ER to the mitochondria
Susceptibility to Alzheimer disease, sporadic and familial cases
Variant & Polymorphism other association with a PSEN2 splice variant, lacking exon 5 in Alzheimer disease
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neurologyneurodegenerativealzheimer
an increase in ER–mitochondria tethering may mitigate the energetic defect linked to partial ER Ca2+ depletion caused by PSEN2 mutants, thus contributing to the milder phenotype of Azheimer disease cases linked to PSEN2 mutations
ANIMAL & CELL MODELS