Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PSEN2 contributors: mct - updated : 03-11-2010
HGNC name presenilin 2 (Alzheimer disease 4)
HGNC id 9509
Corresponding disease
AD4 Alzheimer disease 4
CMD1V cardiomyopathy, dilated, 1V
Location 1q42.12      Physical location : 227.058.272 - 227.083.804
Synonym name presenilin-2
Synonym symbol(s) AD3LP, PS2, STM2, AD3L, E5-1, PSNL2
EC.number 3.4.23.-
DNA
TYPE functioning gene
STRUCTURE 26.49 kb     11 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map cen - D1S271E - PSEN2 - D1S644 - D1S2415 - qter
Physical map
SRP9 1q42.13 signal recognition particle 9kDa LEFTY3 1q42.1 LEFTY family pseudogene EPHX1 1q42.1 epoxide hydrolase 1, microsomal (xenobiotic) KIAA0792 1q42.13 epoxide hydrolase 1, microsomal (xenobiotic) LEFTB 1q42.1 left-right determination, factor B P5CR2 1q42.13 pyrroline 5-carboxylate reductase isoform EBAF 1q42.1 endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily) FLJ35382 1q42.13 hypothetical protein FLJ35382 H3F3A 1q41 H3 histone, family 3A ACBD3 1q42.13 acyl-Coenzyme A binding domain containing 3 MIXL1 1q41 Mix1 homeobox-like 1 (Xenopus laevis) TGS 1q42.13 TUDOR gene similar ADPRT 1q42 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) LOC391168 1 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC391169 1 similar to hypothetical protein D11Ertd497e LOC388748 1 LOC388748 LOC388749 1 LOC388749 ITPKB 1q41-q42 inositol 1,4,5-trisphosphate 3-kinase B LOC391170 1 similar to hypothetical protein PSEN2 1q42.1 presenilin 2 (Alzheimer disease 4) CABC1 1q42.11 chaperone, ABC1 activity of bc1 complex like (S. pombe) CDC42BPA 1q42.11 CDC42 binding protein kinase alpha (DMPK-like) LOC343363 1q42.13 similar to basic transcription factor 3 LOC391171 1 similar to beta-tubulin 4Q LOC255208 1q42.13 HSA1q42.3 beta-tubulin 4Q pseudogene MGC42493 1q42.13 hypothetical protein MGC42493 MRP63P2 1q42.13 mitochondrial ribosomal protein 63 pseudogene 2 MGC15634 1q42.13 hypothetical protein MGC15634 FLJ12517 1q42.13 hypothetical protein FLJ12517 IMAGE3451454 1q42.13 SVAP1 protein MPN2 1q42.13 marapsin 2 WNT9A 1q42 wingless-type MMTV integration site family, member 9A LOC340346 1q42.13 hypothetical gene supported by AK093729; AK096776; AL117642 LOC391173 1 similar to capicua homolog WNT3A 1q42 wingless-type MMTV integration site family, member 3A DKFZp434C0923 1q42.13 hypothetical protein DKFZp434C0923 ARF1 1q42 ADP-ribosylation factor 1 C1orf35 1q42.13 chromosome 1 open reading frame 35 MRPL55 1p36.3 mitochondrial ribosomal protein L55 LOC391174 1 similar to hypothetical protein FLJ22875
RNA
TRANSCRIPTS type messenger
text alternatively spliced, lacking exon 5, a third transcript of 2.8kb (PMID: 7638621)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 2299 50 447 heart, brain, placenta, liver, skeletal muscle, kidney 1998 9602061
lacks 3 nucleotides when compared to transcript variant 1 due to the use of an alternative splice acceptor sequence in exon 10
13 - 2302 50.1 448 - 1998 9602061
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Endocrinepancreas    
 parathyroid   highly
Lymphoid/Immunespleen   highly
Nervousbrain    
Reproductivemale systemprostate  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscularstriatumcardiac  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • eight transmembrane segments (8TM) with cytoplasmic N (NTF) and C terminal,(CTF) fragments
  • a large cytoplasmic hydrophilic loop between transmembrane segments 6 and 7
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to C.elegans SPE-4
    intraspecies homolog to PSEN1 (highly)
    Homologene
    FAMILY
  • presenilin family
  • CATEGORY signaling , receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,chromatin/chromosome
    intracellular,nuclear envelope
    text
  • integral membrane protein
  • expressed in mitochondria-associated membranes (MAM) - a specialized subcompartment of the endoplasmic reticulum (ER) involved in lipid metabolism and calcium homeostasis that physically connects ER to mitochondria
  • basic FUNCTION
  • interacting with Rab11 and maybe involved in APP vesicular trafficking to the right compartment for activity, as well as processing of APP molecules (potential gamma secretase activity)
  • regulator of intracellular calcium homeostasis, controlling the alpha secretase derived product APP alpha
  • essential components of the gamma-secretase complex, which cleaves APP to affect Abeta processing
  • play a key role in the control of Ca2+ concentration within the endoplasmic reticulum (ER)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    gamma-secretase-dependent signaling pathway
    a component
  • forming a multimeric complex with catenin beta (CTNNB1)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FHL2
  • sorcin
  • inhibitors of gamma secretase (to block amyloid beta protein)
  • forming a stable complex with beta-amyloid precursor protein
  • cell & other
    REGULATION
    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