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1.A.54.1.2
Presenilin-2 (PS-2; STM-2; E5-2; AD3 LP; AD5 PSN-2) Ca2+ leak channel

Accession Number:P49810
Protein Name:Presenilin-2 aka AD3LP aka AD5
Length:448
Molecular Weight:50140.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:9
Location1 / Topology2 / Orientation3: Endoplasmic reticulum membrane1 / Multi-pass membrane protein2
Substrate Ca2+

Cross database links:

Genevestigator: P49810
eggNOG: prNOG07613
RefSeq: NP_000438.2    NP_036618.2   
Entrez Gene ID: 5664   
Pfam: PF01080   
OMIM: 600759  gene
606889  phenotype
KEGG: hsa:5664   

Gene Ontology

GO:0005789 C:endoplasmic reticulum membrane
GO:0000139 C:Golgi membrane
GO:0005887 C:integral to plasma membrane
GO:0005515 F:protein binding
GO:0042987 P:amyloid precursor protein catabolic process
GO:0006915 P:apoptosis
GO:0008624 P:induction of apoptosis by extracellular sig...
GO:0007242 ?:?
GO:0006509 P:membrane protein ectodomain proteolysis
GO:0031293 P:membrane protein intracellular domain prote...
GO:0007220 P:Notch receptor processing
GO:0043085 P:positive regulation of catalytic activity

References (16)

[1] “Candidate gene for the chromosome 1 familial Alzheimer's disease locus.”  Levy-Lahad E.et.al.   7638622
[2] “Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.”  Rogaev E.I.et.al.   7651536
[3] “Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3.”  Li J.et.al.   8618867
[4] “Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene.”  Levy-Lahad E.et.al.   8661049
[5] “The DNA sequence and biological annotation of human chromosome 1.”  Gregory S.G.et.al.   16710414
[6] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[7] “Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.”  Kovacs D.M.et.al.   8574969
[8] “Interaction of presenilins with the filamin family of actin-binding proteins.”  Zhang W.et.al.   9437013
[9] “A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling.”  Steiner H.et.al.   10497236
[10] “The transmembrane aspartates in presenilin 1 and 2 are obligatory for gamma-secretase activity and amyloid beta-protein generation.”  Kimberly W.T.et.al.   10652302
[11] “Endoplasmic reticulum stress-inducible protein, Herp, enhances presenilin-mediated generation of amyloid beta-protein.”  Sai X.et.al.   11799129
[12] “Presenilin mutations in Alzheimer's disease.”  Cruts M.et.al.   9521418
[13] “Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.”  Gauci S.et.al.   19413330
[14] “Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.”  Cruts M.et.al.   9384602
[15] “A novel mutation in the predicted TM2 domain of the presenilin 2 gene in Spanish patient with late-onset Alzheimer's disease.”  Lao J.I.et.al.   10732806
[16] “High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.”  Finckh U.et.al.   10631141

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MLTFMASDSE EEVCDERTSL MSAESPTPRS CQEGRQGPED GENTAQWRSQ ENEEDGEEDP 
61:	DRYVCSGVPG RPPGLEEELT LKYGAKHVIM LFVPVTLCMI VVVATIKSVR FYTEKNGQLI 
121:	YTPFTEDTPS VGQRLLNSVL NTLIMISVIV VMTIFLVVLY KYRCYKFIHG WLIMSSLMLL 
181:	FLFTYIYLGE VLKTYNVAMD YPTLLLTVWN FGAVGMVCIH WKGPLVLQQA YLIMISALMA 
241:	LVFIKYLPEW SAWVILGAIS VYDLVAVLCP KGPLRMLVET AQERNEPIFP ALIYSSAMVW 
301:	TVGMAKLDPS SQGALQLPYD PEMEEDSYDS FGEPSYPEVF EPPLTGYPGE ELEEEEERGV 
361:	KLGLGDFIFY SVLVGKAAAT GSGDWNTTLA CFVAILIGLC LTLLLLAVFK KALPALPISI 
421:	TFGLIFYFST DNLVRPFMDT LASHQLYI