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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000079309 Accession number: AF416718 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Presenilin-2; PS-2; EC=3.4.23.-; AD3LP; AD5; E5-1; STM-2; Contains: Presenilin-2 NTF subunit; Contains: Presenilin-2 CTF subunit;
 
 

Transcript original information
Accession number AF416718.1
CAGE tag ID NA
EST ID NA
Clone Number NA
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (PSEN2) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (PSEN2);
Sequence data provider NA
Annotation project NA
Length of cDNA 1240[bp] (No. of exon:10)[A:252 T:270 G:372 C:346]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type NA
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature C-truncated
Kozak sequence NA
PolyA NA
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) CAGAAG; 
Transcript quality feature Truncation; 
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0001647
Genomic location  G-integra Help Chromosome 1
Location 1q42.13
Position 227063204- 227081807
Strand +
Possible duplicated location(s) NA
Gene structure 10 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5664; 
KEGG GENES KEGG GENES(5664); 
GeneCard GeneCardPSEN2;  *GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra;  cDNA-genome alignmentcDNA-genome alignment; 

Predicted CDS information
HIP ID HIP000076624
Predicted CDS 69..1240;  390[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.814

Motif information
ORF

length(390),orf(69:1240) MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQ ENEEDGEEDPDRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMI VVVATIKSVRFYTEKNGQLIYTTFTEDTPSVGQRLLNSVLNTLIMISVIV VMTIFLVVLYKYRCYKFIHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMD YPTLLLTVWNFGAVGMVCIHWKGPLVLQQAYLIMISALMALVFIKYLPEW SAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIFPALIYLSAMVW TVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGE ELEEEEERGVKLGLGDFIFYSVLVGKAAATGSGDWNTTLA 		a.a.
length		 InterPro Name
length(23), motif(4:26) 23 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(383), motif(8:390) 383 IPR001108 Peptidase A22A, presenilin [Family]
length(12), motif(37:48) 12 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(231), motif(76:306) 231 IPR001108 Peptidase A22A, presenilin [Family]
length(11), motif(92:102) 11 IPR001108 Peptidase A22A, presenilin [Family]
length(255), motif(136:390) 255 IPR006639 Presenilin/signal peptide peptidase [Family]
length(8), motif(246:253) 8 IPR001108 Peptidase A22A, presenilin [Family]
length(18), motif(263:280) 18 IPR001108 Peptidase A22A, presenilin [Family]
length(8), motif(289:296) 8 IPR001108 Peptidase A22A, presenilin [Family]
length(19), motif(306:324) 19 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(17), motif(327:343) 17 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(43), motif(348:390) 43 IPR001108 Peptidase A22A, presenilin [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000079309
H-Inv cluster ID Locus viewHIX0001647
Accession number AF416718.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Similar to Presenilin-2; PS-2; EC=3.4.23.-; AD3LP; AD5; E5-1; STM-2; Contains: Presenilin-2 NTF subunit; Contains: Presenilin-2 CTF subunit;
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (P49810)  [Identity/coverage = 99.487%/87.05%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 7638622;  7651536;  8574969;  8618867;  8661049;  9384602;  9437013;  9521418;  10497236;  10631141;  10652302;  10732806;  11799129;  14702039;  15385547;  15489334;  16710414;  17186461;  18669648;  20068231;  ALL; 
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol PSEN2
HGNC aliases "Alzheimer disease 4"
HGNC name presenilin 2
DDBJ PSEN2
UniProt PSEN2
EC number EC 3.4.23.-Aspartic endopeptidases; 
GGDB
(GlycoGene Database)
 Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000076624
No. of interaction 1
Interaction partner(s) HIP000009056; 
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5664; 
KEGG GENES KEGG GENES(5664); 
GeneCard GeneCardPSEN2;  *GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases; 
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool;  TACTTACT; 
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Molecular function aspartic-type endopeptidase activity (GO:0004190); 
Cellular component integral to membrane (GO:0016021);  membrane (GO:0016020); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT plasma membrane;  endoplasmic;  golgi apparatus; 
Target P Other
SOSUI membrane protein
TMHMM membrane protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator		 AceGene AGhsA010910; 
Affymetrix
GeneChip		 HG-Focus NA
HG-U133 211373_s_at; 
HG-U133A 211373_s_at; 
HG-U133A_2 211373_s_at; 
HG-U133B NA
HG-U133_Plus_2 211373_s_at; 
HG-U95 NA
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 2383326;  2383330;  2383332;  2383333;  2383334;  2383335;  2383336;  2383338;  2383339;  2383341; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 NA
Whole Human Genome Oligo Microarray:PGID247 A_23_P96985; 
Related H-InvDB links H-ANGELH-ANGEL;  DNAProbeLocatorDNAProbeLocator; 

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Alzheimer disease-4 (606889); 
Related information in OMIM OMIM ID:  600759;  Title: PRESENILIN 2
Co-localized orphan diseases NA
Disease related mutation MutationView:  600759; 
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(5664)
Disease Entrez Gene ID:(5664)
Substance Entrez Gene ID:(5664)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo Viewer;  LEGENDALEGENDA; 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
12 .. 12 C/T rs201111506 + 5'UTR
26 .. 26 C/T rs7961 + 5'UTR
31 .. 31 C/T rs200982557 + 5'UTR
32 .. 32 G/A rs201820913 + 5'UTR
48 .. 48 G/T rs200034334 + 5'UTR
72 .. 72 C/G rs199739625 + CDS Nonsynonymous[Leu2Val]
94 .. 94 G/A rs200878942 + CDS Nonsynonymous[Ser9Asn]
95 .. 95 C/T rs201692678 + CDS Synonymous[Ser9Ser]
117 .. 117 C/T rs199644116 + CDS Nonsynonymous[Arg17Trp]
121 .. 121 C/T rs143061887 + CDS Nonsynonymous[Thr18Met]
122 .. 122 G/A rs201018913 + CDS Synonymous[Thr18Thr]
137 .. 137 C/T rs11405 + CDS Synonymous[Ala23Ala]
147 .. 147 A/G rs147326133 + CDS Nonsynonymous[Thr27Ala]
148 .. 148 C/T rs149354305 + CDS Nonsynonymous[Thr27Met]
149 .. 149 G/A rs144696679 + CDS Synonymous[Thr27Thr]
153 .. 153 C/T rs142892469 + CDS Nonsynonymous[Arg29Cys]
157 .. 157 C/T rs200037771 + CDS Nonsynonymous[Ser30Phe]
168 .. 168 G/A rs200636353 + CDS Nonsynonymous[Gly34Ser]
179 .. 179 C/T rs139309459 + CDS Synonymous[Gly37Gly]
197 .. 197 C/T rs6759 + CDS Synonymous[Asn43Asn]
198 .. 198 A/G rs200535276 + CDS Nonsynonymous[Thr44Ala]
200 .. 200 T/A rs143227762 + CDS Synonymous[Thr44Thr]
217 .. 217 A/G rs143501870 + CDS Nonsynonymous[Gln50Arg]
230 .. 230 G/C rs146894466 + CDS Nonsynonymous[Glu54Asp]
233 .. 233 C/T rs139332886 + CDS Synonymous[Asp55Asp]
234 .. 234 G/A rs188598190 + CDS Nonsynonymous[Gly56Ser]
251 .. 251 C/T rs201261403 + CDS Synonymous[Asp61Asp]
252 .. 252 C/T rs150400387 + CDS Nonsynonymous[Arg62Cys]
253 .. 253 G/A rs58973334 + CDS Nonsynonymous[Arg62His]
260 .. 260 C/T rs201272715 + CDS Synonymous[Val64Val]
273 .. 273 C/G/T rs202133351 + CDS
274 .. 274 C/G rs199968912 + CDS Nonsynonymous[Pro69Arg]
275 .. 275 C/T rs142546082 + CDS Synonymous[Pro69Pro]
276 .. 276 G/A rs139972151 + CDS Nonsynonymous[Gly70Arg]
279 .. 279 C/T rs140501902 + CDS Nonsynonymous[Arg71Trp]
322 .. 322 C/T rs63750048 + CDS Nonsynonymous[Ala85Val]
329 .. 329 C/T rs1046240 + CDS Synonymous[His87His]
347 .. 347 G/C rs200350640 + CDS Synonymous[Val93Val]
362 .. 362 C/T rs146718524 + CDS Synonymous[Cys98Cys]
368 .. 368 C/T rs200801915 + CDS Synonymous[Ile100Ile]
396 .. 396 C/T rs199808788 + CDS Nonsynonymous[Arg110Cys]
404 .. 404 C/T rs200610057 + CDS Synonymous[Tyr112Tyr]
416 .. 416 T/C rs201119121 + CDS Synonymous[Asn116Asn]
432 .. 432 A/C rs63749851 + CDS Nonsynonymous[Thr122Pro]
433 .. 433 C/G rs28936380 + CDS Nonsynonymous[Thr122Arg]
434 .. 434 G/A rs148996705 + CDS Synonymous[Thr122Thr]
457 .. 457 C/T rs63750197 + CDS Nonsynonymous[Ser130Leu]
479 .. 479 C/T rs200924879 + CDS Synonymous[Asn137Asn]
483 .. 483 G/A rs202178897 + CDS Nonsynonymous[Val139Met]
489 .. 489 A/T rs61761208 + CDS Nonsynonymous[Asn141Tyr]
490 .. 490 A/T rs63750215 + CDS Nonsynonymous[Asn141Ile]
491 .. 491 C/T rs116003409 + CDS Synonymous[Asn141Asn]
492 .. 492 A/T rs201590095 + CDS Nonsynonymous[Thr142Ser]
497 .. 497 C/T rs201196514 + CDS Synonymous[Leu143Leu]
507 .. 507 A/G rs201892898 + CDS Nonsynonymous[Ser147Gly]
509 .. 509 C/T rs114334281 + CDS Synonymous[Ser147Ser]
510 .. 510 G/A rs63750812 + CDS Nonsynonymous[Val148Ile]
523 .. 523 T/C rs199654606 + CDS Nonsynonymous[Met152Thr]
528 .. 528 A/G rs139573101 + CDS Nonsynonymous[Ile154Val]
555 .. 555 C/A rs200931244 + CDS Nonsynonymous[Arg163Ser]
588 .. 588 A/G rs61757781 + CDS Nonsynonymous[Met174Val]
605 .. 605 G/A rs201896763 + CDS Synonymous[Leu179Leu]
619 .. 619 C/T rs200210453 + CDS Nonsynonymous[Thr184Ile]
638 .. 638 A/C rs202176021 + CDS Nonsynonymous[Glu190Asp]
652 .. 652 A/G rs200410369 + CDS Nonsynonymous[Tyr195Cys]
656 .. 656 T/C rs144629723 + CDS Synonymous[Asn196Asn]
699 .. 699 T/G rs201671829 + CDS Nonsynonymous[Phe211Val]
701 .. 701 C/T rs199760083 + CDS Synonymous[Phe211Phe]
702 .. 702 G/A rs200173519 + CDS Nonsynonymous[Gly212Arg]
710 .. 710 G/T rs190477948 + CDS Synonymous[Val214Val]
751 .. 751 A/T rs63750880 + CDS Nonsynonymous[Gln228Leu]
758 .. 758 C/G rs145010538 + CDS Synonymous[Ala230Ala]
760 .. 760 A/G rs200754713 + CDS Nonsynonymous[Tyr231Cys]
765 .. 765 A/G rs201908554 + CDS Nonsynonymous[Ile233Val]
776 .. 776 T/C rs61730652 + CDS Synonymous[Ser236Ser]
778 .. 778 C/T rs200670135 + CDS Nonsynonymous[Ala237Val]
779 .. 779 G/A rs202003390 + CDS Synonymous[Ala237Ala]
783 .. 783 A/G rs28936379 + CDS Nonsynonymous[Met239Val]
785 .. 785 G/A rs63749884 + CDS Nonsynonymous[Met239Ile]
793 .. 793 T/C rs200133314 + CDS Nonsynonymous[Val242Ala]
807 .. 807 C/T rs140562931 + CDS Nonsynonymous[Leu247Phe]
812 .. 812 A/G rs145400391 + CDS Synonymous[Pro248Pro]
821 .. 821 C/T rs200332829 + CDS Synonymous[Ser251Ser]
822 .. 822 G/A rs138836272 + CDS Nonsynonymous[Ala252Thr]
823 .. 823 C/T rs201403206 + CDS Nonsynonymous[Ala252Val]
824 .. 824 G/C rs147702142 + CDS Synonymous[Ala252Ala]
831 .. 831 A/T rs201292728 + CDS Nonsynonymous[Ile255Phe]
839 .. 839 C/T rs7539017 + CDS Synonymous[Gly257Gly]
840 .. 840 G/A/T rs148238688 + CDS
849 .. 849 G/C rs201055590 + CDS Nonsynonymous[Val261Leu]
851 .. 851 G/A rs202210060 + CDS Synonymous[Val261Val]
858 .. 858 C/T rs200694973 + CDS Nonsynonymous[Leu264Phe]
860 .. 860 C/G rs77875620 + CDS Synonymous[Leu264Leu]
861 .. 861 G/A rs199707432 + CDS Nonsynonymous[Val265Met]
866 .. 866 T/C rs200644982 + CDS Synonymous[Ala266Ala]
868 .. 868 T/G rs77421307 + CDS Nonsynonymous[Val267Gly]
872 .. 872 G/C rs201606093 + CDS Synonymous[Leu268Leu]
922 .. 922 A/G rs150780392 + CDS Nonsynonymous[Asn285Ser]
929 .. 929 C/T rs75733498 + CDS Synonymous[Pro287Pro]
945 .. 945 A/T rs199689738 + CDS Nonsynonymous[Ile293Leu]
952 .. 952 T/C rs200668817 + CDS Nonsynonymous[Leu295Ser]
970 .. 970 C/T rs144277432 + CDS Nonsynonymous[Thr301Met]
971 .. 971 G/A/T rs6426553 + CDS
982 .. 982 C/T rs200501733 + CDS Nonsynonymous[Ala305Val]
983 .. 983 G/A rs75357954 + CDS Synonymous[Ala305Ala]
995 .. 995 C/T rs200326485 + CDS Synonymous[Pro309Pro]
1015 .. 1015 A/G rs201778576 + CDS Nonsynonymous[Gln316Arg]
1022 .. 1022 C/T rs199587016 + CDS Synonymous[Pro318Pro]
1026 .. 1026 G/A rs141094783 + CDS Nonsynonymous[Asp320Asn]
1061 .. 1061 T/C/G rs200044441 + CDS
1069 .. 1069 C/G rs63750207 + CDS Nonsynonymous[Pro334Arg]
1083 .. 1083 G/A rs201917728 + CDS Nonsynonymous[Val339Ile]
1091 .. 1091 G/A rs199881176 + CDS Synonymous[Glu341Glu]
1117 .. 1117 A/G rs78420366 + CDS Nonsynonymous[Glu350Gly]
1136 .. 1136 G/A rs200977587 + CDS Synonymous[Glu356Glu]
1160 .. 1160 C/T rs201093218 + CDS Synonymous[Leu364Leu]
1198 .. 1198 C/T rs199714082 + CDS Nonsynonymous[Ala377Val]
1207 .. 1207 C/A rs143912759 + CDS Nonsynonymous[Thr380Lys]
1216 .. 1216 G/A rs145671982 + CDS Nonsynonymous[Gly383Glu]
1217 .. 1217 G/C rs201772526 + CDS Synonymous[Gly383Gly]
1220 .. 1220 C/G rs199550349 + CDS Nonsynonymous[Asp384Glu]
1224 .. 1224 A/C rs149172004 + CDS Nonsynonymous[Asn386His]
1231 .. 1231 C/T rs143549266 + CDS Nonsynonymous[Thr388Met]
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD); 
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer;