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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000495767 Accession number: AK301143 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 AK301143.1
CAGE tag ID NA
EST ID NA
Clone Number SPLEN2018138
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 1541[bp] (No. of exon:12)[A:326 T:348 G:438 C:429]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type spleen
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA NA
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) CAGAAG;  GAGAAG; 
Transcript quality feature NA
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 227058321- 227083298
Strand +
Possible duplicated location(s) NA
Gene structure 12 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 HIP000254624
Predicted CDS 444..1523;  359[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.816

Motif information
ORF

length(359),orf(444:1523) MLFVPVTLCMIVVVATIKSVRFYTEKNGQLIYTPFTEDTPSVGQRLLNSV LNTLIMISVIVVMTIFLVVLYKYRCYKFIHGWLIMSSLMLLFLFTYIYLG EVLKTYNVAMDYPTLLLTVWNFGAVGMVCIHWKGPLVLQQAYLIMISALM ALVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIF PALIYSSAMVWTVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEV FEPPLTGYPGEELEEEEERGVKLGLGDFIFYSVLVGKAAATGSGDWNTTL ACFVAILIGLCLTLLLLAVFKKALPALPISITFGLIFYFSTDNLVRPFMD TLASHQLYI* 		a.a.
length		 InterPro Name
length(359), motif(1:359) 359 IPR001108 Peptidase A22A, presenilin [Family]
length(217), motif(1:217) 217 IPR001108 Peptidase A22A, presenilin [Family]
length(11), motif(3:13) 11 IPR001108 Peptidase A22A, presenilin [Family]
length(299), motif(47:345) 299 IPR006639 Presenilin/signal peptide peptidase [Family]
length(8), motif(157:164) 8 IPR001108 Peptidase A22A, presenilin [Family]
length(18), motif(174:191) 18 IPR001108 Peptidase A22A, presenilin [Family]
length(8), motif(200:207) 8 IPR001108 Peptidase A22A, presenilin [Family]
length(19), motif(217:235) 19 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(17), motif(238:254) 17 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(92), motif(259:350) 92 IPR001108 Peptidase A22A, presenilin [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000495767
H-Inv cluster ID Locus viewHIX0001647
Accession number AK301143.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO;  Splicing isoformSplicing isoform
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 = 100.0%/89.06%] 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 NA
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 HIP000254624
No. of interaction NA
Interaction partner(s) NA
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; 
Target P signal peptide
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.

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
25 .. 25 A/G rs12758915 + 5'UTR
43 .. 43 A/G rs6665033 + 5'UTR
46 .. 46 G/A/T rs201106517 + 5'UTR
49 .. 49 G/A rs202060347 + 5'UTR
77 .. 77 T/A rs200232829 + 5'UTR
80 .. 80 A/G rs201559176 + 5'UTR
83 .. 83 A/G rs199762553 + 5'UTR
84 .. 84 A/C rs191052430 + 5'UTR
85 .. 85 C/T rs201515227 + 5'UTR
103 .. 103 C/T rs199532840 + 5'UTR
106 .. 106 C/T rs1295645 + 5'UTR
130 .. 130 A/G rs201552337 + 5'UTR
134 .. 134 G/A rs199696668 + 5'UTR
139 .. 139 C/T rs145582210 + 5'UTR
161 .. 161 C/T rs201316014 + 5'UTR
169 .. 169 G/T rs200165480 + 5'UTR
175 .. 175 C/T rs200954447 + 5'UTR
197 .. 197 C/T rs149590162 + 5'UTR
217 .. 217 G/A rs200591275 + 5'UTR
232 .. 232 T/C rs201494032 + 5'UTR
242 .. 242 C/T rs199632838 + 5'UTR
243 .. 243 G/A rs200305467 + 5'UTR
249 .. 249 A/G rs201300501 + 5'UTR
258 .. 258 G/A rs112062360 + 5'UTR
260 .. 260 T/C rs199803697 + 5'UTR
299 .. 299 T/C rs200607063 + 5'UTR
325 .. 325 A/G rs143501870 + 5'UTR
338 .. 338 G/C rs146894466 + 5'UTR
341 .. 341 C/T rs139332886 + 5'UTR
342 .. 342 G/A rs188598190 + 5'UTR
359 .. 359 C/T rs201261403 + 5'UTR
360 .. 360 C/T rs150400387 + 5'UTR
361 .. 361 G/A rs58973334 + 5'UTR
368 .. 368 C/T rs201272715 + 5'UTR
381 .. 381 C/G/T rs202133351 + 5'UTR
382 .. 382 C/G rs199968912 + 5'UTR
383 .. 383 C/T rs142546082 + 5'UTR
384 .. 384 G/A rs139972151 + 5'UTR
387 .. 387 C/T rs140501902 + 5'UTR
430 .. 430 C/T rs63750048 + 5'UTR
437 .. 437 T/C rs1046240 + 5'UTR
455 .. 455 G/C rs200350640 + CDS Synonymous[Val4Val]
470 .. 470 C/T rs146718524 + CDS Synonymous[Cys9Cys]
476 .. 476 C/T rs200801915 + CDS Synonymous[Ile11Ile]
504 .. 504 C/T rs199808788 + CDS Nonsynonymous[Arg21Cys]
512 .. 512 C/T rs200610057 + CDS Synonymous[Tyr23Tyr]
524 .. 524 T/C rs201119121 + CDS Synonymous[Asn27Asn]
540 .. 540 A/C rs63749851 + CDS Nonsynonymous[Thr33Pro]
541 .. 541 C/G rs28936380 + CDS Nonsynonymous[Thr33Arg]
542 .. 542 G/A rs148996705 + CDS Synonymous[Thr33Thr]
565 .. 565 C/T rs63750197 + CDS Nonsynonymous[Ser41Leu]
587 .. 587 C/T rs200924879 + CDS Synonymous[Asn48Asn]
591 .. 591 G/A rs202178897 + CDS Nonsynonymous[Val50Met]
597 .. 597 A/T rs61761208 + CDS Nonsynonymous[Asn52Tyr]
598 .. 598 A/T rs63750215 + CDS Nonsynonymous[Asn52Ile]
599 .. 599 C/T rs116003409 + CDS Synonymous[Asn52Asn]
600 .. 600 A/T rs201590095 + CDS Nonsynonymous[Thr53Ser]
605 .. 605 C/T rs201196514 + CDS Synonymous[Leu54Leu]
615 .. 615 A/G rs201892898 + CDS Nonsynonymous[Ser58Gly]
617 .. 617 C/T rs114334281 + CDS Synonymous[Ser58Ser]
618 .. 618 G/A rs63750812 + CDS Nonsynonymous[Val59Ile]
631 .. 631 T/C rs199654606 + CDS Nonsynonymous[Met63Thr]
636 .. 636 A/G rs139573101 + CDS Nonsynonymous[Ile65Val]
663 .. 663 C/A rs200931244 + CDS Nonsynonymous[Arg74Ser]
696 .. 696 A/G rs61757781 + CDS Nonsynonymous[Met85Val]
713 .. 713 G/A rs201896763 + CDS Synonymous[Leu90Leu]
727 .. 727 C/T rs200210453 + CDS Nonsynonymous[Thr95Ile]
746 .. 746 A/C rs202176021 + CDS Nonsynonymous[Glu101Asp]
760 .. 760 A/G rs200410369 + CDS Nonsynonymous[Tyr106Cys]
764 .. 764 T/C rs144629723 + CDS Synonymous[Asn107Asn]
807 .. 807 T/G rs201671829 + CDS Nonsynonymous[Phe122Val]
809 .. 809 C/T rs199760083 + CDS Synonymous[Phe122Phe]
810 .. 810 G/A rs200173519 + CDS Nonsynonymous[Gly123Arg]
818 .. 818 G/T rs190477948 + CDS Synonymous[Val125Val]
859 .. 859 A/T rs63750880 + CDS Nonsynonymous[Gln139Leu]
866 .. 866 C/G rs145010538 + CDS Synonymous[Ala141Ala]
868 .. 868 A/G rs200754713 + CDS Nonsynonymous[Tyr142Cys]
873 .. 873 A/G rs201908554 + CDS Nonsynonymous[Ile144Val]
884 .. 884 T/C rs61730652 + CDS Synonymous[Ser147Ser]
886 .. 886 C/T rs200670135 + CDS Nonsynonymous[Ala148Val]
887 .. 887 G/A rs202003390 + CDS Synonymous[Ala148Ala]
891 .. 891 A/G rs28936379 + CDS Nonsynonymous[Met150Val]
893 .. 893 G/A rs63749884 + CDS Nonsynonymous[Met150Ile]
901 .. 901 T/C rs200133314 + CDS Nonsynonymous[Val153Ala]
915 .. 915 C/T rs140562931 + CDS Nonsynonymous[Leu158Phe]
920 .. 920 A/G rs145400391 + CDS Synonymous[Pro159Pro]
929 .. 929 C/T rs200332829 + CDS Synonymous[Ser162Ser]
930 .. 930 G/A rs138836272 + CDS Nonsynonymous[Ala163Thr]
931 .. 931 C/T rs201403206 + CDS Nonsynonymous[Ala163Val]
932 .. 932 G/C rs147702142 + CDS Synonymous[Ala163Ala]
939 .. 939 A/T rs201292728 + CDS Nonsynonymous[Ile166Phe]
947 .. 947 C/T rs7539017 + CDS Synonymous[Gly168Gly]
948 .. 948 G/A/T rs148238688 + CDS
957 .. 957 G/C rs201055590 + CDS Nonsynonymous[Val172Leu]
959 .. 959 G/A rs202210060 + CDS Synonymous[Val172Val]
966 .. 966 C/T rs200694973 + CDS Nonsynonymous[Leu175Phe]
968 .. 968 C/G rs77875620 + CDS Synonymous[Leu175Leu]
969 .. 969 G/A rs199707432 + CDS Nonsynonymous[Val176Met]
974 .. 974 T/C rs200644982 + CDS Synonymous[Ala177Ala]
976 .. 976 T/G rs77421307 + CDS Nonsynonymous[Val178Gly]
980 .. 980 G/C rs201606093 + CDS Synonymous[Leu179Leu]
1030 .. 1030 A/G rs150780392 + CDS Nonsynonymous[Asn196Ser]
1037 .. 1037 C/T rs75733498 + CDS Synonymous[Pro198Pro]
1053 .. 1053 A/T rs199689738 + CDS Nonsynonymous[Ile204Leu]
1060 .. 1060 C/T rs200668817 + CDS Nonsynonymous[Ser206Leu]
1078 .. 1078 C/T rs144277432 + CDS Nonsynonymous[Thr212Met]
1079 .. 1079 G/A/T rs6426553 + CDS
1090 .. 1090 C/T rs200501733 + CDS Nonsynonymous[Ala216Val]
1091 .. 1091 G/A rs75357954 + CDS Synonymous[Ala216Ala]
1103 .. 1103 C/T rs200326485 + CDS Synonymous[Pro220Pro]
1123 .. 1123 A/G rs201778576 + CDS Nonsynonymous[Gln227Arg]
1130 .. 1130 C/T rs199587016 + CDS Synonymous[Pro229Pro]
1134 .. 1134 G/A rs141094783 + CDS Nonsynonymous[Asp231Asn]
1169 .. 1169 T/C/G rs200044441 + CDS
1177 .. 1177 C/G rs63750207 + CDS Nonsynonymous[Pro245Arg]
1191 .. 1191 G/A rs201917728 + CDS Nonsynonymous[Val250Ile]
1199 .. 1199 G/A rs199881176 + CDS Synonymous[Glu252Glu]
1225 .. 1225 A/G rs78420366 + CDS Nonsynonymous[Glu261Gly]
1244 .. 1244 G/A rs200977587 + CDS Synonymous[Glu267Glu]
1268 .. 1268 C/T rs201093218 + CDS Synonymous[Leu275Leu]
1306 .. 1306 C/T rs199714082 + CDS Nonsynonymous[Ala288Val]
1315 .. 1315 C/A rs143912759 + CDS Nonsynonymous[Thr291Lys]
1324 .. 1324 G/A rs145671982 + CDS Nonsynonymous[Gly294Glu]
1325 .. 1325 G/C rs201772526 + CDS Synonymous[Gly294Gly]
1328 .. 1328 C/G rs199550349 + CDS Nonsynonymous[Asp295Glu]
1332 .. 1332 A/C rs149172004 + CDS Nonsynonymous[Asn297His]
1339 .. 1339 C/T rs143549266 + CDS Nonsynonymous[Thr299Met]
1352 .. 1352 C/T rs115652716 + CDS Synonymous[Phe303Phe]
1353 .. 1353 G/A rs142690225 + CDS Nonsynonymous[Val304Met]
1376 .. 1376 T/C rs138494303 + CDS Synonymous[Cys311Cys]
1412 .. 1412 G/A rs201982084 + CDS Synonymous[Ala323Ala]
1416 .. 1416 C/T rs200427880 + CDS Nonsynonymous[Pro325Ser]
1419 .. 1419 G/A rs201494033 + CDS Nonsynonymous[Ala326Thr]
1428 .. 1428 A/G rs199796978 + CDS Nonsynonymous[Ile329Val]
1442 .. 1442 C/T rs200169735 + CDS Synonymous[Phe333Phe]
1460 .. 1460 C/T rs144318314 + CDS Synonymous[Phe339Phe]
1465 .. 1465 C/T rs63750666 + CDS Nonsynonymous[Thr341Met]
1470 .. 1470 A/C rs199676786 + CDS Nonsynonymous[Asn343His]
1479 .. 1479 C/T rs142772982 + CDS Nonsynonymous[Arg346Trp]
1480 .. 1480 G/A rs201922151 + CDS Nonsynonymous[Arg346Gln]
1484 .. 1484 G/A rs199547508 + CDS Synonymous[Pro347Pro]
1488 .. 1488 A/G rs200804459 + CDS Nonsynonymous[Met349Val]
1492 .. 1492 A/C rs63750110 + CDS Nonsynonymous[Asp350Ala]
1493 .. 1493 C/T rs201424233 + CDS Synonymous[Asp350Asp]
1506 .. 1506 C/T rs151048692 + CDS Nonsynonymous[His355Tyr]
1526 .. 1526 G/A rs200164062 + 3'UTR
1541 .. 1541 A/G rs200745703 + 3'UTR
 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
Type Start End Strand
MIR3 73 178 -
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD); 
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer;