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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000099904 Accession number: BT006984 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: 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 BT006984.1
CAGE tag ID NA
EST ID NA
Clone Number GH00367X1.0
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 1347[bp] (No. of exon:10)[A:263 T:305 G:388 C:391]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type NA
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; 
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 227069609- 227083278
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 HIP000076623
Predicted CDS 1..1347;  448[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.813
Database links RefSeq NP_000438; 
UniProt P49810; 
CCDS CCDS1556; 

Motif information
ORF

length(448),orf(1:1347) MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQ ENEEDGEEDPDRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMI VVVATIKSVRFYTEKNGQLIYTPFTEDTPSVGQRLLNSVLNTLIMISVIV VMTIFLVVLYKYRCYKFIHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMD YPTLLLTVWNFGAVGMVCIHWKGPLVLQQAYLIMISALMALVFIKYLPEW SAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIFPALIYSSAMVW TVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGE ELEEEEERGVKLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIGLC LTLLLLAVFKKALPALPISITFGLIFYFSTDNLVRPFMDTLASHQLYI* 		a.a.
length		 InterPro Name
length(23), motif(4:26) 23 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(441), motif(8:448) 441 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(299), motif(136:434) 299 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(91), motif(349:439) 91 IPR001108 Peptidase A22A, presenilin [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000099904
H-Inv cluster ID Locus viewHIX0001647
Accession number BT006984.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition 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: Identical to known human protein(Category I).
Identical to known human protein (P49810)  [Identity/coverage = 100.0%/100.0%] 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 HIP000076623
No. of interaction 2
Interaction partner(s) HIP000028058;  HIP000059101; 
BIND 177583;  177584;  177585;  177765;  177778;  177779; 
DIP NA
MINT MINT-13994;  MINT-13995;  MINT-14379;  MINT-14380;  MINT-14945;  MINT-14946;  MINT-14947;  MINT-15560;  MINT-15561;  MINT-15562;  MINT-16270;  MINT-16271;  MINT-16272;  MINT-17115;  MINT-17116;  MINT-17615;  MINT-17616;  MINT-17617; 
HPRD 00100;  00253;  00277;  00286;  00977;  01290;  01680;  01827;  02060;  02497;  02524;  02606;  02607;  02739;  02799;  02920;  03188;  03321;  03457;  03459;  03509;  03800;  04543;  04671;  05198;  05232;  05440;  05584;  05715;  06360;  06361;  06362;  06907;  09063;  09181;  09705;  10216;  10341;  10549;  11517;  12184;  12363;  17469; 
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 2383330;  2383332;  2383333;  2383334;  2383335;  2383336;  2383338;  2383339;  2383341;  2383342;  2383343; 
HuGeneFL L43964_at; 
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
4 .. 4 C/G rs199739625 + CDS Nonsynonymous[Leu2Val]
26 .. 26 G/A rs200878942 + CDS Nonsynonymous[Ser9Asn]
27 .. 27 C/T rs201692678 + CDS Synonymous[Ser9Ser]
49 .. 49 C/T rs199644116 + CDS Nonsynonymous[Arg17Trp]
53 .. 53 C/T rs143061887 + CDS Nonsynonymous[Thr18Met]
54 .. 54 G/A rs201018913 + CDS Synonymous[Thr18Thr]
69 .. 69 C/T rs11405 + CDS Synonymous[Ala23Ala]
79 .. 79 A/G rs147326133 + CDS Nonsynonymous[Thr27Ala]
80 .. 80 C/T rs149354305 + CDS Nonsynonymous[Thr27Met]
81 .. 81 G/A rs144696679 + CDS Synonymous[Thr27Thr]
85 .. 85 C/T rs142892469 + CDS Nonsynonymous[Arg29Cys]
89 .. 89 C/T rs200037771 + CDS Nonsynonymous[Ser30Phe]
100 .. 100 G/A rs200636353 + CDS Nonsynonymous[Gly34Ser]
111 .. 111 C/T rs139309459 + CDS Synonymous[Gly37Gly]
129 .. 129 T/C rs6759 + CDS Synonymous[Asn43Asn]
130 .. 130 A/G rs200535276 + CDS Nonsynonymous[Thr44Ala]
132 .. 132 T/A rs143227762 + CDS Synonymous[Thr44Thr]
149 .. 149 A/G rs143501870 + CDS Nonsynonymous[Gln50Arg]
162 .. 162 G/C rs146894466 + CDS Nonsynonymous[Glu54Asp]
165 .. 165 C/T rs139332886 + CDS Synonymous[Asp55Asp]
166 .. 166 G/A rs188598190 + CDS Nonsynonymous[Gly56Ser]
183 .. 183 C/T rs201261403 + CDS Synonymous[Asp61Asp]
184 .. 184 C/T rs150400387 + CDS Nonsynonymous[Arg62Cys]
185 .. 185 G/A rs58973334 + CDS Nonsynonymous[Arg62His]
192 .. 192 C/T rs201272715 + CDS Synonymous[Val64Val]
205 .. 205 C/G/T rs202133351 + CDS
206 .. 206 C/G rs199968912 + CDS Nonsynonymous[Pro69Arg]
207 .. 207 C/T rs142546082 + CDS Synonymous[Pro69Pro]
208 .. 208 G/A rs139972151 + CDS Nonsynonymous[Gly70Arg]
211 .. 211 C/T rs140501902 + CDS Nonsynonymous[Arg71Trp]
254 .. 254 C/T rs63750048 + CDS Nonsynonymous[Ala85Val]
261 .. 261 T/C rs1046240 + CDS Synonymous[His87His]
279 .. 279 G/C rs200350640 + CDS Synonymous[Val93Val]
294 .. 294 C/T rs146718524 + CDS Synonymous[Cys98Cys]
300 .. 300 C/T rs200801915 + CDS Synonymous[Ile100Ile]
328 .. 328 C/T rs199808788 + CDS Nonsynonymous[Arg110Cys]
336 .. 336 C/T rs200610057 + CDS Synonymous[Tyr112Tyr]
348 .. 348 T/C rs201119121 + CDS Synonymous[Asn116Asn]
364 .. 364 A/C rs63749851 + CDS Nonsynonymous[Thr122Pro]
365 .. 365 C/G rs28936380 + CDS Nonsynonymous[Thr122Arg]
366 .. 366 G/A rs148996705 + CDS Synonymous[Thr122Thr]
389 .. 389 C/T rs63750197 + CDS Nonsynonymous[Ser130Leu]
411 .. 411 C/T rs200924879 + CDS Synonymous[Asn137Asn]
415 .. 415 G/A rs202178897 + CDS Nonsynonymous[Val139Met]
421 .. 421 A/T rs61761208 + CDS Nonsynonymous[Asn141Tyr]
422 .. 422 A/T rs63750215 + CDS Nonsynonymous[Asn141Ile]
423 .. 423 C/T rs116003409 + CDS Synonymous[Asn141Asn]
424 .. 424 A/T rs201590095 + CDS Nonsynonymous[Thr142Ser]
429 .. 429 C/T rs201196514 + CDS Synonymous[Leu143Leu]
439 .. 439 A/G rs201892898 + CDS Nonsynonymous[Ser147Gly]
441 .. 441 C/T rs114334281 + CDS Synonymous[Ser147Ser]
442 .. 442 G/A rs63750812 + CDS Nonsynonymous[Val148Ile]
455 .. 455 T/C rs199654606 + CDS Nonsynonymous[Met152Thr]
460 .. 460 A/G rs139573101 + CDS Nonsynonymous[Ile154Val]
487 .. 487 C/A rs200931244 + CDS Nonsynonymous[Arg163Ser]
520 .. 520 A/G rs61757781 + CDS Nonsynonymous[Met174Val]
537 .. 537 G/A rs201896763 + CDS Synonymous[Leu179Leu]
551 .. 551 C/T rs200210453 + CDS Nonsynonymous[Thr184Ile]
570 .. 570 A/C rs202176021 + CDS Nonsynonymous[Glu190Asp]
584 .. 584 A/G rs200410369 + CDS Nonsynonymous[Tyr195Cys]
588 .. 588 T/C rs144629723 + CDS Synonymous[Asn196Asn]
631 .. 631 T/G rs201671829 + CDS Nonsynonymous[Phe211Val]
633 .. 633 C/T rs199760083 + CDS Synonymous[Phe211Phe]
634 .. 634 G/A rs200173519 + CDS Nonsynonymous[Gly212Arg]
642 .. 642 G/T rs190477948 + CDS Synonymous[Val214Val]
683 .. 683 A/T rs63750880 + CDS Nonsynonymous[Gln228Leu]
690 .. 690 C/G rs145010538 + CDS Synonymous[Ala230Ala]
692 .. 692 A/G rs200754713 + CDS Nonsynonymous[Tyr231Cys]
697 .. 697 A/G rs201908554 + CDS Nonsynonymous[Ile233Val]
708 .. 708 T/C rs61730652 + CDS Synonymous[Ser236Ser]
710 .. 710 C/T rs200670135 + CDS Nonsynonymous[Ala237Val]
711 .. 711 G/A rs202003390 + CDS Synonymous[Ala237Ala]
715 .. 715 A/G rs28936379 + CDS Nonsynonymous[Met239Val]
717 .. 717 G/A rs63749884 + CDS Nonsynonymous[Met239Ile]
725 .. 725 T/C rs200133314 + CDS Nonsynonymous[Val242Ala]
739 .. 739 C/T rs140562931 + CDS Nonsynonymous[Leu247Phe]
744 .. 744 A/G rs145400391 + CDS Synonymous[Pro248Pro]
753 .. 753 C/T rs200332829 + CDS Synonymous[Ser251Ser]
754 .. 754 G/A rs138836272 + CDS Nonsynonymous[Ala252Thr]
755 .. 755 C/T rs201403206 + CDS Nonsynonymous[Ala252Val]
756 .. 756 G/C rs147702142 + CDS Synonymous[Ala252Ala]
763 .. 763 A/T rs201292728 + CDS Nonsynonymous[Ile255Phe]
771 .. 771 C/T rs7539017 + CDS Synonymous[Gly257Gly]
772 .. 772 G/A/T rs148238688 + CDS
781 .. 781 G/C rs201055590 + CDS Nonsynonymous[Val261Leu]
783 .. 783 G/A rs202210060 + CDS Synonymous[Val261Val]
790 .. 790 C/T rs200694973 + CDS Nonsynonymous[Leu264Phe]
792 .. 792 C/G rs77875620 + CDS Synonymous[Leu264Leu]
793 .. 793 G/A rs199707432 + CDS Nonsynonymous[Val265Met]
798 .. 798 T/C rs200644982 + CDS Synonymous[Ala266Ala]
800 .. 800 T/G rs77421307 + CDS Nonsynonymous[Val267Gly]
804 .. 804 G/C rs201606093 + CDS Synonymous[Leu268Leu]
854 .. 854 A/G rs150780392 + CDS Nonsynonymous[Asn285Ser]
861 .. 861 C/T rs75733498 + CDS Synonymous[Pro287Pro]
877 .. 877 A/T rs199689738 + CDS Nonsynonymous[Ile293Leu]
884 .. 884 C/T rs200668817 + CDS Nonsynonymous[Ser295Leu]
902 .. 902 C/T rs144277432 + CDS Nonsynonymous[Thr301Met]
903 .. 903 G/A/T rs6426553 + CDS
914 .. 914 C/T rs200501733 + CDS Nonsynonymous[Ala305Val]
915 .. 915 G/A rs75357954 + CDS Synonymous[Ala305Ala]
927 .. 927 C/T rs200326485 + CDS Synonymous[Pro309Pro]
947 .. 947 A/G rs201778576 + CDS Nonsynonymous[Gln316Arg]
954 .. 954 C/T rs199587016 + CDS Synonymous[Pro318Pro]
958 .. 958 G/A rs141094783 + CDS Nonsynonymous[Asp320Asn]
993 .. 993 T/C/G rs200044441 + CDS
1001 .. 1001 C/G rs63750207 + CDS Nonsynonymous[Pro334Arg]
1015 .. 1015 G/A rs201917728 + CDS Nonsynonymous[Val339Ile]
1023 .. 1023 G/A rs199881176 + CDS Synonymous[Glu341Glu]
1049 .. 1049 A/G rs78420366 + CDS Nonsynonymous[Glu350Gly]
1068 .. 1068 G/A rs200977587 + CDS Synonymous[Glu356Glu]
1092 .. 1092 C/T rs201093218 + CDS Synonymous[Leu364Leu]
1130 .. 1130 C/T rs199714082 + CDS Nonsynonymous[Ala377Val]
1139 .. 1139 C/A rs143912759 + CDS Nonsynonymous[Thr380Lys]
1148 .. 1148 G/A rs145671982 + CDS Nonsynonymous[Gly383Glu]
1149 .. 1149 G/C rs201772526 + CDS Synonymous[Gly383Gly]
1152 .. 1152 C/G rs199550349 + CDS Nonsynonymous[Asp384Glu]
1156 .. 1156 A/C rs149172004 + CDS Nonsynonymous[Asn386His]
1163 .. 1163 C/T rs143549266 + CDS Nonsynonymous[Thr388Met]
1176 .. 1176 C/T rs115652716 + CDS Synonymous[Phe392Phe]
1177 .. 1177 G/A rs142690225 + CDS Nonsynonymous[Val393Met]
1200 .. 1200 T/C rs138494303 + CDS Synonymous[Cys400Cys]
1236 .. 1236 G/A rs201982084 + CDS Synonymous[Ala412Ala]
1240 .. 1240 C/T rs200427880 + CDS Nonsynonymous[Pro414Ser]
1243 .. 1243 G/A rs201494033 + CDS Nonsynonymous[Ala415Thr]
1252 .. 1252 A/G rs199796978 + CDS Nonsynonymous[Ile418Val]
1266 .. 1266 C/T rs200169735 + CDS Synonymous[Phe422Phe]
1284 .. 1284 C/T rs144318314 + CDS Synonymous[Phe428Phe]
1289 .. 1289 C/T rs63750666 + CDS Nonsynonymous[Thr430Met]
1294 .. 1294 A/C rs199676786 + CDS Nonsynonymous[Asn432His]
1303 .. 1303 C/T rs142772982 + CDS Nonsynonymous[Arg435Trp]
1304 .. 1304 G/A rs201922151 + CDS Nonsynonymous[Arg435Gln]
1308 .. 1308 G/A rs199547508 + CDS Synonymous[Pro436Pro]
1312 .. 1312 A/G rs200804459 + CDS Nonsynonymous[Met438Val]
1316 .. 1316 A/C rs63750110 + CDS Nonsynonymous[Asp439Ala]
1317 .. 1317 C/T rs201424233 + CDS Synonymous[Asp439Asp]
1330 .. 1330 C/T rs151048692 + CDS Nonsynonymous[His444Tyr]
 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;