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H-Invitational ID: HIT000219377 Accession number: U34349 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 U34349.1
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 1705[bp] (No. of exon:12)[A:369 T:389 G:488 C:455]
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 Site: 1685(+) Signal: 1662-1666(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) AAGAAG;  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 227063198- 227083798
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 HIP000141877
Predicted CDS 92..1420;  442[aa];  Orientation:+2; 
Codon Adaptation Index (CAI). 0.814

Motif information
ORF

length(442),orf(92:1420)
MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQ
ENEEDGEEDPDRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMI
VVVATIKSVRFYTEKNGQLIYTPFTEDTPSVGQRLLNSVLNTLIMISVIV
VMTIFLVVLYKYRCYKFIHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMD
YPTLLLTVWNFGAVGMVCIHWKGPLVLQQAYLIMISALMALVFIKYLPEW
SAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIFPALIYSSAMVW
TVGMAKLDPSSQGALQLPYDPEMEDSYDSFGEPSYPEVFEPPLTGYPGEE
LEEEEESQGGVKLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIGL
CLTLLLLAVFKKALPALPISITFGLIFYFSTDRKHSRFIQMN*
a.a.
length
InterPro Name
length(23), motif(4:26) 23 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(425), motif(8:432) 425 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(300), motif(136:435) 300 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(326:342) 17 IPR001493 Peptidase A22A, presenilin 2 [Family]
length(87), motif(352:438) 87 IPR001108 Peptidase A22A, presenilin [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000219377
H-Inv cluster ID Locus viewHIX0001647
Accession number U34349.1
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 = 99.767%/96.21%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 76386227651536857496986188678661049938460294370139521418104972361063114110652302107328061179912914702039153855471548933416710414171864611866964820068231ALL
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 AD3LP/AD5
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 HIP000141877
No. of interaction 2
Interaction partner(s) HIP000028058HIP000059101
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; 
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 41349_at; 
HG-U95A 41349_at; 
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;  2383342;  2383345;  2383346;  2459030; 
HuGeneFL L43964_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P103398; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P103398;  A_23_P96985;  A_24_P62521; 
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 ViewerLEGENDALEGENDA

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
35 .. 35 C/T rs201111506 + 5'UTR
49 .. 49 C/T rs7961 + 5'UTR
54 .. 54 C/T rs200982557 + 5'UTR
55 .. 55 G/A rs201820913 + 5'UTR
71 .. 71 G/T rs200034334 + 5'UTR
95 .. 95 C/G rs199739625 + CDS Nonsynonymous[Leu2Val]
117 .. 117 G/A rs200878942 + CDS Nonsynonymous[Ser9Asn]
118 .. 118 C/T rs201692678 + CDS Synonymous[Ser9Ser]
140 .. 140 C/T rs199644116 + CDS Nonsynonymous[Arg17Trp]
144 .. 144 C/T rs143061887 + CDS Nonsynonymous[Thr18Met]
145 .. 145 G/A rs201018913 + CDS Synonymous[Thr18Thr]
160 .. 160 C/T rs11405 + CDS Synonymous[Ala23Ala]
170 .. 170 A/G rs147326133 + CDS Nonsynonymous[Thr27Ala]
171 .. 171 C/T rs149354305 + CDS Nonsynonymous[Thr27Met]
172 .. 172 G/A rs144696679 + CDS Synonymous[Thr27Thr]
176 .. 176 C/T rs142892469 + CDS Nonsynonymous[Arg29Cys]
180 .. 180 C/T rs200037771 + CDS Nonsynonymous[Ser30Phe]
191 .. 191 G/A rs200636353 + CDS Nonsynonymous[Gly34Ser]
202 .. 202 C/T rs139309459 + CDS Synonymous[Gly37Gly]
220 .. 220 C/T rs6759 + CDS Synonymous[Asn43Asn]
221 .. 221 A/G rs200535276 + CDS Nonsynonymous[Thr44Ala]
223 .. 223 T/A rs143227762 + CDS Synonymous[Thr44Thr]
240 .. 240 A/G rs143501870 + CDS Nonsynonymous[Gln50Arg]
253 .. 253 G/C rs146894466 + CDS Nonsynonymous[Glu54Asp]
256 .. 256 C/T rs139332886 + CDS Synonymous[Asp55Asp]
257 .. 257 G/A rs188598190 + CDS Nonsynonymous[Gly56Ser]
274 .. 274 C/T rs201261403 + CDS Synonymous[Asp61Asp]
275 .. 275 C/T rs150400387 + CDS Nonsynonymous[Arg62Cys]
276 .. 276 G/A rs58973334 + CDS Nonsynonymous[Arg62His]
283 .. 283 C/T rs201272715 + CDS Synonymous[Val64Val]
296 .. 296 C/G/T rs202133351 + CDS
297 .. 297 C/G rs199968912 + CDS Nonsynonymous[Pro69Arg]
298 .. 298 C/T rs142546082 + CDS Synonymous[Pro69Pro]
299 .. 299 G/A rs139972151 + CDS Nonsynonymous[Gly70Arg]
302 .. 302 C/T rs140501902 + CDS Nonsynonymous[Arg71Trp]
345 .. 345 C/T rs63750048 + CDS Nonsynonymous[Ala85Val]
352 .. 352 C/T rs1046240 + CDS Synonymous[His87His]
370 .. 370 G/C rs200350640 + CDS Synonymous[Val93Val]
385 .. 385 C/T rs146718524 + CDS Synonymous[Cys98Cys]
391 .. 391 C/T rs200801915 + CDS Synonymous[Ile100Ile]
419 .. 419 C/T rs199808788 + CDS Nonsynonymous[Arg110Cys]
427 .. 427 C/T rs200610057 + CDS Synonymous[Tyr112Tyr]
439 .. 439 T/C rs201119121 + CDS Synonymous[Asn116Asn]
455 .. 455 A/C rs63749851 + CDS Nonsynonymous[Thr122Pro]
456 .. 456 C/G rs28936380 + CDS Nonsynonymous[Thr122Arg]
457 .. 457 G/A rs148996705 + CDS Synonymous[Thr122Thr]
480 .. 480 C/T rs63750197 + CDS Nonsynonymous[Ser130Leu]
502 .. 502 C/T rs200924879 + CDS Synonymous[Asn137Asn]
506 .. 506 G/A rs202178897 + CDS Nonsynonymous[Val139Met]
512 .. 512 A/T rs61761208 + CDS Nonsynonymous[Asn141Tyr]
513 .. 513 A/T rs63750215 + CDS Nonsynonymous[Asn141Ile]
514 .. 514 C/T rs116003409 + CDS Synonymous[Asn141Asn]
515 .. 515 A/T rs201590095 + CDS Nonsynonymous[Thr142Ser]
520 .. 520 C/T rs201196514 + CDS Synonymous[Leu143Leu]
530 .. 530 A/G rs201892898 + CDS Nonsynonymous[Ser147Gly]
532 .. 532 C/T rs114334281 + CDS Synonymous[Ser147Ser]
533 .. 533 G/A rs63750812 + CDS Nonsynonymous[Val148Ile]
546 .. 546 T/C rs199654606 + CDS Nonsynonymous[Met152Thr]
551 .. 551 A/G rs139573101 + CDS Nonsynonymous[Ile154Val]
578 .. 578 C/A rs200931244 + CDS Nonsynonymous[Arg163Ser]
611 .. 611 A/G rs61757781 + CDS Nonsynonymous[Met174Val]
628 .. 628 G/A rs201896763 + CDS Synonymous[Leu179Leu]
642 .. 642 C/T rs200210453 + CDS Nonsynonymous[Thr184Ile]
661 .. 661 A/C rs202176021 + CDS Nonsynonymous[Glu190Asp]
675 .. 675 A/G rs200410369 + CDS Nonsynonymous[Tyr195Cys]
679 .. 679 T/C rs144629723 + CDS Synonymous[Asn196Asn]
722 .. 722 T/G rs201671829 + CDS Nonsynonymous[Phe211Val]
724 .. 724 C/T rs199760083 + CDS Synonymous[Phe211Phe]
725 .. 725 G/A rs200173519 + CDS Nonsynonymous[Gly212Arg]
733 .. 733 G/T rs190477948 + CDS Synonymous[Val214Val]
774 .. 774 A/T rs63750880 + CDS Nonsynonymous[Gln228Leu]
781 .. 781 C/G rs145010538 + CDS Synonymous[Ala230Ala]
783 .. 783 A/G rs200754713 + CDS Nonsynonymous[Tyr231Cys]
788 .. 788 A/G rs201908554 + CDS Nonsynonymous[Ile233Val]
799 .. 799 T/C rs61730652 + CDS Synonymous[Ser236Ser]
801 .. 801 C/T rs200670135 + CDS Nonsynonymous[Ala237Val]
802 .. 802 G/A rs202003390 + CDS Synonymous[Ala237Ala]
806 .. 806 A/G rs28936379 + CDS Nonsynonymous[Met239Val]
808 .. 808 G/A rs63749884 + CDS Nonsynonymous[Met239Ile]
816 .. 816 T/C rs200133314 + CDS Nonsynonymous[Val242Ala]
830 .. 830 C/T rs140562931 + CDS Nonsynonymous[Leu247Phe]
835 .. 835 A/G rs145400391 + CDS Synonymous[Pro248Pro]
844 .. 844 C/T rs200332829 + CDS Synonymous[Ser251Ser]
845 .. 845 G/A rs138836272 + CDS Nonsynonymous[Ala252Thr]
846 .. 846 C/T rs201403206 + CDS Nonsynonymous[Ala252Val]
847 .. 847 G/C rs147702142 + CDS Synonymous[Ala252Ala]
854 .. 854 A/T rs201292728 + CDS Nonsynonymous[Ile255Phe]
862 .. 862 C/T rs7539017 + CDS Synonymous[Gly257Gly]
863 .. 863 G/A/T rs148238688 + CDS
872 .. 872 G/C rs201055590 + CDS Nonsynonymous[Val261Leu]
874 .. 874 G/A rs202210060 + CDS Synonymous[Val261Val]
881 .. 881 C/T rs200694973 + CDS Nonsynonymous[Leu264Phe]
883 .. 883 C/G rs77875620 + CDS Synonymous[Leu264Leu]
884 .. 884 G/A rs199707432 + CDS Nonsynonymous[Val265Met]
889 .. 889 T/C rs200644982 + CDS Synonymous[Ala266Ala]
891 .. 891 T/G rs77421307 + CDS Nonsynonymous[Val267Gly]
895 .. 895 G/C rs201606093 + CDS Synonymous[Leu268Leu]
945 .. 945 A/G rs150780392 + CDS Nonsynonymous[Asn285Ser]
952 .. 952 C/T rs75733498 + CDS Synonymous[Pro287Pro]
968 .. 968 A/T rs199689738 + CDS Nonsynonymous[Ile293Leu]
975 .. 975 C/T rs200668817 + CDS Nonsynonymous[Ser295Leu]
993 .. 993 C/T rs144277432 + CDS Nonsynonymous[Thr301Met]
994 .. 994 G/A/T rs6426553 + CDS
1005 .. 1005 C/T rs200501733 + CDS Nonsynonymous[Ala305Val]
1006 .. 1006 G/A rs75357954 + CDS Synonymous[Ala305Ala]
1018 .. 1018 C/T rs200326485 + CDS Synonymous[Pro309Pro]
1038 .. 1038 A/G rs201778576 + CDS Nonsynonymous[Gln316Arg]
1045 .. 1045 C/T rs199587016 + CDS Synonymous[Pro318Pro]
1049 .. 1049 G/A rs141094783 + CDS Nonsynonymous[Asp320Asn]
1081 .. 1081 T/C/G rs200044441 + CDS
1089 .. 1089 C/G rs63750207 + CDS Nonsynonymous[Pro333Arg]
1103 .. 1103 G/A rs201917728 + CDS Nonsynonymous[Val338Ile]
1111 .. 1111 G/A rs199881176 + CDS Synonymous[Glu340Glu]
1137 .. 1137 A/G rs78420366 + CDS Nonsynonymous[Glu349Gly]
1156 .. 1156 G/A rs200977587 + CDS Synonymous[Glu355Glu]
1186 .. 1186 C/T rs201093218 + CDS Synonymous[Leu365Leu]
1224 .. 1224 C/T rs199714082 + CDS Nonsynonymous[Ala378Val]
1233 .. 1233 C/A rs143912759 + CDS Nonsynonymous[Thr381Lys]
1242 .. 1242 G/A rs145671982 + CDS Nonsynonymous[Gly384Glu]
1243 .. 1243 G/C rs201772526 + CDS Synonymous[Gly384Gly]
1246 .. 1246 C/G rs199550349 + CDS Nonsynonymous[Asp385Glu]
1250 .. 1250 A/C rs149172004 + CDS Nonsynonymous[Asn387His]
1257 .. 1257 C/T rs143549266 + CDS Nonsynonymous[Thr389Met]
1270 .. 1270 C/T rs115652716 + CDS Synonymous[Phe393Phe]
1271 .. 1271 G/A rs142690225 + CDS Nonsynonymous[Val394Met]
1294 .. 1294 T/C rs138494303 + CDS Synonymous[Cys401Cys]
1330 .. 1330 G/A rs201982084 + CDS Synonymous[Ala413Ala]
1334 .. 1334 C/T rs200427880 + CDS Nonsynonymous[Pro415Ser]
1337 .. 1337 G/A rs201494033 + CDS Nonsynonymous[Ala416Thr]
1346 .. 1346 A/G rs199796978 + CDS Nonsynonymous[Ile419Val]
1360 .. 1360 C/T rs200169735 + CDS Synonymous[Phe423Phe]
1378 .. 1378 C/T rs144318314 + CDS Synonymous[Phe429Phe]
1383 .. 1383 C/T rs63750666 + CDS Nonsynonymous[Thr431Met]
1388 .. 1388 A/C rs199676786 + CDS Synonymous[Arg433Arg]
1405 .. 1405 T/C rs200615414 + CDS Synonymous[Phe438Phe]
1437 .. 1437 C/T rs8383 + 3'UTR
1451 .. 1451 T/A rs199645229 + 3'UTR
1454 .. 1454 G/A rs200641411 + 3'UTR
1457 .. 1457 A/T rs201605500 + 3'UTR
1473 .. 1473 G/A rs145129440 + 3'UTR
1479 .. 1479 A/C rs200559114 + 3'UTR
1480 .. 1480 G/A rs201773209 + 3'UTR
1487 .. 1487 C/T rs200161165 + 3'UTR
1509 .. 1509 G/T rs200923178 + 3'UTR
1518 .. 1518 G/A rs202178096 + 3'UTR
1529 .. 1529 A/G rs199949722 + 3'UTR
1543 .. 1543 A/G rs201114015 + 3'UTR
1544 .. 1544 C/T rs202160009 + 3'UTR
1545 .. 1545 G/C rs200173939 + 3'UTR
1559 .. 1559 A/G rs201510179 + 3'UTR
1572 .. 1572 G/T rs116807339 + 3'UTR
1581 .. 1581 G/A rs200536369 + 3'UTR
1608 .. 1608 T/G rs201603449 + 3'UTR
1621 .. 1621 A/T rs199579988 + 3'UTR
1622 .. 1622 C/T rs200568747 + 3'UTR
1633 .. 1633 C/T rs191115973 + 3'UTR
1646 .. 1646 G/T rs201177570 + 3'UTR
1654 .. 1654 C/G rs7962 + 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
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