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Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000447 Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_000447.2, 156105678
Length 2302 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.
Product presenilin-2 isoform 1
Comment

Summary: Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) encodes the longer isoform (1).

RefSeq NP_000438.2
CDS 428..1774
Misc Feature(1)341..343
Misc Feature(2)491..493
Misc Feature(3)491..493
Misc Feature(4)500..502
Misc Feature(5)653..1744
Misc Feature(6)689..751
Misc Feature(7)842..904
Misc Feature(8)926..988
Misc Feature(9)1028..1090
Misc Feature(10)1097..1159
Misc Feature(11)1175..1237
Misc Feature(12)1511..1573
Misc Feature(13)1592..1654
Misc Feature(14)1667..1675
Exon (1)1..78
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Exon (2)79..221
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Exon (3)222..407
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Exon (4)408..568
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Exon (5)569..783
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Exon (6)784..925
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Exon (7)926..993
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Exon (8)994..1214
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Exon (9)1215..1313
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Exon (10)1314..1397
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Exon (11)1398..1499
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Exon (12)1500..1618
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Exon (13)1619..2298
Gene:PSEN2
Gene Synonym:AD3L; AD4; CMD1V; PS2; STM2
Translation MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQENEEDGEEDP DRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMIVVVATIKSVRFYTEKNGQLI YTPFTEDTPSVGQRLLNSVLNTLIMISVIVVMTIFLVVLYKYRCYKFIHGWLIMSSLMLL FLFTYIYLGEVLKTYNVAMDYPTLLLTVWNFGAVGMVCIHWKGPLVLQQAYLIMISALMA LVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIFPALIYSSAMVW TVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGEELEEEEERGV KLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIGLCLTLLLLAVFKKALPALPISI TFGLIFYFSTDNLVRPFMDTLASHQLYI
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Position Chain Variation Link
28+dbSNP:
28+c, tdbSNP:186308126
72+a, gdbSNP:12758915
90+dbSNP:
90+a, gdbSNP:6665033
93+a, g, tdbSNP:201106517
96+a, gdbSNP:202060347
124+a, tdbSNP:200232829
127+a, gdbSNP:201559176
130+a, gdbSNP:199762553
131+a, cdbSNP:191052430
132+c, tdbSNP:201515227
150+c, tdbSNP:199532840
153+c, tdbSNP:1295645
177+a, gdbSNP:201552337
181+a, gdbSNP:199696668
186+c, tdbSNP:145582210
208+c, tdbSNP:201316014
216+g, tdbSNP:200165480
222+dbSNP:
222+c, tdbSNP:200954447
244+c, tdbSNP:149590162
264+a, gdbSNP:200591275
279+c, tdbSNP:201494032
289+c, tdbSNP:199632838
290+a, gdbSNP:200305467
296+a, gdbSNP:201300501
305+a, gdbSNP:112062360
307+c, tdbSNP:199803697
346+c, tdbSNP:200607063
371+c, tdbSNP:201111506
385+c, tdbSNP:7961
390+c, tdbSNP:200982557
391+a, gdbSNP:201820913
407+g, tdbSNP:200034334
431+c, gdbSNP:199739625
453+a, gdbSNP:200878942
454+c, tdbSNP:201692678
476+c, tdbSNP:199644116
480+c, tdbSNP:143061887
481+a, gdbSNP:201018913
496+c, tdbSNP:11405
506+a, gdbSNP:147326133
507+c, tdbSNP:149354305
508+a, gdbSNP:144696679
512+c, tdbSNP:142892469
516+c, tdbSNP:200037771
527+a, gdbSNP:200636353
538+c, tdbSNP:139309459
556+c, tdbSNP:6759
557+a, gdbSNP:200535276
559+a, tdbSNP:143227762
576+dbSNP:
576+a, gdbSNP:143501870
589+c, gdbSNP:146894466
592+c, tdbSNP:139332886
593+a, gdbSNP:188598190
610+c, tdbSNP:201261403
611+c, tdbSNP:150400387
612+a, gdbSNP:58973334
619+c, tdbSNP:201272715
632+c, g, tdbSNP:202133351
633+c, gdbSNP:199968912
634+c, tdbSNP:142546082
635+a, gdbSNP:139972151
638+c, tdbSNP:140501902
681+c, tdbSNP:63750048
688+c, tdbSNP:1046240
706+c, gdbSNP:200350640
721+c, tdbSNP:146718524
727+c, tdbSNP:200801915
755+c, tdbSNP:199808788
763+c, tdbSNP:200610057
775+c, tdbSNP:201119121
791+dbSNP:
791+a, cdbSNP:63749851
792+c, gdbSNP:28936380
793+a, gdbSNP:148996705
816+c, tdbSNP:63750197
838+c, tdbSNP:200924879
842+a, gdbSNP:202178897
848+a, tdbSNP:61761208
849+a, tdbSNP:63750215
850+c, tdbSNP:116003409
851+a, tdbSNP:201590095
856+c, tdbSNP:201196514
866+a, gdbSNP:201892898
868+c, tdbSNP:114334281
869+a, gdbSNP:63750812
882+c, tdbSNP:199654606
887+a, gdbSNP:139573101
914+a, cdbSNP:200931244
947+dbSNP:
947+a, gdbSNP:61757781
964+a, gdbSNP:201896763
978+c, tdbSNP:200210453
997+dbSNP:
997+a, cdbSNP:202176021
1011+a, gdbSNP:200410369
1015+c, tdbSNP:144629723
1058+g, tdbSNP:201671829
1060+c, tdbSNP:199760083
1061+a, gdbSNP:200173519
1069+g, tdbSNP:190477948
1110+a, tdbSNP:63750880
1117+c, gdbSNP:145010538
1119+a, gdbSNP:200754713
1124+a, gdbSNP:201908554
1135+c, tdbSNP:61730652
1137+c, tdbSNP:200670135
1138+a, gdbSNP:202003390
1142+a, gdbSNP:28936379
1144+a, gdbSNP:63749884
1152+c, tdbSNP:200133314
1166+c, tdbSNP:140562931
1171+a, gdbSNP:145400391
1180+c, tdbSNP:200332829
1181+a, gdbSNP:138836272
1182+c, tdbSNP:201403206
1183+c, gdbSNP:147702142
1190+a, tdbSNP:201292728
1198+c, tdbSNP:7539017
1199+a, g, tdbSNP:148238688
1208+c, gdbSNP:201055590
1210+a, gdbSNP:202210060
1217+dbSNP:
1217+c, tdbSNP:200694973
1219+c, gdbSNP:77875620
1220+a, gdbSNP:199707432
1225+c, tdbSNP:200644982
1227+g, tdbSNP:77421307
1231+c, gdbSNP:201606093
1281+a, gdbSNP:150780392
1288+c, tdbSNP:75733498
1304+a, tdbSNP:199689738
1311+c, tdbSNP:200668817
1329+dbSNP:
1329+c, tdbSNP:144277432
1330+a, g, tdbSNP:6426553
1341+c, tdbSNP:200501733
1342+a, gdbSNP:75357954
1354+c, tdbSNP:200326485
1374+a, gdbSNP:201778576
1381+c, tdbSNP:199587016
1385+a, gdbSNP:141094783
1420+dbSNP:
1420+c, g, tdbSNP:200044441
1428+c, gdbSNP:63750207
1442+a, gdbSNP:201917728
1450+a, gdbSNP:199881176
1476+a, gdbSNP:78420366
1495+a, gdbSNP:200977587
1519+dbSNP:
1519+c, tdbSNP:201093218
1557+c, tdbSNP:199714082
1566+a, cdbSNP:143912759
1575+a, gdbSNP:145671982
1576+c, gdbSNP:201772526
1579+c, gdbSNP:199550349
1583+a, cdbSNP:149172004
1590+c, tdbSNP:143549266
1603+c, tdbSNP:115652716
1604+a, gdbSNP:142690225
1627+dbSNP:
1627+c, tdbSNP:138494303
1663+a, gdbSNP:201982084
1667+c, tdbSNP:200427880
1670+a, gdbSNP:201494033
1679+a, gdbSNP:199796978
1693+c, tdbSNP:200169735
1711+c, tdbSNP:144318314
1716+c, tdbSNP:63750666
1721+a, cdbSNP:199676786
1730+c, tdbSNP:142772982
1731+a, gdbSNP:201922151
1735+a, gdbSNP:199547508
1739+a, gdbSNP:200804459
1743+a, cdbSNP:63750110
1744+c, tdbSNP:201424233
1757+c, tdbSNP:151048692
1777+a, gdbSNP:200164062
1792+a, gdbSNP:200745703
1794+a, gdbSNP:201399057
1818+c, tdbSNP:200016565
1855+a, tdbSNP:200943229
1868+c, tdbSNP:202239448
1894+a, gdbSNP:143059995
1906+c, tdbSNP:186288674
1916+a, gdbSNP:201163703
1962+c, tdbSNP:202067223
1964+a, cdbSNP:200407641
1967+a, c, gdbSNP:201559102
1979+a, gdbSNP:199571588
1984+a, gdbSNP:200296479
1990+c, tdbSNP:201488196
1991+a, gdbSNP:199791100
1991+, gdbSNP:144289421
2012+c, tdbSNP:200615414
2044+c, tdbSNP:8383
2058+a, tdbSNP:199645229
2061+a, gdbSNP:200641411
2064+a, tdbSNP:201605500
2080+a, gdbSNP:145129440
2086+a, cdbSNP:200559114
2087+a, gdbSNP:201773209
2094+c, tdbSNP:200161165
2116+g, tdbSNP:200923178
2125+a, gdbSNP:202178096
2136+a, gdbSNP:199949722
2150+a, gdbSNP:201114015
2151+c, tdbSNP:202160009
2152+c, gdbSNP:200173939
2166+a, gdbSNP:201510179
2179+g, tdbSNP:116807339
2188+a, gdbSNP:200536369
2215+g, tdbSNP:201603449
2228+a, tdbSNP:199579988
2229+c, tdbSNP:200568747
2240+c, tdbSNP:191115973
2253+g, tdbSNP:201177570
2261+c, gdbSNP:7962
2298+a, gdbSNP:200610385
Gene SymbolPSEN2
Gene SynonymAD3L; AD4; CMD1V; PS2; STM2
Chromosome1
Locus Map1q31-q42
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000447 Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA. On-demand $699.00 18
NM_012486 Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 2, mRNA. On-demand $699.00 18
Title Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates Abeta-40 levels to presenilin 2 .
Author Ibrahim-Verbaas,C.A., Zorkoltseva,I.V., Amin,N., Schuur,M., Coppus,A.M., Isaacs,A., Aulchenko,Y.S., Breteler,M.M., Ikram,M.A., Axenovich,T.I., Verbeek,M.M., van Swieten,J.C., Oostra,B.A. and van Duijn,C.M.
Journal Hum. Genet. 131 (12), 1869-1876 (2012)
Title RNAi-mediated inhibition of presenilin 2 inhibits glioma cell growth and invasion and is involved in the regulation of Nrg1/ErbB signaling .
Author Liu,B., Wang,L., Shen,L.L., Shen,M.Z., Guo,X.D., Wang,T., Liang,Q.C., Wang,C., Zheng,J., Li,Y., Jia,L.T., Zhang,H. and Gao,G.D.
Journal Neuro-oncology 14 (8), 994-1006 (2012)
Title Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients .
Author Lohmann,E., Guerreiro,R.J., Erginel-Unaltuna,N., Gurunlian,N., Bilgic,B., Gurvit,H., Hanagasi,H.A., Luu,N., Emre,M. and Singleton,A.
Journal Neurobiol. Aging 33 (8), 1850 (2012)
Title Presenilin-2 polymorphisms and risk of sporadic AD: evidence from a meta-analysis .
Author Chen,C., Zhou,Z., Li,M., Qu,M., Ma,Q., Zhong,M., Zhang,Y. and Yu,Z.
Journal Gene 503 (2), 194-199 (2012)
Title [Familial Alzheimer disease] .
Author Naruse,H., Goto,J. and Tsuji,S.
Journal Nippon Rinsho 69 (SUPPL 10) (PT 2), 246-251 (2011)
Title Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells .
Author Kovacs,D.M., Fausett,H.J., Page,K.J., Kim,T.W., Moir,R.D., Merriam,D.E., Hollister,R.D., Hallmark,O.G., Mancini,R., Felsenstein,K.M., Hyman,B.T., Tanzi,R.E. and Wasco,W.
Journal Nat. Med. 2 (2), 224-229 (1996)
Title Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3 .
Author Li,J., Ma,J. and Potter,H.
Journal Proc. Natl. Acad. Sci. U.S.A. 92 (26), 12180-12184 (1995)
Title Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene .
Author Rogaev,E.I., Sherrington,R., Rogaeva,E.A., Levesque,G., Ikeda,M., Liang,Y., Chi,H., Lin,C., Holman,K., Tsuda,T. et al.
Journal Nature 376 (6543), 775-778 (1995)
Title Candidate gene for the chromosome 1 familial Alzheimer's disease locus .
Author Levy-Lahad,E., Wasco,W., Poorkaj,P., Romano,D.M., Oshima,J., Pettingell,W.H., Yu,C.E., Jondro,P.D., Schmidt,S.D., Wang,K. et al.
Journal Science 269 (5226), 973-977 (1995)
Title A familial Alzheimer's disease locus on chromosome 1 .
Author Levy-Lahad,E., Wijsman,E.M., Nemens,E., Anderson,L., Goddard,K.A., Weber,J.L., Bird,T.D. and Schellenberg,G.D.
Journal Science 269 (5226), 970-973 (1995)


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