full name
presenilin 2

synonyms
AD3L, AD4, CMD1V, PS2, STM2, PSEN2, ENSG00000143801

HGNC
HGNC:9509

Entrez Gene
Gene:5664

ENSEMBL
ENSG00000143801

location
chr: 1
start: 227057885
stop: 227083804
strand: +

OMIM
OMIM:600759: PSEN2 (Autosomal dominant inheritance)
OMIM:606889: Alzheimer disease-4
OMIM:613697: Cardiomyopathy, dilated, 1V

transcripts
NM_000447.2
NM_012486.2

pathways
Activated NOTCH1 Transmits Signal to the Nucleus [NCBI:1269536] [REACTOME:R-HSA-2122948] [PUBMED:15574878] [PUBMED:19726682] [PUBMED:18628966] [PUBMED:9620803] [PUBMED:12530964] [PUBMED:15652348] [PUBMED:18237417] [PUBMED:10882063] [PUBMED:11006133] [PUBMED:18077452] [PUBMED:9462510] [PUBMED:14567914] [PUBMED:17003037] [PUBMED:19524514] [PUBMED:17028573] [PUBMED:10206645] [PUBMED:20418862] [PUBMED:15965470] [PUBMED:16284625] [PUBMED:11226752] [PUBMED:19567869] [PUBMED:12354787] [PUBMED:11740940] [PUBMED:9590294] [PUBMED:15824097] [PUBMED:9244301] [PUBMED:18043734] [PUBMED:9315665] [PUBMED:10879540] [PUBMED:9819428] [PUBMED:8313469] [PUBMED:18296446]
Alzheimer's disease [NCBI:83097] [KEGG:hsa05010] [PUBMED:18782350] [PUBMED:18035450] [PUBMED:15177383] [PUBMED:10527810] [PUBMED:15363492] [PUBMED:16677790] [PUBMED:15295589] [PUBMED:17055782] [PUBMED:15864339] [PUBMED:15750290] [PUBMED:18675468] [PUBMED:15232608] [PUBMED:9848086] [PUBMED:11484003] [PUBMED:10830966] [PUBMED:16529745] [PUBMED:17568632]
Axon guidance [NCBI:83065] [KEGG:hsa04360] [NCBI:1270303] [REACTOME:R-HSA-422475] [PUBMED:14682358] [PUBMED:15084255] [PUBMED:11687826] [PUBMED:15818466] [PUBMED:15363605] [PUBMED:12471249] [PUBMED:15630019] [PUBMED:11891122] [PUBMED:15960985] [PUBMED:12677003]
Cell death signalling via NRAGE, NRIF and NADE [NCBI:1269447] [REACTOME:R-HSA-204998] [PUBMED:12787561]
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants [NCBI:1268891] [REACTOME:R-HSA-2894862] [PUBMED:15472075] [PUBMED:17646408] [PUBMED:17646409] [PUBMED:16738328]
Constitutive Signaling by NOTCH1 PEST Domain Mutants [NCBI:1268889] [REACTOME:R-HSA-2644606] [PUBMED:15472075] [PUBMED:17646408] [PUBMED:17646409]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of signal transduction [NCBI:1268855] [REACTOME:R-HSA-5663202] [PUBMED:12509752]
EPH-Ephrin signaling [NCBI:1270330] [REACTOME:R-HSA-2682334] [PUBMED:18281458] [PUBMED:22120527]
EPH-ephrin mediated repulsion of cells [NCBI:1270334] [REACTOME:R-HSA-3928665] [PUBMED:10958785] [PUBMED:16239146] [PUBMED:12973357] [PUBMED:18713744] [PUBMED:17420126]
LKB1 signaling events [NCBI:137957] [Pathway Interaction Database:lkb1_pathway] [PUBMED:12429843] [PUBMED:18339622] [PUBMED:16912160] [PUBMED:15454081] [PUBMED:19513107] [PUBMED:16959574] [PUBMED:11741830] [PUBMED:7706316] [PUBMED:18063805] [PUBMED:14614828] [PUBMED:16306228] [PUBMED:12489981] [PUBMED:19386264] [PUBMED:18439900] [PUBMED:12805220] [PUBMED:17959818] [PUBMED:16396636] [PUBMED:10542369] [PUBMED:16308421] [PUBMED:15016379] [PUBMED:19622832] [PUBMED:14511394] [PUBMED:14676191] [PUBMED:17482548] [PUBMED:17991864] [PUBMED:11445556] [PUBMED:14651849] [PUBMED:14517248] [PUBMED:14985505] [PUBMED:15261145] [PUBMED:16817901] [PUBMED:9108484] [PUBMED:17573348] [PUBMED:12973359] [PUBMED:19369417] [PUBMED:15705853] [PUBMED:10642527] [PUBMED:16627617] [PUBMED:17482549] [PUBMED:8631898] [PUBMED:14976552]
NOTCH2 Activation and Transmission of Signal to the Nucleus [NCBI:1269539] [REACTOME:R-HSA-2979096] [PUBMED:14567914] [PUBMED:11518718] [PUBMED:10934472] [PUBMED:10206645] [PUBMED:15569487] [PUBMED:10551863] [PUBMED:21632553] [PUBMED:10958687] [PUBMED:20156974] [PUBMED:18469519]
NRIF signals cell death from the nucleus [NCBI:1269449] [REACTOME:R-HSA-205043] [PUBMED:15721744]
Neurotrophin signaling pathway [NCBI:101143] [KEGG:hsa04722] [PUBMED:16699811] [PUBMED:10812966] [PUBMED:12676795] [PUBMED:16939974] [PUBMED:10851172] [PUBMED:15499580] [PUBMED:14704852] [PUBMED:11399424] [PUBMED:10764727] [PUBMED:10985348] [PUBMED:16856873] [PUBMED:11529497]
Notch signaling pathway [NCBI:83062] [KEGG:hsa04330] [NCBI:169345] [Pathway Interaction Database:notch_pathway] [PUBMED:11459941] [PUBMED:12682059] [PUBMED:11825871] [PUBMED:17658278] [PUBMED:15998794] [PUBMED:11101851] [PUBMED:19686683] [PUBMED:18490439] [PUBMED:11150244] [PUBMED:9694793] [PUBMED:10206645] [PUBMED:19704010] [PUBMED:16137758] [PUBMED:15288258] [PUBMED:17392792] [PUBMED:8749394] [PUBMED:15965470] [PUBMED:14566063] [PUBMED:19567869] [PUBMED:11585921] [PUBMED:18676613] [PUBMED:12913000] [PUBMED:10593990] [PUBMED:15274632] [PUBMED:11777909] [PUBMED:12015972] [PUBMED:10028969] [PUBMED:18043734] [PUBMED:17658279] [PUBMED:17575125] [PUBMED:10958687] [PUBMED:15300010] [PUBMED:10882062] [PUBMED:12374742] [PUBMED:11782429] [PUBMED:9653148] [PUBMED:9315665] [PUBMED:8643690] [PUBMED:17114293] [PUBMED:10837024] [PUBMED:15067010] [PUBMED:17296795] [PUBMED:10940313] [PUBMED:18628966] [PUBMED:12826675] [PUBMED:12681948] [PUBMED:16492672] [PUBMED:12551931] [PUBMED:15082708] [PUBMED:12464310] [PUBMED:12794186] [PUBMED:16107360] [PUBMED:19726682] [PUBMED:11486031] [PUBMED:16287852] [PUBMED:12297508] [PUBMED:16061358] [PUBMED:17107962] [PUBMED:9244302] [PUBMED:11425854] [PUBMED:9620803] [PUBMED:15272268] [PUBMED:18417156] [PUBMED:16000382] [PUBMED:11896183] [PUBMED:11604511] [PUBMED:16847353] [PUBMED:11432830] [PUBMED:15652348] [PUBMED:12417415] [PUBMED:14567914] [PUBMED:11006133] [PUBMED:18077452] [PUBMED:16144902] [PUBMED:15288257] [PUBMED:15585829] [PUBMED:12370315] [PUBMED:15288260] [PUBMED:17434929] [PUBMED:12814948] [PUBMED:10882063] [PUBMED:11518718]
Nuclear signaling by ERBB4 [NCBI:1269499] [REACTOME:R-HSA-1251985]
Regulated proteolysis of p75NTR [NCBI:1269459] [REACTOME:R-HSA-193692] [PUBMED:17986144]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by ERBB4 [NCBI:1269496] [REACTOME:R-HSA-1236394] [PUBMED:9275162] [PUBMED:9168115] [PUBMED:17545517] [PUBMED:19193720] [PUBMED:16914727] [PUBMED:7929212] [PUBMED:16912174] [PUBMED:9135143] [PUBMED:10867024] [PUBMED:16778220] [PUBMED:17018285] [PUBMED:15534001] [PUBMED:8665853] [PUBMED:1706616] [PUBMED:10744726] [PUBMED:18653779] [PUBMED:11679632] [PUBMED:8617750] [PUBMED:7565730] [PUBMED:15023535] [PUBMED:16061658] [PUBMED:18721752] [PUBMED:16978839] [PUBMED:17463226] [PUBMED:10722704] [PUBMED:12869563] [PUBMED:19047365] [PUBMED:12807903] [PUBMED:9556621]
Signaling by NOTCH [NCBI:1269530] [REACTOME:R-HSA-157118]
Signaling by NOTCH1 [NCBI:1269535] [REACTOME:R-HSA-1980143] [PUBMED:20972443] [PUBMED:8649374] [PUBMED:11740940] [PUBMED:15965470] [PUBMED:16284625] [PUBMED:9694793] [PUBMED:19567869] [PUBMED:12354787] [PUBMED:11585921] [PUBMED:20418862] [PUBMED:11226752] [PUBMED:9590294] [PUBMED:9315665] [PUBMED:17114293] [PUBMED:18094723] [PUBMED:10964718] [PUBMED:10879540] [PUBMED:8001118] [PUBMED:12050117] [PUBMED:18043734] [PUBMED:9819428] [PUBMED:15824097] [PUBMED:9244301] [PUBMED:16256737] [PUBMED:8687460] [PUBMED:19726682] [PUBMED:8313469] [PUBMED:15574878] [PUBMED:18296446] [PUBMED:16530044] [PUBMED:9620803] [PUBMED:18237417] [PUBMED:7566092] [PUBMED:18628966] [PUBMED:12391150] [PUBMED:12530964] [PUBMED:11006133] [PUBMED:18374649] [PUBMED:15107403] [PUBMED:18077452] [PUBMED:15652348] [PUBMED:15546612] [PUBMED:10882063] [PUBMED:14980219] [PUBMED:10713164] [PUBMED:9462510] [PUBMED:11461910] [PUBMED:14567914] [PUBMED:17003037] [PUBMED:17028573] [PUBMED:11044625] [PUBMED:10206645] [PUBMED:19524514]
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer [NCBI:1268890] [REACTOME:R-HSA-2894858] [PUBMED:15472075]
Signaling by NOTCH1 PEST Domain Mutants in Cancer [NCBI:1268888] [REACTOME:R-HSA-2644602] [PUBMED:17646408] [PUBMED:15472075] [PUBMED:17646409]
Signaling by NOTCH1 in Cancer [NCBI:1268883] [REACTOME:R-HSA-2644603] [PUBMED:17646409] [PUBMED:10367900] [PUBMED:16738328] [PUBMED:15951812] [PUBMED:22399357] [PUBMED:15546612] [PUBMED:11461910] [PUBMED:9118226] [PUBMED:15951813] [PUBMED:17646408] [PUBMED:15472075] [PUBMED:11585921] [PUBMED:17909001] [PUBMED:16612405] [PUBMED:1831692] [PUBMED:15187027]
Signaling by NOTCH2 [NCBI:1269538] [REACTOME:R-HSA-1980145] [PUBMED:20156974] [PUBMED:18724371] [PUBMED:21378989] [PUBMED:11187898] [PUBMED:10958687] [PUBMED:9207788] [PUBMED:803282] [PUBMED:18469519] [PUBMED:20816392] [PUBMED:19379690] [PUBMED:11518718] [PUBMED:14567914] [PUBMED:11986231] [PUBMED:10934472] [PUBMED:11101851] [PUBMED:11866432] [PUBMED:21378985] [PUBMED:10206645] [PUBMED:20816393] [PUBMED:10551863] [PUBMED:9207787] [PUBMED:15569487] [PUBMED:21632553] [PUBMED:21681853] [PUBMED:16773578]
Signaling by NOTCH3 [NCBI:1269541] [REACTOME:R-HSA-1980148]
Signaling by NOTCH4 [NCBI:1269542] [REACTOME:R-HSA-1980150]
Signalling by NGF [NCBI:1269443] [REACTOME:R-HSA-166520]
p75 NTR receptor-mediated signalling [NCBI:1269445] [REACTOME:R-HSA-193704] [PUBMED:16699811] [PUBMED:16939974] [PUBMED:12671646]