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Genes
PSEN2
Gene - PSEN2
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]