Entity Details

Primary name PSN2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP49810
EntryNamePSN2_HUMAN
FullNamePresenilin-2
TaxID9606
Evidenceevidence at protein level
Length448
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesPSEN2

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0000776 kinetochore
GO:0004175 endopeptidase activity
GO:0005634 nucleus
GO:0005637 nuclear inner membrane
GO:0005743 mitochondrial inner membrane
GO:0005765 lysosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005938 cell cortex
GO:0006509 membrane protein ectodomain proteolysis
GO:0006816 calcium ion transport
GO:0007220 Notch receptor processing
GO:0009986 cell surface
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0016485 protein processing
GO:0030018 Z disc
GO:0030426 growth cone
GO:0031293 membrane protein intracellular domain proteolysis
GO:0031594 neuromuscular junction
GO:0032991 protein-containing complex
GO:0034205 amyloid-beta formation
GO:0035253 ciliary rootlet
GO:0035333 Notch receptor processing, ligand-dependent
GO:0035556 intracellular signal transduction
GO:0042500 aspartic endopeptidase activity, intramembrane cleaving
GO:0042987 amyloid precursor protein catabolic process
GO:0043025 neuronal cell body
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:0043198 dendritic shaft
GO:0045121 membrane raft
GO:0048013 ephrin receptor signaling pathway
GO:0048471 perinuclear region of cytoplasm
GO:0050435 amyloid-beta metabolic process
GO:0070765 gamma-secretase complex
GO:0110097 regulation of calcium import into the mitochondrion
GO:1990456 mitochondrion-endoplasmic reticulum membrane tethering

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR001108 Peptidase A22A, presenilinFamilyFamily
IPR001493 Peptidase A22A, presenilin 2FamilyFamily
IPR006639 Presenilin/signal peptide peptidaseFamilyFamily
IPR042524 Presenilin, C-terminalFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613697 OMIMCardiomyopathy, dilated 1V (CMD1V)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.
606889 OMIMAlzheimer disease 4 (AD4)A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. The disease is caused by variants affecting the gene represented in this entry.

Interactions

99 interactions

InteractorPartnerSourcesPublicationsLink
PSN2_HUMANFHL2_HUMANBioGRID, HPRD, MINT11001931 details
PSN2_HUMANFLNB_HUMANBioGRID, HPRD, MINT9437013 details
PSN2_HUMANFLNA_HUMANHPRD, MINT9437013 details
PSN2_HUMANB2CL1_HUMANBioGRID, HPRD, MINT10446169 details
PSN2_HUMANSORCN_HUMANBioGRID, HPRD, MINT10748169 details
PSN2_HUMANUBQL1_HUMANBioGRID, HPRD, MINT11076969 16813565 17614368 details
PSN2_HUMANCIB1_HUMANBioGRID, HPRD, MINT10366599 details
PSN2_HUMANA4_HUMANBioGRID, HPRD, IntAct10078972 21163940 32814053 9223340 details
PSN2_HUMANECSIT_HUMANBioGRID, IntAct21163940 details
PSN2_HUMANPDCD4_HUMANBioGRID, IntAct21163940 details
PSN2_HUMANDYHC1_HUMANBioGRID, IntAct21163940 details
PSN2_HUMANEID1_HUMANBioGRID, IntAct21163940 details
PSN2_HUMANMAST1_HUMANBioGRID, IntAct21163940 details
PSN2_HUMANPSN1_HUMANBioGRID, IntAct12471034 15474363 21163940 details
PSN2_HUMANRNF32_HUMANBioGRID, IntAct21163940 details
PSN2_HUMANLIPG_HUMANBioGRID, IntAct21163940 details
PSN2_HUMANDNJB1_HUMANBioGRID, IntAct21163940 details
PSN2_HUMANEXOC6_HUMANBioGRID, IntAct21163940 details
PSN2_HUMANFXL12_HUMANBioGRID, IntAct21163940 details
PSN2_HUMANRHEB_HUMANBioGRID, IntAct21163940 details
PSN2_HUMANDMB_HUMANBioGRID, IntAct29997244 details
PSN2_HUMANNEBL_HUMANIntAct32814053 details
PSN2_HUMANPDZ1I_HUMANIntAct32814053 details
PSN2_HUMANMICA2_HUMANIntAct32814053 details
PSN2_HUMANSOX14_HUMANIntAct32814053 details
PSN2_HUMANH31_HUMANIntAct32814053 details
PSN2_HUMANS6A13_HUMANIntAct32814053 details
PSN2_HUMANRING2_HUMANIntAct32814053 details
PSN2_HUMANP85A_HUMANIntAct32814053 details
PSN2_HUMANMNDA_HUMANIntAct32814053 details
PSN2_HUMANFRIL_HUMANIntAct32814053 details
PSN2_HUMANCASP1_HUMANHPRD, IntAct10069390 32814053 9219695 9990034 details
PSN2_HUMANBAK_HUMANIntAct32814053 details
PSN2_HUMANKAD2_HUMANIntAct32814053 details
PSN2_HUMANUBAC1_HUMANIntAct32814053 details
PSN2_HUMANELL2_HUMANIntAct32814053 details
PSN2_HUMANRYBP_HUMANIntAct32814053 details
PSN2_HUMANSP6_HUMANIntAct32814053 details
PSN2_HUMANWDR61_HUMANIntAct32814053 details
PSN2_HUMANFX4L6_HUMANIntAct32814053 details
PSN2_HUMANARL16_HUMANIntAct32814053 details
PSN2_HUMANZSCA1_HUMANIntAct32814053 details
PSN2_HUMANZN366_HUMANIntAct32814053 details
PSN2_HUMANZMAT2_HUMANIntAct32814053 details
PSN2_HUMANSGSM1_HUMANIntAct32814053 details
PSN2_HUMANMR1L1_HUMANIntAct32814053 details
PSN2_HUMANHNRLL_HUMANIntAct32814053 details
PSN2_HUMANHUMMR_HUMANIntAct32814053 details
PSN2_HUMANZXDC_HUMANIntAct32814053 details
PSN2_HUMANCAN1_HUMANBioGRID, HPRD10677567 9852298 details
PSN2_HUMANCSEN_HUMANBioGRID, HPRD11278424 9771752 details
PSN2_HUMANGFAP_HUMANBioGRID12058025 details
PSN2_HUMANICAM5_HUMANBioGRID, HPRD11719200 details
PSN2_HUMANKCIP4_HUMANBioGRID, HPRD11847232 details
PSN2_HUMANNOS3_HUMANBioGRID21163940 details
PSN2_HUMANCEP55_HUMANBioGRID21163940 details
PSN2_HUMANELAV1_HUMANBioGRID21163940 details
PSN2_HUMANEVI5L_HUMANBioGRID21163940 details
PSN2_HUMANGCDH_HUMANBioGRID21163940 details
PSN2_HUMANIFIT3_HUMANBioGRID21163940 details
PSN2_HUMANIFIT5_HUMANBioGRID21163940 details
PSN2_HUMANOGA_HUMANBioGRID21163940 details
PSN2_HUMANSPC24_HUMANBioGRID21163940 details
PSN2_HUMANAAMP_HUMANBioGRID21163940 details
PSN2_HUMANACTG_HUMANBioGRID21163940 details
PSN2_HUMANCHKA_HUMANBioGRID21163940 details
PSN2_HUMANECD_HUMANBioGRID21163940 details
PSN2_HUMANHPS1_HUMANBioGRID21163940 details
PSN2_HUMANAP1G1_HUMANBioGRID27293189 details
PSN2_HUMANKC1A_HUMANBioGRID, HPRD27293189 8972483 details
PSN2_HUMANCSK21_HUMANBioGRID, HPRD27293189 8972483 9558331 9990034 details
PSN2_HUMANAURKA_HUMANBioGRID27293189 details
PSN2_HUMANRB11A_HUMANHPRD10369872 details
PSN2_HUMANMET2B_HUMANHPRD11738826 details
PSN2_HUMANDOCK3_HUMANHPRD10854253 details
PSN2_HUMANBI1_HUMANUniProt30559186 details
PSN2_HUMANAPBA1_HUMANBioGRID12196555 details
PSN2_HUMANAPBA2_HUMANBioGRID12196555 details
PSN2_HUMANAPBA3_HUMANBioGRID12196555 details
PSN2_HUMANAPH1A_HUMANBioGRID, HPRD12297508 12471034 15474363 details
PSN2_HUMANNICA_HUMANBioGRID, HPRD10993067 12297508 15474363 details
PSN2_HUMANPEN2_HUMANBioGRID, HPRD12198112 12639958 15474363 22074918 details
PSN2_HUMANTRAF6_HUMANBioGRID18996842 23707529 details
PSN2_HUMANPSN2_HUMANBioGRID15474363 details
PSN2_HUMANAPH1B_HUMANBioGRID, HPRD12297508 15474363 details
PSN2_HUMANFKBP8_HUMANBioGRID15905180 details
PSN2_HUMANBCL2_HUMANBioGRID15905180 details
PSN2_HUMANCASP3_HUMANHPRD10069390 9219695 9990034 details
PSN2_HUMANKC1D_HUMANHPRD8972483 9558331 9990034 details
PSN2_HUMANCASP6_HUMANHPRD10069390 9219695 9990034 details
PSN2_HUMANCASP7_HUMANHPRD10069390 9219695 9990034 details
PSN2_HUMANCASP8_HUMANHPRD10069390 9219695 9990034 details
PSN2_HUMANCFLAR_HUMANHPRD10069390 9219695 9990034 details
PSN2_HUMANCTND2_HUMANHPRD10037471 details
PSN2_HUMANCTNB1_HUMANHPRD10037471 details
PSN2_HUMANNOTC4_HUMANHPRD11518718 details
PSN2_HUMANNOTC1_HUMANHPRD11518718 details
PSN2_HUMANNOTC2_HUMANHPRD11518718 details
PSN2_HUMANNOTC3_HUMANHPRD11518718 details