AutismKB 2.0

Annotation Details for PSEN2


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Basic Information Top
Gene Symbol:PSEN2 ( AD3L,AD4,PS2,STM2 )
Gene Full Name: presenilin 2 (Alzheimer disease 4)
Band: 1q42.13
Quick LinksEntrez ID:5664; OMIM: 600759; Uniprot ID:PSN2_HUMAN; ENSEMBL ID: ENSG00000143801; HGNC ID: 9509
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0000776IDA-kinetochore9298903
GO:0005637IDA-nuclear inner membrane9298903
GO:0005783IDA-endoplasmic reticulum15274632
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0005794IDA-Golgi apparatus15274632
GO:0005813IDA-centrosome9298903
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane15274632
GO:0016020IDA-membrane19946888
GO:0030018IBA-Z disc-
GO:0043025IBA-neuronal cell body-
GO:0043234IDA-protein complex9632714
GO:0048471IBA-perinuclear region of cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0004175IBA-endopeptidase activity-
GO:0004190IEA-aspartic-type endopeptidase activity-
GO:0005515IPI-protein binding10366599
GO ID Evidence Qualifier GO_term References
GO:0001666IEA-response to hypoxia-
GO:0006509IDA-membrane protein ectodomain proteolysis15274632
GO:0006816IBA-calcium ion transport-
GO:0007219TAS-Notch signaling pathway-
GO:0007220TAS-Notch receptor processing15274632
GO:0016485IDA-protein processing15274632
GO:0031293TAS-membrane protein intracellular domain proteolysis-
GO:0035556IEA-intracellular signal transduction-
GO:0042987TAS-amyloid precursor protein catabolic process15274632
GO:0043065TAS-positive regulation of apoptotic process-
GO:0043066IBA-negative regulation of apoptotic process-
GO:0043085IDA-positive regulation of catalytic activity15274632
GO:0048013TAS-ephrin receptor signaling pathway-
GO:0050435IBA-amyloid-beta metabolic process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PSEN2APBA110681712196555 Affinity Capture-Western
PSEN2APBA111164312196555 Affinity Capture-Western
PSEN2APBA211164312196555 Affinity Capture-Western
PSEN2APBA210681812196555 Affinity Capture-Western
PSEN2BCL2L111164310446169 Affinity Capture-Western; Two-hybrid
PSEN2BCL2L110707010446169 Affinity Capture-Western; Two-hybrid
PSEN2CAPN11116439852298 Affinity Capture-Western; Two-hybrid
PSEN2CAPN11072739852298 Affinity Capture-Western; Two-hybrid
PSEN2FHL211164311001931 Affinity Capture-Western; Two-hybrid
PSEN2FHL210856511001931 Affinity Capture-Western; Two-hybrid
PSEN2FLNB1116439437013 Reconstituted Complex; Two-hybrid
PSEN2FLNB1086069437013 Reconstituted Complex; Two-hybrid
PSEN2GFAP11164312058025 Two-hybrid
PSEN2GFAP10893812058025 Two-hybrid
PSEN2PSEN111164212471034 Affinity Capture-Western
PSEN2PSEN111164312471034 Affinity Capture-Western
KCNIP3PSEN21116439771752 11278424 Affinity Capture-Western; Two-hybrid
KCNIP3PSEN21190429771752 11278424 Affinity Capture-Western; Two-hybrid
CIB1PSEN211577410366599 Phenotypic Enhancement; Reconstituted Complex; Two-hybrid
CIB1PSEN211164310366599 Phenotypic Enhancement; Reconstituted Complex; Two-hybrid
SRIPSEN211259510748169 Affinity Capture-Western
SRIPSEN211164310748169 Affinity Capture-Western
NCSTNPSEN211696110993067 12297508 Affinity Capture-Western
NCSTNPSEN211164310993067 12297508 Affinity Capture-Western
UBQLN1PSEN211900711076969 17614368 Reconstituted Complex; Two-hybrid
UBQLN1PSEN211164311076969 17614368 Reconstituted Complex; Two-hybrid
ICAM5PSEN211294211719200 Reconstituted Complex
ICAM5PSEN211164311719200 Reconstituted Complex
KCNIP4PSEN212324411847232 Affinity Capture-Western; Two-hybrid
KCNIP4PSEN211164311847232 Affinity Capture-Western; Two-hybrid
APBA3PSEN211492012196555 Affinity Capture-Western
APBA3PSEN211164312196555 Affinity Capture-Western
PSENENPSEN212095312198112 Affinity Capture-Western
PSENENPSEN211164312198112 Affinity Capture-Western
APH1APSEN211929612297508 12471034 Affinity Capture-Western
APH1APSEN211164312297508 12471034 Affinity Capture-Western
UBCPSEN211316417614368 Affinity Capture-Western
UBCPSEN211164317614368 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
PSEN2C-12824-T, PSEN2_5'indel, rs1046240, rs10753428, rs1295643, rs1295644, rs1800672, rs1800675, rs1800678, rs1800680, rs1800681, rs2855562, rs743601, rs743602, rs8383 Gene overview in AlzGene
No data
Gene Symbol Poly Names Gene overview in SZGene
PSEN2rs1046240, rs11405, rs1295645, rs6759, rs8383 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:109284
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-000330-9'