AutismKB 2.0

Annotation Details for BACE2


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Basic Information Top
Gene Symbol:BACE2 ( AEPLC,ALP56,ASP1,ASP21,BAE2,CEAP1,DRAP )
Gene Full Name: beta-site APP-cleaving enzyme 2
Band: 21q22.2-q22.3
Quick LinksEntrez ID:25825; OMIM: 605668; Uniprot ID:BACE2_HUMAN; ENSEMBL ID: ENSG00000182240; HGNC ID: 934
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005768IEA-endosome-
GO:0005783IEA-endoplasmic reticulum-
GO:0005794IDA-Golgi apparatus11423558
GO:0009986IEA-cell surface-
GO:0016021NAS-integral component of membrane10749877
GO ID Evidence Qualifier GO_term References
GO:0001540IBA-amyloid-beta binding-
GO:0004190IDA-aspartic-type endopeptidase activity10591213
GO ID Evidence Qualifier GO_term References
GO:0006508NAS-proteolysis10749877
GO:0006509IDA-membrane protein ectodomain proteolysis10591213
GO:0016486NAS-peptide hormone processing10749877
GO:0030163IBA-protein catabolic process-
GO:0042985IMP-negative regulation of amyloid precursor protein biosynthetic process12801932
GO:0050435IBA-amyloid-beta metabolic process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
BACE2GGA211735312135764 Protein-peptide; Reconstituted Complex
BACE2GGA211669712135764 Protein-peptide; Reconstituted Complex
GGA1BACE211754012135764 Protein-peptide; Reconstituted Complex
GGA1BACE211735312135764 Protein-peptide; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
BACE2rs1046210, rs11316732, rs12149, rs1467756, rs2252576, rs28656880, rs766850, rs9975138 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:1860440
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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