Version 5.4
Homo sapiens Gene: BACE2
Summary
InnateDB Gene IDBG-3852.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BACE2
Gene Name beta-site APP-cleaving enzyme 2
Synonyms AEPLC; ALP56; ASP1; ASP21; BAE2; CEAP1; DRAP
Species Homo sapiens
Ensembl Gene ENSG00000182240
Encoded Proteins
IDBP-3854
beta-site APP-cleaving enzyme 2
IDBP-3856
beta-site APP-cleaving enzyme 2
IDBP-3858
beta-site APP-cleaving enzyme 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease and a frequent complication of Down syndrome. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein by 2 proteases, one of which is the protein encoded by this gene. This gene localizes to the 'Down critical region' of chromosome 21. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease. Three transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer\'s disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:41167801-41282518
Strand Forward strand
Band q22.2
Transcripts
ENST00000330333 ENSP00000332979
ENST00000347667 ENSP00000327528
ENST00000328735 ENSP00000333854
ENST00000470864
ENST00000487994
ENST00000491838
ENST00000466122
ENST00000465326
ENST00000463674
ENST00000475618
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004190 aspartic-type endopeptidase activity
Biological Process
GO:0006508 proteolysis
GO:0006509 membrane protein ectodomain proteolysis
GO:0016486 peptide hormone processing
GO:0042985 negative regulation of amyloid precursor protein biosynthetic process
Cellular Component
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0009986 cell surface
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000040605
View Gene Order
ENSBTAG00000000394
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa05010
Alzheimer's disease pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.529408
RefSeq NM_012105 NM_138991 NM_138992
HUGO
OMIM
CCDS CCDS13668 CCDS13669 CCDS13670
HPRD 05744
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca