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BACE2 beta-secretase 2 [ Homo sapiens (human) ]

Gene ID: 25825, updated on 3-Jun-2018
Official Symbol
BACE2provided by HGNC
Official Full Name
beta-secretase 2provided by HGNC
Primary source
HGNC:HGNC:934
See related
Ensembl:ENSG00000182240 MIM:605668; Vega:OTTHUMG00000086742
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASP1; BAE2; DRAP; AEPLC; ALP56; ASP21; CDA13; CEAP1
Summary
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]
Expression
Ubiquitous expression in stomach (RPKM 12.5), gall bladder (RPKM 11.8) and 23 other tissues See more
Orthologs
See BACE2 in Genome Data Viewer
Location:
21q22.2-q22.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (41167801..41282534)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (42539728..42654461)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985495 Neighboring gene microRNA 3197 Neighboring gene placenta specific 4 Neighboring gene family with sequence similarity 3 member B Neighboring gene MX dynamin like GTPase 2

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of beta-site APP-cleaving enzyme 2 (BACE2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat recruits APP into lipid rafts to facilitate the processing of APP by beta-secretase, which leads to increased levels of ABeta42 in HIV-1 infected U-87 MG cells PubMed

Go to the HIV-1, Human Interaction Database

  • Alzheimer's disease, organism-specific biosystem (from KEGG)
    Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimer's disease, conserved biosystem (from KEGG)
    Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ13585

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amyloid-beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aspartic-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aspartic-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
amyloid-beta metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane protein ectodomain proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane protein ectodomain proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
membrane protein ectodomain proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of amyloid precursor protein biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptide hormone processing NAS
Non-traceable Author Statement
more info
PubMed 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
endosome IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
beta-secretase 2
Names
56 kDa aspartic-like protease
Down syndrome region aspartic protease
SLCO3A1/BACE2 fusion
aspartyl protease 1
beta-site APP-cleaving enzyme 2
beta-site amyloid beta A4 precursor protein-cleaving enzyme 2
memapsin-1
membrane-associated aspartic protease 1
theta-secretase
transmembrane aspartic proteinase Asp1
NP_036237.2
NP_620476.1
NP_620477.1
XP_016883803.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012105.4NP_036237.2  beta-secretase 2 isoform A preproprotein

    See identical proteins and their annotated locations for NP_036237.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (A).
    Source sequence(s)
    AF178532, AF188276, AF200342, AL773572, AL773578
    Consensus CDS
    CCDS13668.1
    UniProtKB/Swiss-Prot
    Q9Y5Z0
    Related
    ENSP00000332979.6, OTTHUMP00000109198, ENST00000330333.10, OTTHUMT00000195056
    Conserved Domains (2) summary
    cd05473
    Location:89450
    beta_secretase_like; Beta-secretase, aspartic-acid protease important in the pathogenesis of Alzheimer's disease
    pfam00026
    Location:92430
    Asp; Eukaryotic aspartyl protease
  2. NM_138991.2NP_620476.1  beta-secretase 2 isoform C preproprotein

    See identical proteins and their annotated locations for NP_620476.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) lacks an alternate in-frame exon, compared to variant a. The encoded isoform (C) is shorter than isoform A.
    Source sequence(s)
    AF188276, AF200342, AL773572, AL773578
    Consensus CDS
    CCDS13669.1
    UniProtKB/Swiss-Prot
    Q9Y5Z0
    Related
    ENSP00000327528.4, OTTHUMP00000109199, ENST00000347667.5, OTTHUMT00000195057
    Conserved Domains (2) summary
    pfam00026
    Location:92380
    Asp; Eukaryotic aspartyl protease
    cl11403
    Location:89400
    pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases
  3. NM_138992.2NP_620477.1  beta-secretase 2 isoform B preproprotein

    See identical proteins and their annotated locations for NP_620477.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant a. The encoded isoform (B) is shorter and has a distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AF188276, AF188277, AF200342, AL773572, AL773578
    Consensus CDS
    CCDS13670.1
    UniProtKB/Swiss-Prot
    Q9Y5Z0
    Related
    ENSP00000333854.6, OTTHUMP00000109200, ENST00000328735.10, OTTHUMT00000195058
    Conserved Domains (1) summary
    cl11403
    Location:89393
    pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    41167801..41282534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028314.1XP_016883803.1  beta-secretase 2 isoform X1

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