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    BACE2 beta-site APP-cleaving enzyme 2 [ Homo sapiens (human) ]

    Gene ID: 25825, updated on 22-Apr-2017
    Official Symbol
    BACE2provided by HGNC
    Official Full Name
    beta-site APP-cleaving enzyme 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]
    Orthologs
    Location:
    21q22.2-q22.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC105372807 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
    aspartic-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-amyloid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    beta-amyloid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    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 
    protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    proteolysis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    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 
    Preferred Names
    beta-secretase 2
    Names
    56 kDa aspartic-like protease
    Down syndrome region aspartic protease
    aspartyl protease 1
    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

    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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p7 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

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      42100065..42215315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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