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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BACE2 Gene

protein-coding   GIFtS: 62
GCID: GC21P042539

Beta-Site APP-Cleaving Enzyme 2


(Previous symbol: AEPLC)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Beta-Site APP-Cleaving Enzyme 21 2     Down Syndrome Region Aspartic Protease2
AEPLC1 2 3     memapsin-12
ALP562 3 5     theta-secretase2
DRAP2 3 5     Transmembrane Aspartic Proteinase Asp12
Aspartyl Protease 12 3     EC 3.4.23.453
Membrane-Associated Aspartic Protease 12 3     Memapsin-13
ASP12 3     Theta-secretase3
ASP212 3     Asp 13
Beta-Site APP-Cleaving Enzyme 2, EC 3.4.2311     Aspartic-Like Protease 56 KDa3
56 KDa Aspartic-Like Protease2     Beta-Site Amyloid Precursor Protein Cleaving Enzyme 23
BAE22     Beta-Site APP Cleaving Enzyme 23
CEAP12     Down Region Aspartic Protease3
Beta-Secretase 22     EC 3.4.238
Beta-Site Amyloid Beta A4 Precursor Protein-Cleaving Enzyme 22     

External Ids:    HGNC: 9341   Entrez Gene: 258252   Ensembl: ENSG000001822407   OMIM: 6056685   UniProtKB: Q9Y5Z03   

Export aliases for BACE2 gene to outside databases

Previous GC identifers: GC21P039113 GC21P041460 GC21P041461 GC21P028008


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BACE2 Gene:
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)

GeneCards Summary for BACE2 Gene: 
BACE2 (beta-site APP-cleaving enzyme 2) is a protein-coding gene. Diseases associated with BACE2 include down syndrome, and myositis, and among its related super-pathways are Parkinson's disease. GO annotations related to this gene include aspartic-type endopeptidase activity. An important paralog of this gene is BACE1.

UniProtKB/Swiss-Prot: BACE2_HUMAN, Q9Y5Z0
Function: Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between
residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a
corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. It has also been
shown that it can cleave APP between residues 671 and 672

Gene Wiki entry for BACE2 (Beta-secretase 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.2  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BACE2 gene promoter:
         MAZR   p53   POU2F1b   POU2F1a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBACE2 promoter sequence

   Search SABiosciences Chromatin IP Primers for BACE2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BACE2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.2   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
BACE2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BACE2 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P042539:   GeneLoc Nature:405,311-319
Start:
42,539,728 bp from pter       28,113,408 bp from centromere
End:
42,648,524 bp from pter 28,221,077 bp from centromere
Size:
108,797 bases 107,670 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: AF050171
genomic clones: P141D16 to P265B9


(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BACE2_HUMAN, Q9Y5Z0 (See protein sequence)
Recommended Name: Beta-secretase 2 precursor  
Size: 518 amino acids; 56180 Da
Subunit: Monomer. Interacts ith RTN3 and RTN4
Subcellular location: Membrane; Single-pass type I membrane protein. Golgi apparatus. Endoplasmic reticulum.
Endosome. Cell surface
6/12 PDB 3D structures from and Proteopedia for BACE2 (see all 12):
2EWY (3D)        3ZKG (3D)        3ZKI (3D)        3ZKM (3D)        3ZKN (3D)        3ZKQ (3D)    
Secondary accessions: A8K7P1 Q5DIH8 Q8N2D4 Q9H2V8 Q9NZL1 Q9NZL2 Q9UJT6
Alternative splicing: 5 isoforms:  Q9Y5Z0-1   Q9Y5Z0-2   Q9Y5Z0-3   Q9Y5Z0-4   Q9Y5Z0-5   (Ref.3 (AAF35836) sequence is in conflict in positions: 381:Q->R, 396:M->F)

Explore the universe of human proteins at neXtProt for BACE2: NX_Q9Y5Z0

Explore proteomics data for BACE2 at MOPED 

Post-translational modifications:

  • UniProtKB: Undergoes autoproteolytic cleavage
  • UniProtKB: Glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y5Z0

  • 2 DME Specific Peptides for BACE2 (Q9Y5Z0)
     SFRITILPQ  ILVDTGSSNFAV 

    BACE2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BACE2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_036237.2  NP_620476.1  NP_620477.1  

    ENSEMBL proteins: 
     ENSP00000332979   ENSP00000327528   ENSP00000333854  

    Human Recombinant Protein Products for BACE2: 
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    Sino Biological Recombinant Protein for BACE2
    Sino Biological Cell Lysate for BACE2 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IDA11423558
    GO:0009986cell surface IEA--
    GO:0016021integral to membrane NAS10749877

    BACE2 for ontologies           About GeneDecksing



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    GenScript Custom Assay Services for BACE2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR009119 Pept_A1_BACE
     IPR021109 Peptidase_aspartic
     IPR009121 Pept_A1_BACE2
     IPR001461 Peptidase_A1
     IPR001969 Peptidase_aspartic_AS

    Graphical View of Domain Structure for InterPro Entry Q9Y5Z0

    ProtoNet protein and cluster: Q9Y5Z0

    2 Blocks protein domains:
    IPB001461 Pepsin (A1) aspartic protease family signature
    IPB009119 Beta-site APP cleaving enzyme (BACE) family signature


    UniProtKB/Swiss-Prot: BACE2_HUMAN, Q9Y5Z0
    Similarity: Belongs to the peptidase A1 family


    BACE2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BACE2_HUMAN, Q9Y5Z0
    Function: Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between
    residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a
    corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. It has also been
    shown that it can cleave APP between residues 671 and 672
    Catalytic activity: Broad endopeptidase specificity. Cleaves Glu-Val-Asn-Leu- -Asp-Ala-Glu-Phe in the Swedish
    variant of Alzheimer amyloid precursor protein
    Induction: Up-regulated in primary breast and colon tumors and liver metastasis

         Enzyme Numbers (IUBMB): EC 3.4.232 EC 3.4.23.451

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004190aspartic-type endopeptidase activity IDA10591213
         
    BACE2 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bace2):
     cellular  growth/size  mortality/aging  nervous system 

    BACE2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BACE2: Bace2tm1Bdes Bace2tm2Lex

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BACE2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BACE2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BACE2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BACE2 

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    hsa-miR-98 hsa-miR-3910 hsa-let-7d hsa-miR-3065-3p hsa-let-7c hsa-miR-551b* hsa-let-7i hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidBACE2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of BACE2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BACE2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BACE2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Alzheimer's disease0.46
    2Alzheimers Disease Pathway
    Alzheimers Disease Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for BACE2
        Alzheimers Disease Pathway



    1         Kegg Pathway  (Kegg details for BACE2):
        Alzheimer's disease


    BACE2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BACE2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for BACE2 (Q9Y5Z03 ENSP000003329794) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050673, ENSP000002849814I2D: score=1 STRING: ENSP00000284981
    GGA1Q9UJY53, ENSP000003413444I2D: score=1 STRING: ENSP00000341344
    GGA2Q9UJY43, ENSP000003119624I2D: score=1 STRING: ENSP00000311962
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis NAS10749877
    GO:0006509membrane protein ectodomain proteolysis IDA10591213
    GO:0016486peptide hormone processing NAS10749877
    GO:0042985negative regulation of amyloid precursor protein biosynthetic process IMP12801932

    BACE2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for BACE2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BACE2

    Search CenterWatch for drugs/clinical trials and news about BACE2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BACE2 gene (3 alternative transcripts): 
    NM_012105.4  NM_138991.2  NM_138992.2  

    Unigene Cluster for BACE2:

    Beta-site APP-cleaving enzyme 2
    Hs.529408  [show with all ESTs]
    Unigene Representative Sequence: NM_012105
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330333(uc002yyw.3) ENST00000347667(uc002yyx.3) ENST00000328735(uc002yyy.3)
    ENST00000470864 ENST00000487994 ENST00000491838 ENST00000466122(uc010goo.3)
    ENST00000465326 ENST00000463674 ENST00000475618
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate BACE2 (see all 13):
    hsa-miR-98 hsa-miR-3910 hsa-let-7d hsa-miR-3065-3p hsa-let-7c hsa-miR-551b* hsa-let-7i hsa-let-7g
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    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BACE2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BACE2
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BACE2

    Additional mRNA sequence: 

    AF050171.1 AF117892.1 AF178532.1 AF188276.1 AF188277.1 AF200192.1 AF200342.1 AF204944.1 
    AK075539.1 AK130381.1 AK292056.1 AY358927.1 AY429520.1 AY429521.1 BC014453.1 

    15 DOTS entries:

    DT.95119722  DT.454692  DT.97824888  DT.100775475  DT.100030505  DT.95119750  DT.121129177  DT.100030503 
    DT.100722222  DT.80101836  DT.91649820  DT.95125879  DT.91984794  DT.40258064  DT.92440968 

    24/376 AceView cDNA sequences (see all 376):

    BM798660 AY429521 BF379304 AA971449 BE047003 AI654863 AA468680 AW612351 
    BU622591 AI093100 AI075944 CA306229 CB241144 AA583904 AW026566 AF188277 
    CA448430 BC014453 CA488936 C01875 AI282600 CD672794 AI066618 AF178532 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for BACE2 (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
    SP1:        -     -                 -           -                                   -                 -                     
    SP2:        -     -                 -           -                                   -                 -     -               
    SP3:        -     -                 -           -                                   -     -     -     -                     
    SP4:                                            -                                   -                                       
    SP5:                                -           -           -                                                               


    ECgene alternative splicing isoforms for BACE2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BACE2 expression in normal human tissues (normalized intensities)      BACE2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTGATGAG
    BACE2 Expression
    About this image


    BACE2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Midbrain tegmentum
             brain/midbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Retina
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Guard Dermal Papilla Cells Dermal Papilla
             Human Dermal Microvascular Endothelial Cells (HDMEC)   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   

    See BACE2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BACE2

    SOURCE GeneReport for Unigene cluster: Hs.529408

    UniProtKB/Swiss-Prot: BACE2_HUMAN, Q9Y5Z0
    Tissue specificity: Brain. Present in neurons within the hippocampus, frontal cortex and temporal cortex (at
    protein level). Expressed at low levels in most peripheral tissues and at higher levels in colon, kidney,
    pancreas, placenta, prostate, stomach and trachea. Expressed at low levels in the brain. Found in spinal cord,
    medulla oblongata, substantia nigra and locus coruleus. Expressed in the ductal epithelium of both normal and
    malignant prostate

        SABiosciences Expression via Pathway-Focused PCR Array including BACE2: 
              Alzheimer's Disease in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BACE2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BACE2 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bace21 , 5 beta-site APP-cleaving enzyme 21, 5 84.18(n)1
    89.49(a)1
      16 (57.40 cM)5
    561751  NM_019517.41  NP_062390.31 
     973567285 
    chicken
    (Gallus gallus)
    Aves BACE21 beta-site APP-cleaving enzyme 2 73.26(n)
    77.05(a)
      418526  XM_416735.3  XP_416735.3 
    lizard
    (Anolis carolinensis)
    Reptilia BACE26
    Uncharacterized protein
    68(a)
    1 ↔ 1
    3(138534372-138591682)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684822 hypothetical protein MGC68482 74.35(n)    BC059963.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi26d022 wufi26d02 81.9(n)   334004  BQ074216.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bace6
    CG171346
    (see all 11)
    --
    23(a)
    22(a)
    (see all 11)
    many ↔ many
    many ↔ many
    (see all 11)
    2L(8495108-8496307)
    2L(10820710-10821968)
    worm
    (Caenorhabditis elegans)
    Secernentea asp-36
    asp-46
    (see all 19)
    Protein ASP-4
    (see all 19)
    21(a)
    20(a)
    (see all 19)
    possible ortholog
    possible ortholog
    (see all 19)
    X(6791064-6792715)
    X(13218977-13221469)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEP46
    Vacuolar aspartyl protease (proteinase A), require...
    19(a)
    1 → many
    XVI(259714-260931)


    ENSEMBL Gene Tree for BACE2 (if available)
    TreeFam Gene Tree for BACE2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BACE2 gene
    BACE12  CTSD2  PGA32  NAPSA2  CTSE2  PGC2  PGA52  REN2  
    PGA42  
    2 SIMAP similar genes for BACE2 using alignment to 1 protein entry:     BACE2_HUMAN:
    KIAA1149    BACE1

    BACE2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2140 SNPs in BACE2 are shown (see all 2140)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1907216161,2
    --42540243(+) GCTCCC/TGCGCG 6 P L mis10--------
    rs2007582681,2
    --42540356(+) AGCGCC/TACGCC 6 H Y mis10--------
    rs2011160591,2
    C--42540561(+) GCTGT-/CCAGAG 3 -- int10--------
    rs81305371,2
    A--42540907(+) CATACC/TCTCCC 3 -- int1 trp30--------
    rs3695834841,2
    C--42540922(+) CCCCG-/CCCCCC 3 -- int10--------
    rs81306641,2
    A,H--42540968(+) AGGCTC/TGTGGC 3 -- int16Minor allele frequency- T:0.00NS EA NA 418
    rs81308161,2
    A--42541140(+) CTCATC/ACGGCG 3 -- int11Minor allele frequency- A:0.00NA 8
    rs81341601,2
    C,F,A,H--42541202(+) TGAAAT/AGCATT 3 -- int19Minor allele frequency- A:0.50WA NA CSA EA 370
    rs81267651,2
    A--42541206(+) AAGCAG/TTCCAG 3 -- int10--------
    rs1410867351,2
    --42541333(+) CTAACA/GCTTTT 3 -- int10--------

    HapMap Linkage Disequilibrium report for BACE2 (42539728 - 42648524 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for BACE2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723482CNV Deletion23290073
    esv2236625CNV Deletion18987734
    esv2723485CNV Deletion23290073
    esv2723483CNV Deletion23290073
    nsv3528CNV Insertion18451855
    esv267407CNV Insertion20981092
    esv273316CNV Insertion20981092
    nsv519019CNV Loss19592680
    nsv187046CNV Loss16902084
    nsv7347OTHER Inversion18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605668    OMIM disorders: --

    10 diseases for BACE2:    About MalaCards
    down syndrome    myositis    cerebritis    inclusion body myositis
    brain disease    alzheimer's disease    breast cancer    pancreatitis
    prostatitis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for BACE2:
    Alzheimer's disease     Down syndrome

    BACE2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10 Novoseek inferred disease relationships for BACE2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 71.6 16 11032903 (2), 19124009 (1), 19968762 (1), 10931940 (1) (see all 11)
    senile plaques 71.5 3 15857888 (1), 18163181 (1), 16305800 (1)
    down syndrome 57 7 15473697 (2), 12895444 (1), 16816112 (1), 18163181 (1) (see all 6)
    neuropathology 51.9 1 10965118 (1)
    myositis 32.8 1 11747923 (1)
    brain diseases 30 2 17511655 (1), 17113083 (1)
    breast cancer 0 8 12611455 (5), 10838186 (1), 16305800 (1)
    metastasis 0 2 10838186 (2)
    tumors 0 2 10838186 (2)
    cancer 0 3 12611455 (2)

    Genetic Association Database (GAD): BACE2
    Human Genome Epidemiology (HuGE) Navigator: BACE2 (10 documents)

    Export disorders for BACE2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BACE2 gene, integrated from 9 sources (see all 83):
    (articles sorted by number of sources associating them with BACE2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new aspartyl protease on 21q22.3, BACE2, is highly similar to Alzheimer's amyloid precursor protein beta-secretase. (PubMed id 10965118)1, 2, 3, 9 Solans A.... de La Luna S. (2000)
    2. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2, 3 Hattori M....Yaspo M.L. (2000)
    3. Distinct transcriptional regulation and function of the human BACE2 and BACE1 genes. (PubMed id 15857888)1, 2, 9 Sun X.... Song W. (2005)
    4. Crystal structure of human BACE2 in complex with a hydroxyethylamine transition-state inhibitor. (PubMed id 16305800)1, 2, 9 Ostermann N.... Gerhartz B. (2006)
    5. BACE2 functions as an alternative alpha-secretase in cells. (PubMed id 11423558)1, 2, 9 Yan R.... Bienkowski M.J. (2001)
    6. BACE2, as a novel APP theta-secretase, is not responsible for the pathogenesis of Alzheimer's disease in Down syndrome. (PubMed id 16816112)1, 2, 9 Sun X.... Song W. (2006)
    7. Prodomain processing of Asp1 (BACE2) is autocatalytic. (PubMed id 11316808)1, 2, 9 Hussain I....Dingwall C. (2001)
    8. Lack of association between the polymorphisms of beta-site APP-cleaving enzyme 2 (BACE2) 5'-flanking region and sporadic Alzheimer's disease. (PubMed id 19124009)1, 4, 9 Yu Y. and Jia J. (2009)
    9. Expression analysis of BACE2 in brain and peripheral tissues. (PubMed id 10749877)1, 2, 9 Bennett B.D....Vassar R. (2000)
    10. The gene encoding DRAP (BACE2), a glycosylated transmembrane protein of the aspartic protease family, maps to the down critical region. (PubMed id 10683441)1, 2, 9 Acquati F.... Taramelli R. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 25825 HGNC: 934 AceView: BACE2 Ensembl:ENSG00000182240 euGenes: HUgn25825
    ECgene: BACE2 Kegg: 25825 H-InvDB: BACE2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BACE2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BACE2 gene:
    Search GeneIP for patents involving BACE2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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