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BACE2 Gene

protein-coding   GIFtS: 63
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NC_018932.2  NT_011512.12  
Regulatory elements:
   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 Chromatin IP Primers for BACE2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
42,654,445 bp from pter 28,221,077 bp from centromere
Size:
114,718 bases 107,670 bases
Orientation:
plus strand plus strand

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


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
Selected 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: 

  • Undergoes autoproteolytic cleavage1
  • Glycosylated1
  • Glycosylation2 at Asn170, Asn366
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for BACE2 (Q9Y5Z0)
     SFRITILPQ  ILVDTGSSNFAV 


    See BACE2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000332979   ENSP00000333854   ENSP00000327528  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR021109 Peptidase_aspartic_dom
     IPR001969 Aspartic_peptidase_AS
     IPR009119 Pept_A1_BACE
     IPR001461 Aspartic_peptidase
     IPR009121 Pept_A1_BACE2

    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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/body  mortality/aging  nervous system 

    BACE2 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BACE2
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    miRNA
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    miRTarBase miRNAs that target BACE2:
    hsa-mir-484 (MIRT042142)

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    Selected qRT-PCR 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
    SwitchGear 3'UTR luciferase reporter plasmidBACE2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BACE2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): BACE2 (NM_138991)
    Sino Biological Human cDNA Clone for BACE2
    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BACE2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BACE2_HUMAN, Q9Y5Z0: Membrane; Single-pass type I membrane protein. Golgi apparatus. Endoplasmic reticulum.
    Endosome. Cell surface
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    endosome5
    golgi apparatus5
    plasma membrane3
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    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 component of membrane NAS10749877

    BACE2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for BACE2 About    
    See pathways by source

    SuperPathContained pathways About
    1Alzheimer's disease
    Alzheimer's disease0.44
    2Alzheimers Disease Pathway
    Alzheimers Disease Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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



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


    BACE2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including BACE2: 
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BACE2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for BACE2 (Q9Y5Z03 ENSP000003329794) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    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
    ERLEC1ENSP000001851504STRING: ENSP00000185150
    About this table

    Gene Ontology (GO): 4 biological process terms:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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) ENST00000328735(uc002yyy.3) ENST00000347667(uc002yyx.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

    miRNA
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    Selected qRT-PCR 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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      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 

    Selected AceView cDNA sequences (see all 376):

    AI347803 BQ000510 BF448116 CA489608 BM758182 R51967 CA314791 CA429973 
    AW207240 AW612351 AI093100 AA298517 BQ892632 AI635033 AW002427 AF178532 
    AY358927 AW167603 BU685034 AI990919 AA857986 BM758344 BU622591 AW473337 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BACE2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
             Oligodendrocyte-like cells
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 4D20.8, NCr-fac Progenitor
    BACE2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BACE2 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including BACE2: 
              Alzheimer's Disease in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat BACE2
    In Situ
    Assay Products:
     

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

    Orthologs for BACE2 gene from Selected 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 84.58(n)1
    89.7(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 73.62(n)
    77.7(a)
      418526  XM_416735.4  XP_416735.4 
    lizard
    (Anolis carolinensis)
    Reptilia BACE26
    beta-site APP-cleaving enzyme 2
    69(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 CG171346
    Bace6
    (see all 11)
    beta-site APP-cleaving enzyme
    (see all 11)
    25(a)
    25(a)
    (see all 11)
    many ↔ many
    many ↔ many
    (see all 11)
    2L(10820710-10821968)
    2L(8495108-8496307)
    worm
    (Caenorhabditis elegans)
    Secernentea asp-66
    asp-56
    (see all 16)
    Protein ASP-5 (asp-5) mRNA, complete cds
    (see all 16)
    23(a)
    22(a)
    (see all 16)
    many ↔ many
    many ↔ many
    (see all 16)
    V(8267546-8268937) WBGene00000219
    V(8272375-8274047) WBGene00000218
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEP46
    Vacuolar aspartyl protease (proteinase A), require...
    21(a)
    1 → many
    XVI(259714-260931) YPL154C


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BACE2 (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 - 42654445 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BACE2
    DNA2.0 Custom Variant and Variant Library Synthesis for BACE2

    (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.)
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    OMIM gene information: 605668    OMIM disorders: --

    12 diseases for BACE2:    
    About MalaCards
    down syndrome    myositis    brain disease    inclusion body myositis
    alzheimer's disease    breast cancer    cerebritis    retinitis
    hiv-1    pancreatitis    neuronitis    prostatitis

    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)
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    PubMed articles for BACE2 gene, integrated from 10 sources (see all 85):
    (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. (Cytogenet. Cell Genet. 2000)
    2. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2, 3 Hattori M.... Yaspo M.-L. (Nature 2000)
    3. Distinct transcriptional regulation and function of the human BACE2 and BACE1 genes. (PubMed id 15857888)1, 2, 9 Sun X.... Song W. (FASEB J. 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. (J. Mol. Biol. 2006)
    5. BACE2 functions as an alternative alpha-secretase in cells. (PubMed id 11423558)1, 2, 9 Yan R.... Bienkowski M.J. (J. Biol. Chem. 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. (FASEB J. 2006)
    7. Prodomain processing of Asp1 (BACE2) is autocatalytic. (PubMed id 11316808)1, 2, 9 Hussain I.... Dingwall C. (J. Biol. Chem. 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. (Brain Res. 2009)
    9. Expression analysis of BACE2 in brain and peripheral tissues. (PubMed id 10749877)1, 2, 9 Bennett B.D.... Vassar R. (J. Biol. Chem. 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. (FEBS Lett. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 25825 HGNC: 934 AceView: BACE2 Ensembl:ENSG00000182240 euGenes: HUgn25825
    ECgene: BACE2 Kegg: 25825 H-InvDB: BACE2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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