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

BACE2 Gene

protein-coding   GIFtS: 63
GCID: GC21P042539

beta-site APP-cleaving enzyme 2


(Previous symbol: AEPLC)
 Explore 11 diseases affiliated with
BACE2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BACE2    

Aliases
for BACE2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section
Aliases
Beta-Site APP-Cleaving Enzyme 21 2     Beta-Site APP-Cleaving Enzyme 2, EC 3.4.2311
ALP561 2 3 5     56 KDa Aspartic-Like Protease2
DRAP1 2 3 5     BAE22
AEPLC1 2 3     Beta Secretase 22
CEAP11 2     Beta-Secretase 22
Asp 12 3     Beta-Site Amyloid Beta A4 Precursor Protein-Cleaving Enzyme 22
Aspartic-Like Protease 56 KDa2 3     Down Syndrome Region Aspartic Protease2
Aspartyl Protease 12 3     Memapsin-13
Beta-Site Amyloid Precursor Protein Cleaving Enzyme 22 3     Theta-Secretase1
Beta-Site APP Cleaving Enzyme 22 3     Transmembrane Aspartic Proteinase Asp12
Down Region Aspartic Protease2 3     EC 3.4.23.453
Membrane-Associated Aspartic Protease 12 3     Memapsin-13
ASP12 3     Theta-Secretase1
ASP212 3     EC 3.4.238

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


Summaries
for BACE2 gene

(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:
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)

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)


Genomic Views
for BACE2 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 69), 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_018932.1  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 plasmid: BACE2 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

Proteins
for BACE2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
1 PDB 3D structure from and Proteopedia for BACE2:
2EWY (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

Post-translational modifications:

  • Undergoes autoproteolytic cleavage1
  • Glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y5Z0

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

    BACE2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000332979   ENSP00000327528   ENSP00000333854  

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    Novus Biologicals BACE2 Proteins
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    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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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for BACE2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BACE2 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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


    Function
    for BACE2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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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 plasmid: BACE2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for BACE2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BACE2 

    Cell Line
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    Search LifeMap BioReagents cell lines for BACE2

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

    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


    Animal Models:
         Mouse knock-outs for BACE2: Bace2tm1Bdes Bace2tm2Lex
         4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Bace2):
     cellular  growth/size  mortality/aging  nervous system 

    BACE2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BACE2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Alzheimers Disease Pathway
    		Alzheimers Disease Pathway1.00
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		Alzheimer's disease0.43

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for BACE2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for BACE2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for BACE2 gene (3 alternative transcripts): 
    NM_012105.3  NM_138991.1  NM_138992.1  

    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

    miRNA
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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 plasmid: BACE2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BACE2 (see all 7)
    OriGene shRNA RFP: BACE2
    OriGene siRNA: BACE2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BACE2
    Clone
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    Primer
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    Additional cDNA 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):

    AI401060 AI990919 AF200342 AF188277 AA826668 AA468680 AI654863 AI624036 
    AW166334 AI623738 BF379304 AA583904 AI066618 AA971449 AI075944 CA314791 
    BQ067456 BM758344 AI308095 AW275894 AW517201 BM556855 AW207240 AW300733 

    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

    Expression
    for BACE2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTGATGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BACE2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal Collecting Duct SystemKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)

    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
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BACE2

    Orthologs
    for BACE2 gene

    (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 eukaryotes.

    Orthologs for BACE2 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 68(a)
    		 1 ↔ 1
    		 3(138534372-138590874)
    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 
    worm
    (Caenorhabditis elegans)    		 Secernentea K10C2.36
    		 Protein K10C2.3
    		 14(a)
    		 possible ortholog
    		 X(6444148-6446701)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G691006
    		 aspartic-type endopeptidase
    		 20(a)
    		 possible ortholog
    		 1(25979999-25981436)


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

    Paralogs
    for BACE2 gene

    (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  ENSG000002506442  CTSE2  PGC2  PGA52  
    ENSG000002659692  REN2  PGA42  
    2 SIMAP similar genes for BACE2 using alignment to 1 protein entry:     BACE2_HUMAN:
    KIAA1149    BACE1

    BACE2 for paralogs           About GeneDecksing



    Genomic Variants
    for BACE2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2002 NCBI SNPs in BACE2 are shown (see all 2002)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1396130171,2
    		--42537762(+) TGCATC/TGGTCA 4 -- us2k10--------
    rs1113481221,2
    		C,--42537788(+) CAATGG/CTATTC 4 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs286568801,2
    		C,F,--42537986(+) GACAGC/TTCTGC 4 -- us2k12Minor allele frequency- T:0.10NA EA 240
    rs1445315951,2
    		--42538248(+) ATACAC/TTTCAT 4 -- us2k10--------
    rs1484325011,2
    		--42538272(+) AGATTA/GTATTC 4 -- us2k10--------
    rs99751381,2
    		C,F,--42538349(+) ATTTTA/TAAAAA 4 -- us2k16Minor allele frequency- T:0.17WA CSA NA EA 364
    rs1149445821,2
    		--42538477(+) TATGCC/TTTTCT 4 -- us2k10--------
    rs1425417351,2
    		--42538485(+) TCTTCA/CTGGAG 4 -- us2k10--------
    rs1843539161,2
    		--42538581(+) CTCTGA/CCATAA 4 -- us2k10--------
    rs1887048401,2
    		--42538589(+) TAAAGG/TTCCCT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for BACE2 (42539728 - 42648524 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for BACE2
         1 CNV: 6139
         1 Indel: 46174
         1 Inversion: 37236

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    Disorders / Diseases
    for BACE2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    BACE2 for disorders           About GeneDecksing

    OMIM gene information: 605668    OMIM disorders: --

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

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

    10 Novoseek 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

    Publications
    for BACE2 gene

    (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 77):
    (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. Expression analysis of BACE2 in brain and peripheral tissues. (PubMed id 10749877)1, 2, 9 Bennett B.D....Vassar R. (2000)
    9. 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)
    10. Identification of a novel aspartic-like protease differentially expressed in human breast cancer cell lines. (PubMed id 10838186)1, 2, 9 Xin H.... Giese K. (2000)

    External Searches for BACE2 gene

    (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)

    Genome Databases showing BACE2 gene

    (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

    Other Databases showing BACE2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BACE2 gene

    (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

    Intellectual Property
    for BACE2 gene

    (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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