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Aliases for BACE2 Gene

Aliases for BACE2 Gene

  • Beta-Site APP-Cleaving Enzyme 2 2 3 5
  • Membrane-Associated Aspartic Protease 1 3 4
  • Aspartyl Protease 1 3 4
  • Theta-Secretase 3 4
  • Memapsin-1 3 4
  • AEPLC 3 4
  • ALP56 3 4
  • ASP21 3 4
  • ASP1 3 4
  • DRAP 3 4
  • Beta-Site Amyloid Beta A4 Precursor Protein-Cleaving Enzyme 2 3
  • Beta-Site Amyloid Precursor Protein Cleaving Enzyme 2 4
  • Down Syndrome Region Aspartic Protease 3
  • Transmembrane Aspartic Proteinase Asp1 3
  • Beta-Site APP Cleaving Enzyme 2 4
  • 56 KDa Aspartic-Like Protease 3
  • Aspartic-Like Protease 56 KDa 4
  • Down Region Aspartic Protease 4
  • EC 3.4.23.45 4
  • EC 3.4.23 63
  • CDA13 3
  • CEAP1 3
  • Asp 1 4
  • BAE2 3

External Ids for BACE2 Gene

Previous HGNC Symbols for BACE2 Gene

  • AEPLC

Previous GeneCards Identifiers for BACE2 Gene

  • GC21P039113
  • GC21P041460
  • GC21P041461
  • GC21P042539
  • GC21P028008

Summaries for BACE2 Gene

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 Alzheimer Disease. Among its related pathways are Alzheimers Disease Pathway and Alzheimer's disease. GO annotations related to this gene include aspartic-type endopeptidase activity. An important paralog of this gene is REN.

UniProtKB/Swiss-Prot for BACE2 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BACE2 Gene

Genomics for BACE2 Gene

Regulatory Elements for BACE2 Gene

Enhancers for BACE2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BACE2 on UCSC Golden Path with GeneCards custom track

Promoters for BACE2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BACE2 on UCSC Golden Path with GeneCards custom track

Genomic Location for BACE2 Gene

Chromosome:
21
Start:
41,167,801 bp from pter
End:
41,282,534 bp from pter
Size:
114,734 bases
Orientation:
Plus strand

Genomic View for BACE2 Gene

Genes around BACE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BACE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BACE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BACE2 Gene

Proteins for BACE2 Gene

  • Protein details for BACE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5Z0-BACE2_HUMAN
    Recommended name:
    Beta-secretase 2
    Protein Accession:
    Q9Y5Z0
    Secondary Accessions:
    • A8K7P1
    • Q5DIH8
    • Q8N2D4
    • Q9H2V8
    • Q9NZL1
    • Q9NZL2
    • Q9UJT6

    Protein attributes for BACE2 Gene

    Size:
    518 amino acids
    Molecular mass:
    56180 Da
    Quaternary structure:
    • Monomer. Interacts ith RTN3 and RTN4.

    Three dimensional structures from OCA and Proteopedia for BACE2 Gene

    Alternative splice isoforms for BACE2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BACE2 Gene

Proteomics data for BACE2 Gene at MOPED

Selected DME Specific Peptides for BACE2 Gene

Post-translational modifications for BACE2 Gene

Other Protein References for BACE2 Gene

Antibody Products

  • Abcam antibodies for BACE2

Domains & Families for BACE2 Gene

Suggested Antigen Peptide Sequences for BACE2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5Z0

UniProtKB/Swiss-Prot:

BACE2_HUMAN :
  • Contains 1 peptidase A1 domain.
  • Belongs to the peptidase A1 family.
Domain:
  • Contains 1 peptidase A1 domain.
Family:
  • Belongs to the peptidase A1 family.
genes like me logo Genes that share domains with BACE2: view

No data available for Gene Families for BACE2 Gene

Function for BACE2 Gene

Molecular function for BACE2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Broad endopeptidase specificity. Cleaves Glu-Val-Asn-Leu- -Asp-Ala-Glu-Phe in the Swedish variant of Alzheimers amyloid precursor protein.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Up-regulated in primary breast and colon tumors and liver metastasis.

Enzyme Numbers (IUBMB) for BACE2 Gene

genes like me logo Genes that share phenotypes with BACE2: view

Animal Models for BACE2 Gene

MGI Knock Outs for BACE2:

Animal Model Products

  • Taconic Biosciences Mouse Models for BACE2

miRNA for BACE2 Gene

miRTarBase miRNAs that target BACE2

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BACE2 Gene

Localization for BACE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BACE2 Gene

Membrane; Single-pass type I membrane protein. Golgi apparatus. Endoplasmic reticulum. Endosome. Cell surface.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BACE2 Gene COMPARTMENTS Subcellular localization image for BACE2 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
golgi apparatus 5
plasma membrane 4
extracellular 2
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for BACE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0009986 cell surface IEA --
GO:0016021 integral component of membrane NAS 10749877
genes like me logo Genes that share ontologies with BACE2: view

Pathways & Interactions for BACE2 Gene

genes like me logo Genes that share pathways with BACE2: view

Pathways by source for BACE2 Gene

1 KEGG pathway for BACE2 Gene
1 Qiagen pathway for BACE2 Gene

Gene Ontology (GO) - Biological Process for BACE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006509 membrane protein ectodomain proteolysis IDA 10591213
GO:0016486 peptide hormone processing NAS 10749877
GO:0042985 negative regulation of amyloid precursor protein biosynthetic process IMP 12801932
genes like me logo Genes that share ontologies with BACE2: view

No data available for SIGNOR curated interactions for BACE2 Gene

Drugs & Compounds for BACE2 Gene

(16) Drugs for BACE2 Gene - From: ApexBio and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amyloid Beta-Peptide (12-28) (human) Pharma 0
Amyloid Beta-peptide (25-35) (human) Pharma Functional domain of Aβ 0
Amyloid β-Peptide (10-20) (human) Pharma Initiates neurodegeneration in Alzheimer disease 0
Amyloid β-Protein (1-15) Pharma Principal component of amyloid 0
Beta-Amyloid (1-11) Pharma Amyloidogenic peptide 0

(9) ApexBio Compounds for BACE2 Gene

Compound Action Cas Number
Amyloid Beta-Peptide (12-28) (human) 107015-83-8
Amyloid Beta-peptide (25-35) (human) Functional domain of Aβ 131602-53-4
Amyloid β-Peptide (10-20) (human) Initiates neurodegeneration in Alzheimer disease 152286-31-2
Amyloid β-Protein (1-15) Principal component of amyloid 183745-81-5
Beta-Amyloid (1-11) Amyloidogenic peptide 190436-05-6
EHT 1864 Rac family small GTPases inhibitor 754240-09-0
EUK 134 Salen-manganese complexes;SOD mimetic 81065-76-1
LY2886721 BACE inhibitor 1262036-50-9
Pepstatin A Aspartic proteinases inhibitor 26305-03-3
genes like me logo Genes that share compounds with BACE2: view

Transcripts for BACE2 Gene

Unigene Clusters for BACE2 Gene

Beta-site APP-cleaving enzyme 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BACE2 Gene

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: - - -
SP6: - -
SP7: - - -
SP8: - -
SP9:
SP10:

Relevant External Links for BACE2 Gene

GeneLoc Exon Structure for
BACE2
ECgene alternative splicing isoforms for
BACE2

Expression for BACE2 Gene

mRNA expression in normal human tissues for BACE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BACE2 Gene

This gene is overexpressed in Prostate (38.7) and Pancreas (30.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BACE2 Gene



SOURCE GeneReport for Unigene cluster for BACE2 Gene Hs.529408

mRNA Expression by UniProt/SwissProt for BACE2 Gene

Q9Y5Z0-BACE2_HUMAN
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.
genes like me logo Genes that share expression patterns with BACE2: view

Protein tissue co-expression partners for BACE2 Gene

No data available for mRNA differential expression in normal tissues for BACE2 Gene

Orthologs for BACE2 Gene

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

Orthologs for BACE2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BACE2 35
  • 88.58 (n)
  • 91.94 (a)
BACE2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BACE2 35
  • 88.43 (n)
  • 93.25 (a)
BACE2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bace2 35
  • 84.58 (n)
  • 89.7 (a)
Bace2 16
Bace2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BACE2 35
  • 99.42 (n)
  • 99.81 (a)
BACE2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bace2 35
  • 83.77 (n)
  • 89.49 (a)
oppossum
(Monodelphis domestica)
Mammalia BACE2 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BACE2 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves BACE2 35
  • 73.62 (n)
  • 77.7 (a)
BACE2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BACE2 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bace2 35
  • 65.56 (n)
  • 66.94 (a)
Str.2956 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68482 35
zebrafish
(Danio rerio)
Actinopterygii wufi26d02 35
zgc:103530 35
  • 63.37 (n)
  • 63.26 (a)
bace2 36
  • 52 (a)
OneToMany
BACE2 (2 of 2) 36
  • 68 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6129 35
fruit fly
(Drosophila melanogaster)
Insecta Bace 36
  • 25 (a)
ManyToMany
CG17134 36
  • 25 (a)
ManyToMany
CG17283 36
  • 20 (a)
ManyToMany
CG31661 36
  • 21 (a)
ManyToMany
CG31926 36
  • 23 (a)
ManyToMany
CG31928 36
  • 21 (a)
ManyToMany
CG33128 36
  • 23 (a)
ManyToMany
CG5860 36
  • 24 (a)
ManyToMany
CG5863 36
  • 21 (a)
ManyToMany
CG6508 36
  • 22 (a)
ManyToMany
pcl 36
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea asp-1 36
  • 20 (a)
ManyToMany
asp-10 36
  • 17 (a)
ManyToMany
asp-12 36
  • 22 (a)
ManyToMany
asp-13 36
  • 19 (a)
ManyToMany
asp-14 36
  • 17 (a)
ManyToMany
asp-15 36
  • 20 (a)
ManyToMany
asp-16 36
  • 19 (a)
ManyToMany
asp-17 36
  • 20 (a)
ManyToMany
asp-18 36
  • 20 (a)
ManyToMany
asp-19 36
  • 20 (a)
ManyToMany
asp-2 36
  • 15 (a)
ManyToMany
asp-5 36
  • 22 (a)
ManyToMany
asp-6 36
  • 23 (a)
ManyToMany
asp-7 36
  • 19 (a)
ManyToMany
asp-8 36
  • 15 (a)
ManyToMany
asp-9 36
  • 19 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP4 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for BACE2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BACE2 Gene

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

Paralogs for BACE2 Gene

Paralogs for BACE2 Gene

(2) SIMAP similar genes for BACE2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with BACE2: view

Variants for BACE2 Gene

Sequence variations from dbSNP and Humsavar for BACE2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1077117 -- 41,227,437(-) TTCAG(C/T)TATTC intron-variant
rs1077338 -- 41,209,667(-) CAGCC(C/T)CCTTG intron-variant
rs1077339 -- 41,209,648(-) CTGGG(C/T)TAATA intron-variant
rs2252503 -- 41,170,277(+) TATTT(A/T)AAAAT intron-variant
rs2252576 -- 41,243,366(+) TATTT(C/T)CTGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BACE2 Gene

Variant ID Type Subtype PubMed ID
nsv7347 OTHER Inversion 18451855
nsv519019 CNV Loss 19592680
nsv3528 CNV Insertion 18451855
esv2723482 CNV Deletion 23290073
esv2723483 CNV Deletion 23290073
esv2236625 CNV Deletion 18987734
esv2723485 CNV Deletion 23290073
esv273316 CNV Insertion 20981092
esv267407 CNV Insertion 20981092
nsv187046 CNV Loss 16902084

Variation tolerance for BACE2 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.52% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for BACE2 Gene

Disorders for BACE2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for BACE2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • complete trisomy 21 syndrome
alzheimer disease
  • alzheimer disease, late-onset
myositis
  • inflammatory disorder of muscle
inclusion body myositis
  • nonaka myopathy
ancylostomiasis
  • ancylostomosis
- elite association - COSMIC cancer census association via MalaCards
Search BACE2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BACE2

Genetic Association Database (GAD)
BACE2
Human Genome Epidemiology (HuGE) Navigator
BACE2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BACE2
genes like me logo Genes that share disorders with BACE2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BACE2 Gene

Publications for BACE2 Gene

  1. A new aspartyl protease on 21q22.3, BACE2, is highly similar to Alzheimer's amyloid precursor protein beta-secretase. (PMID: 10965118) Solans A. … de La Luna S. (Cytogenet. Cell Genet. 2000) 2 3 4 23 67
  2. Characterization of a mouse model overexpressing beta-site APP-cleaving enzyme 2 reveals a new role for BACE2. (PMID: 19840121) Azkona G. … Dierssen M. (Genes Brain Behav. 2010) 3 23
  3. BACE1 and BACE2 enzymatic activities in Alzheimer's disease. (PMID: 19968762) Ahmed R.R. … Murphy M.P. (J. Neurochem. 2010) 3 23
  4. Lack of association between the polymorphisms of beta-site APP-cleaving enzyme 2 (BACE2) 5'-flanking region and sporadic Alzheimer's disease. (PMID: 19124009) Yu Y. … Jia J. (Brain Res. 2009) 3 23
  5. Protein expression of BACE1, BACE2 and APP in Down syndrome brains. (PMID: 18163181) Cheon M.S. … Lubec G. (Amino Acids 2008) 3 23

Products for BACE2 Gene

Sources for BACE2 Gene

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