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 transcrip... See more...

Aliases for BACE2 Gene

Aliases for BACE2 Gene

  • Beta-Secretase 2 2 3 4 5
  • ALP56 2 3 4
  • DRAP 2 3 4
  • Membrane-Associated Aspartic Protease 1 3 4
  • Beta-Site APP-Cleaving Enzyme 2 2 3
  • Aspartyl Protease 1 3 4
  • Theta-Secretase 3 4
  • Memapsin-1 3 4
  • AEPLC 3 4
  • ASP21 3 4
  • CEAP1 2 3
  • ASP1 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
  • SLCO3A1/BACE2 Fusion 3
  • EC 3.4.23.45 4
  • Memapsin 1 2
  • EC 3.4.23 51
  • CDA13 3
  • BACE2 5
  • 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-Secretase 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 Parkinson disease. Gene Ontology (GO) annotations related to this gene include aspartic-type endopeptidase activity. An important paralog of this gene is BACE1.

UniProtKB/Swiss-Prot Summary 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. Responsible also for the proteolytic processing of CLTRN in pancreatic beta cells (PubMed:21907142).

Gene Wiki entry for BACE2 Gene

Additional gene information for BACE2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BACE2 Gene

Genomics for BACE2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BACE2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J041166 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 619.1 +1.6 1643 5.7 CTCF PRDM10 ZNF629 ZNF692 ZNF143 ZIC2 PATZ1 EZH2 ZNF341 ZFX BACE2 LINC00323 MIR3197 PRDM15 BACE2-IT1 FAM3B
GH21J041246 Enhancer 1 FANTOM5 Ensembl ENCODE 71.8 +82.2 82169 6.5 CREB1 ZNF629 ZNF692 FOXA1 MNT ZXDB OSR2 FOS MBD1 WT1 BACE2 NONHSAG032897.2 lnc-BACE2-1 FAM3B
GH21J041112 Enhancer 1.1 FANTOM5 ENCODE CraniofacialAtlas 11.3 -54.3 -54325 1.6 CREB1 ZNF512 RFX5 TARDBP GTF2F1 CTBP1 GABPA PKNOX1 ZNF217 CUX1 BACE2 RIPK4 piR-60051-066 ENSG00000286425 DSCAM
GH21J041215 Enhancer 0.7 Ensembl ENCODE 16.2 +49.1 49062 4.1 EGR1 NFE2 NR2C2 ZFHX2 CEBPG CEBPB ZNF664 EGR2 piR-53427 BACE2 LINC00323 lnc-FAM3B-7 FAM3B
GH21J041206 Enhancer 0.5 ENCODE 19.6 +39.9 39932 1.5 PRDM1 ZIC2 CEBPB ZBTB48 NFIC NFIB HLF BACE2 lnc-FAM3B-9 piR-45963-001 FAM3B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BACE2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BACE2

Top Transcription factor binding sites by QIAGEN in the BACE2 gene promoter:
  • MAZR
  • p53
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for BACE2 Gene

Genomic Locations for BACE2 Gene
chr21:41,167,801-41,282,530
(GRCh38/hg38)
Size:
114,730 bases
Orientation:
Plus strand
chr21:42,539,728-42,654,445
(GRCh37/hg19)
Size:
114,718 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

Selected DME Specific Peptides for BACE2 Gene

Q9Y5Z0:
  • SFRITILPQ
  • ILVDTGSSNFAV

Post-translational modifications for BACE2 Gene

Other Protein References for BACE2 Gene

Domains & Families for BACE2 Gene

Gene Families for BACE2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for BACE2 Gene

InterPro:
Blocks:
  • Pepsin (A1) aspartic protease family signature
  • Beta-site APP cleaving enzyme (BACE) family signature
ProtoNet:

Suggested Antigen Peptide Sequences for BACE2 Gene

GenScript: Design optimal peptide antigens:
  • Theta-secretase (BACE2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5Z0

UniProtKB/Swiss-Prot:

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

Function for BACE2 Gene

Molecular function for BACE2 Gene

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. Responsible also for the proteolytic processing of CLTRN in pancreatic beta cells (PubMed:21907142).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Broad endopeptidase specificity. Cleaves Glu-Val-Asn-Leu-|-Asp-Ala-Glu-Phe in the Swedish variant of Alzheimer's amyloid precursor protein.; EC=3.4.23.45; Evidence={ECO:0000269|PubMed:11083922, ECO:0000269|PubMed:21907142};.
UniProtKB/Swiss-Prot Induction:
Up-regulated in primary breast and colon tumors and liver metastasis.

Enzyme Numbers (IUBMB) for BACE2 Gene

Phenotypes From GWAS Catalog for BACE2 Gene

Gene Ontology (GO) - Molecular Function for BACE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004190 aspartic-type endopeptidase activity IBA,IDA 10591213
GO:0005515 protein binding IPI 26840340
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with BACE2: view
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

CRISPR Products

miRNA for BACE2 Gene

miRTarBase miRNAs that target BACE2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BACE2

Clone Products

No data available for 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

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BACE2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
endosome 5
golgi apparatus 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for BACE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IBA,IDA 11423558
GO:0005802 trans-Golgi network IBA 21873635
genes like me logo Genes that share ontologies with BACE2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BACE2 Gene

Pathways & Interactions for BACE2 Gene

PathCards logo

SuperPathways for BACE2 Gene

SuperPathway Contained pathways
1 Parkinson disease
2 Alzheimers Disease Pathway
-
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
  • Alzheimers Disease Pathway

Gene Ontology (GO) - Biological Process for BACE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IBA,NAS 10749877
GO:0006509 membrane protein ectodomain proteolysis IBA,IMP 21907142
GO:0016486 peptide hormone processing NAS 10749877
GO:0030163 protein catabolic process IBA --
GO:0042593 glucose homeostasis IMP 21907142
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Posiphen Investigational Pharma 0
Amyloid Beta-Peptide (12-28) (human) Pharma 0
Amyloid Beta-Peptide (1-40) (human) Pharma Amyloid precursor protein 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

(10) ApexBio Compounds for BACE2 Gene

Compound Action Cas Number
Amyloid Beta-Peptide (12-28) (human) 107015-83-8
Amyloid Beta-Peptide (1-40) (human) Amyloid precursor protein 131438-79-4
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

Drug Products

Transcripts for BACE2 Gene

mRNA/cDNA for BACE2 Gene

3 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BACE2

Clone Products

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

Expression for BACE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for BACE2 Gene



Protein tissue co-expression partners for BACE2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BACE2

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.

Evidence on tissue expression from TISSUES for BACE2 Gene

  • Skin(4.8)
  • Stomach(4.5)
  • Bone marrow(4.2)
  • Nervous system(2.9)
  • Pancreas(2.6)
  • Intestine(2.6)
  • Kidney(2.4)
  • Lung(2.3)
  • Muscle(2.1)
  • Liver(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with BACE2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia BACE2 30 31
  • 99.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BACE2 30 31
  • 88.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BACE2 30 31
  • 88.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bace2 30 17 31
  • 84.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bace2 30
  • 83.77 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia BACE2 31
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BACE2 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BACE2 30 31
  • 73.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BACE2 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bace2 30
  • 65.56 (n)
Str.2956 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68482 30
Zebrafish
(Danio rerio)
Actinopterygii BACE2 (2 of 2) 31
  • 68 (a)
OneToMany
zgc:103530 30
  • 63.37 (n)
bace2 31
  • 52 (a)
OneToMany
wufi26d02 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6129 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG17134 31
  • 25 (a)
ManyToMany
Bace 31
  • 25 (a)
ManyToMany
CG5860 31
  • 24 (a)
ManyToMany
CG33128 31
  • 23 (a)
ManyToMany
CG31926 31
  • 23 (a)
ManyToMany
pcl 31
  • 23 (a)
ManyToMany
CG6508 31
  • 22 (a)
ManyToMany
CG31928 31
  • 21 (a)
ManyToMany
CG5863 31
  • 21 (a)
ManyToMany
CG31661 31
  • 21 (a)
ManyToMany
CG17283 31
  • 20 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea asp-6 31
  • 23 (a)
ManyToMany
asp-5 31
  • 22 (a)
ManyToMany
asp-12 31
  • 22 (a)
ManyToMany
asp-15 31
  • 20 (a)
ManyToMany
asp-1 31
  • 20 (a)
ManyToMany
asp-18 31
  • 20 (a)
ManyToMany
asp-19 31
  • 20 (a)
ManyToMany
asp-17 31
  • 20 (a)
ManyToMany
asp-13 31
  • 19 (a)
ManyToMany
asp-16 31
  • 19 (a)
ManyToMany
asp-7 31
  • 19 (a)
ManyToMany
asp-9 31
  • 19 (a)
ManyToMany
asp-14 31
  • 17 (a)
ManyToMany
asp-10 31
  • 17 (a)
ManyToMany
asp-8 31
  • 15 (a)
ManyToMany
asp-2 31
  • 15 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP4 31
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToMany
Species where no ortholog for BACE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BACE2: view image

Paralogs for BACE2 Gene

Paralogs for BACE2 Gene

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

  • BACE2_HUMAN
genes like me logo Genes that share paralogs with BACE2: view

Variants for BACE2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BACE2 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
711742 Likely Benign: not provided 41,257,256(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
724936 Benign: not provided 41,168,429(+) C/T MISSENSE_VARIANT
726927 Likely Benign: not provided 41,275,499(+) G/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
755920 Likely Benign: not provided 41,168,527(+) T/A SYNONYMOUS_VARIANT
786689 Benign: not provided 41,257,148(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for BACE2 Gene

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

Variant ID Type Subtype PubMed ID
esv2236625 CNV deletion 18987734
esv2723482 CNV deletion 23290073
esv2723483 CNV deletion 23290073
esv2723485 CNV deletion 23290073
esv3303127 CNV mobile element insertion 20981092
esv3309043 CNV mobile element insertion 20981092
esv3404742 CNV insertion 20981092
esv3410618 CNV insertion 20981092
esv3557742 CNV deletion 23714750
nsv1072179 CNV deletion 25765185
nsv1136641 CNV deletion 24896259
nsv1144002 CNV deletion 24896259
nsv187046 CNV deletion 16902084
nsv3528 CNV insertion 18451855
nsv519019 CNV loss 19592680
nsv587492 CNV loss 21841781
nsv587493 CNV gain 21841781
nsv7347 OTHER inversion 18451855

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)

Additional Variant Information for BACE2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BACE2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
  • trisomy 21
alzheimer disease
  • ad
myositis
  • myopathy, familial idiopathic inflammatory; iim
anemia, congenital dyserythropoietic, type ib
  • cdan1b
cerebral amyloid angiopathy, app-related
  • amyloidosis, cerebroarterial, app-related
- elite association - COSMIC cancer census association via MalaCards
Search BACE2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BACE2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Cytogenetics and cell genetics 2000) 2 3 4 23
  2. 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 research 2009) 3 23 41
  3. Reticulons RTN3 and RTN4-B/C interact with BACE1 and inhibit its ability to produce amyloid beta-protein. (PMID: 16965550) Murayama KS … Araki W (The European journal of neuroscience 2006) 3 4 23
  4. BACE2, as a novel APP theta-secretase, is not responsible for the pathogenesis of Alzheimer's disease in Down syndrome. (PMID: 16816112) Sun X … Song W (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2006) 3 4 23
  5. Crystal structure of human BACE2 in complex with a hydroxyethylamine transition-state inhibitor. (PMID: 16305800) Ostermann N … Gerhartz B (Journal of molecular biology 2006) 3 4 23

Products for BACE2 Gene

  • Signalway ELISA kits for BACE2
  • Signalway Proteins for BACE2

Sources for BACE2 Gene