Property Summary

NCBI Gene PubMed Count 55
PubMed Score 112.34
PubTator Score 205.14

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count
Down syndrome 548
Muscle Weakness 92
Disease Target Count P-value
malignant mesothelioma 3163 7.96761503574166E-10
pituitary cancer 1972 4.4366159282158E-9
ulcerative colitis 2087 1.76679956797358E-8
ovarian cancer 8492 1.66349798536714E-7
interstitial cystitis 2299 1.19112539939022E-6
posterior fossa group A ependymoma 1511 4.62893552586926E-6
cystic fibrosis 1670 7.99830032735818E-6
nasopharyngeal carcinoma 1056 5.05787146678335E-5
intraductal papillary-mucinous carcinoma (IPMC) 2988 5.19301572774724E-4
lung adenocarcinoma 2714 6.8168619736851E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00183728313504677
active Crohn's disease 918 0.00193596054755046
pancreatic cancer 2300 0.00198654766636089
pediatric high grade glioma 2712 0.00261376896129535
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00294625356396155
X-linked cerebral adrenoleukodystrophy 115 0.00312797283072029
glioblastoma 5572 0.00348185880745916
medulloblastoma, large-cell 6234 0.00578480125465121
subependymal giant cell astrocytoma 2287 0.019332684579668
group 3 medulloblastoma 2254 0.0265253984977625
osteosarcoma 7933 0.0275406124955712
pancreatic ductal adenocarcinoma liver metastasis 1795 0.0458663335544053
spina bifida 1064 0.0482084816816309
Disease Target Count Z-score Confidence
Alzheimer's disease 644 5.112 2.6

Expression

Synonym

Accession Q9Y5Z0 A8K7P1 Q5DIH8 Q8N2D4 Q9H2V8 Q9NZL1 Q9NZL2 Q9UJT6
Symbols ASP1
BAE2
DRAP
AEPLC
ALP56
ASP21
CDA13
CEAP1

Gene

PANTHER Protein Class (3)

PDB

2EWY   3ZKG   3ZKI   3ZKM   3ZKN   3ZKQ   3ZKS   3ZKX   3ZL7   3ZLQ   4BEL   4BFB  

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid

Gene RIF (37)

PMID Text
27100087 RNA-seq evidence of biallelic expression of BACE2 and 10 neighboring genes in at least one primary human tissue tested indicates that the expression of BACE2 is uncoupled from the control of the maternally inherited 5mCpG imprints at the WRB differentially methylated region (DMR) in disomic controls or trisomy (Down syndrome) individuals.
26427429 Studies suggest that beta-Secretases BACE1/2 plays an important role in retinal homeostasis and that BACE upregulation in response to stress is a protective measure.
25254246 Data suggest that the amino acid residues would be essential for selectivity of beta-amyloid precursor protein cleavage enzymes BACE1 and BACE2 functions and could be sites for the design of selective inhibitors targeting either BACE1 or BACE2.
24312169 HIV-1 Tat recruits APP into lipid rafts to facilitate the processing of APP by beta-secretase, which leads to increased levels of ABeta42 in HIV-1 infected U-87 MG cells
23903356 Data identified two novel genome-wide significant associations: 2-h plasma glucose and HKDC1, and fasting C-peptide and BACE2.
23754390 BACE2 cleaves the integral membrane form of PMEL within the juxtamembrane domain, releasing the PMEL luminal domain into endosomal precursors for the formation of amyloid fibrils and downstream melanosome morphogenesis.
23324234 Inhibiting Chrna7 expression markedly stimulated the production of Abeta through the mechanism of increased expression of BACE1 and inhibited expression of BACE2 in SH-SY5Y cells.
22986058 BACE2 overexpression in cultured cells was found to lower net amyloid ss-protein levels.
20943756 All these data point to a role for BACE2 in the IRbeta trafficking and insulin signaling. In conclusion, BACE2 is hereby presented as an important enzyme in beta-cell function.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
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AA Sequence

MGALARALLLPLLAQWLLRAAPELAPAPFTLPLRVAAATNRVVAPTPGPGTPAERHADGLALALEPALAS      1 - 70
PAGAANFLAMVDNLQGDSGRGYYLEMLIGTPPQKLQILVDTGSSNFAVAGTPHSYIDTYFDTERSSTYRS     71 - 140
KGFDVTVKYTQGSWTGFVGEDLVTIPKGFNTSFLVNIATIFESENFFLPGIKWNGILGLAYATLAKPSSS    141 - 210
LETFFDSLVTQANIPNVFSMQMCGAGLPVAGSGTNGGSLVLGGIEPSLYKGDIWYTPIKEEWYYQIEILK    211 - 280
LEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAVVEAVARASLIPEFSDGFWTGSQLACWTNSET    281 - 350
PWSYFPKISIYLRDENSSRSFRITILPQLYIQPMMGAGLNYECYRFGISPSTNALVIGATVMEGFYVIFD    351 - 420
RAQKRVGFAASPCAEIAGAAVSEISGPFSTEDVASNCVPAQSLSEPILWIVSYALMSVCGAILLVLIVLL    421 - 490
LLPFRCQRRPRDPEVVNDESSLVRHRWK                                              491 - 518
//

Text Mined References (55)

PMID Year Title
27100087 2016 Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.
26427429 2016 A Non-Canonical Role for ?-Secretase in the Retina.
25254246 2014 Amino acid sequence and structural comparison of BACE1 and BACE2 using evolutionary trace method.
25201988 2014 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
23903356 2013 Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
23754390 2013 BACE2 processes PMEL to form the melanosome amyloid matrix in pigment cells.
23324234 2012 [Influence of inhibited ?7 nicotinic acetylcholine receptor gene expression on the production of ?-amyloid peptide in SH-SY5Y cells].
22986058 2012 Identification of BACE2 as an avid ß-amyloid-degrading protease.
21907142 2011 Bace2 is a ? cell-enriched protease that regulates pancreatic ? cell function and mass.
20943756 2010 BACE2 plays a role in the insulin receptor trafficking in pancreatic ß-cells.
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