• Gene id: 25825

Gene Summary

• Gene Symbol: BACE2   Gene   UCSC   Ensembl
• Aliases: AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP
• Gene name: beta-secretase 2
• Alternate names: beta-secretase 2, 56 kDa aspartic-like protease, Down syndrome region aspartic protease, SLCO3A1/BACE2 fusion, aspartyl protease 1, beta-site APP-cleaving enzyme 2, beta-site amyloid beta A4 precursor protein-cleaving enzyme 2, memapsin-1, membrane-associated asp,
• Gene location: 21q22.2-q22.3 (41168159: 41282529)     Exons: 5     NC_000021.9
• Gene summary(Entrez): 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.
• OMIM: 605668

Protein Summary

• Protein general information: Q9Y5Z0  
  • Name: Beta secretase 2 (EC 3.4.23.45) (Aspartic like protease 56 kDa) (Aspartyl protease 1) (ASP1) (Asp 1) (Beta site amyloid precursor protein cleaving enzyme 2) (Beta site APP cleaving enzyme 2) (Down region aspartic protease) (DRAP) (Memapsin 1) (Membrane as
  • Length: 518  
  • Mass: 56180
  • 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 an
• Sequence:

  MGALARALLLPLLAQWLLRAAPELAPAPFTLPLRVAAATNRVVAPTPGPGTPAERHADGLALALEPALASPAGAA
  NFLAMVDNLQGDSGRGYYLEMLIGTPPQKLQILVDTGSSNFAVAGTPHSYIDTYFDTERSSTYRSKGFDVTVKYT
  QGSWTGFVGEDLVTIPKGFNTSFLVNIATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIP
  NVFSMQMCGAGLPVAGSGTNGGSLVLGGIEPSLYKGDIWYTPIKEEWYYQIEILKLEIGGQSLNLDCREYNADKA
  IVDSGTTLLRLPQKVFDAVVEAVARASLIPEFSDGFWTGSQLACWTNSETPWSYFPKISIYLRDENSSRSFRITI
  LPQLYIQPMMGAGLNYECYRFGISPSTNALVIGATVMEGFYVIFDRAQKRVGFAASPCAEIAGAAVSEISGPFST
  EDVASNCVPAQSLSEPILWIVSYALMSVCGAILLVLIVLLLLPFRCQRRPRDPEVVNDESSLVRHRWK

• Structural information:
  • Protein Domains: (92..42-)
    (/note="Peptidase-A1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01103"-)
  • Interpro: IPR001461  IPR001969  IPR009119  IPR009121  IPR033874   IPR033121  IPR021109  
  • Prosite: PS00141 PS51767
  • CDD: cd05473
  • PDB: 2EWY 3ZKG 3ZKI 3ZKM 3ZKN 3ZKQ 3ZKS 3ZKX 3ZL7 3ZLQ 4BEL 4BFB 6JSZ
  • PDBsum: 2EWY 3ZKG 3ZKI 3ZKM 3ZKN 3ZKQ 3ZKS 3ZKX 3ZL7 3ZLQ 4BEL 4BFB 6JSZ
  • STRING: ENSP00000332979
• Other Databases: GeneCards:  BACE2  Malacards:  BACE2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004190	aspartic-type endopeptidase activity	IBA	molecular function
GO:0005768	endosome	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0006508	proteolysis	IBA	biological process
GO:0006509	membrane protein ectodomain proteolysis	IBA	biological process
GO:0050435	amyloid-beta metabolic process	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0030163	protein catabolic process	IBA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006509	membrane protein ectodomain proteolysis	IMP	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0031045	dense core granule	IEA	cellular component
GO:0048143	astrocyte activation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006509	membrane protein ectodomain proteolysis	IDA	biological process
GO:0004190	aspartic-type endopeptidase activity	IDA	molecular function
GO:0042985	negative regulation of amyloid precursor protein biosynthetic process	IMP	biological process
GO:0006508	proteolysis	NAS	biological process
GO:0016486	peptide hormone processing	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease

Diseases

Associated diseases	References
Alzheimer's disease	PMID:22074738
Alzheimer's disease	PMID:16023140
Frontotemporal dementia	PMID:22074738
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq