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BACE2 (beta-secretase 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25825
Gene nameGene Name - the full gene name approved by the HGNC.
Beta-secretase 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
BACE2
SynonymsGene synonyms aliases
AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP
ChromosomeChromosome number
21
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.2-q22.3
SummarySummary of gene provided in NCBI Entrez 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.
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT042142 hsa-miR-484 CLASH 23622248
MIRT720351 hsa-miR-6504-5p HITS-CLIP 19536157
MIRT720350 hsa-miR-3064-5p HITS-CLIP 19536157
MIRT720349 hsa-miR-6800-3p HITS-CLIP 19536157
MIRT720348 hsa-miR-3183 HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
SP1 Unknown 15857888
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004190 Function Aspartic-type endopeptidase activity IDA 10591213
GO:0005515 Function Protein binding IPI 26840340, 32814053
GO:0005768 Component Endosome IBA 21873635
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005794 Component Golgi apparatus IDA 11423558
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9Y5Z0
Protein 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
Protein 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-
PDB 2EWY , 3ZKG , 3ZKI , 3ZKM , 3ZKN , 3ZKQ , 3ZKS , 3ZKX , 3ZL7 , 3ZLQ , 4BEL , 4BFB , 6JSZ , 6UJ0 , 6UJ1 , 7D5B , 7D5U , 7F1G , 7N4N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00026 Asp
91 431
Eukaryotic aspartyl protease
Family
Sequence
Sequence length 518
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Alzheimer disease  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 31374203

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