Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25825
Gene name Gene Name - the full gene name approved by the HGNC.
Beta-secretase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BACE2
Synonyms (NCBI Gene) Gene synonyms aliases
AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.2-q22.3
Summary Summary 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.
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605668 934 ENSG00000182240
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
Tissue specificity 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
Sequence length 518
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Alzheimer disease  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
31374203
Unknown
Disease term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Diabetes Diabetes GWAS
Heart Failure Heart Failure GWAS
Associations from Text Mining
Disease Name Relationship Type References
AA amyloidosis Associate 31270419
Alzheimer Disease Associate 10931940, 15492223, 24462566, 31270419, 32566665, 33633844
Alzheimer Disease Stimulate 22074738
Alzheimer Disease Inhibit 32647257
Carcinoma Ovarian Epithelial Inhibit 31158220
Cognitive Dysfunction Associate 22911757, 31270419
Dementia Associate 24462566, 32647257
Diabetes Gestational Associate 36313769
Diabetes Mellitus Type 2 Inhibit 24905913
Down Syndrome Associate 24462566, 28648597, 32647257, 33633844