Gene Gene information from NCBI Gene database.
Entrez ID 25825
Gene name Beta-secretase 2
Gene symbol BACE2
Synonyms (NCBI Gene)
AEPLCALP56ASP1ASP21BAE2CDA13CEAP1DRAP
Chromosome 21
Chromosome location 21q22.2-q22.3
Summary 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.
561
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Unknown 15857888
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0004190 Function Aspartic-type endopeptidase activity IDA 10591213
GO:0004190 Function Aspartic-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 26840340, 32814053
GO:0005768 Component Endosome IBA
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605668 934 ENSG00000182240
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BACE2-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 12802606
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 12802606
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 10656108
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 10931940, 15492223, 24462566, 31270419, 32566665, 33633844 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 22074738 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 32647257 Inhibit
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset Alzheimer disease BEFREE 9098524
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 16023140, 31270419
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 22986058
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 10838186, 12611455, 28887200
★☆☆☆☆
Found in Text Mining only