BACE2 Gene Summary [Human]
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. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | BACE2 |
| Official Name | beta-secretase 2 [Source:HGNC Symbol;Acc:HGNC:934] |
| Ensembl ID | ENSG00000182240 |
| Bio databases IDs | |
| Aliases | beta-secretase 2, memapsin 1 |
| Synonyms | 1110059C24Rik, AEPLC, ALP56, ARP1, ASP1, ASP21, BAE2, beta-secretase 2, beta-site APP-cleaving enzyme 2, CDA13, CEAP1, DRAP, β-secretase 2, β-site APP-cleaving enzyme 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BACE2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Xylanase inhibitor N-terminal
- peptidase
- aspartic endopeptidase
- protein binding
- cytosolic tail domain
- Cellular and retroviral pepsin-like aspartate proteases
- Xylanase inhibitor C-terminal
- Eukaryotic aspartyl protease
Pathways
Biological processes and signaling networks where the BACE2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metabolic syndrome X
- schizophrenia
- colorectal adenoma formation
- Alzheimer disease
- colorectal adenoma
- systemic lupus erythematosus
- mucopolysaccharidosis, MPS-IV-A
- non-insulin-dependent diabetes mellitus
- cachexia
- Down syndrome
role in cell
- proliferation
- molecular cleavage in
- production in
- organization
- abnormal morphology
- function
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cell surface
- cellular membrane
- Plasma Membrane
- Golgi Apparatus
- trans Golgi network
- endosomal compartment
- melanosomes
- secretory granules
- Golgi vesicles
- cis Golgi cisternae
- trans Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BACE2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- melanosome organization
- membrane protein ectodomain proteolysis
- proteolysis
- glucose homeostasis
- protein processing
- peptide hormone processing
- beta-amyloid metabolic process
- negative regulation of amyloid precursor protein biosynthetic process
Cellular Component
Where in the cell the gene product is active
- melanosome membrane
- trans-Golgi network
- endosome
- membrane
- Golgi apparatus
- endoplasmic reticulum
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- aspartic-type endopeptidase activity
- protein binding