APLP2 Gene Summary [Human]
This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | APLP2 |
| Official Name | amyloid beta precursor like protein 2 [Source:HGNC Symbol;Acc:HGNC:598] |
| Ensembl ID | ENSG00000084234 |
| Bio databases IDs | |
| Aliases | amyloid beta precursor like protein 2 |
| Synonyms | ALID2, amyloid beta precursor-like protein 2, amyloid β precursor-like protein 2, APPH, APPL2, CDEBP, LOC100363366, LOC64312, WALPLP2, YWK-II |
| 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 APLP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- Kunitz/Bovine pancreatic trypsin inhibitor (BPTI) domain
- JMTM_Notch_APP
- amyloid A4
- carbohydrate recognition domain
- ectodomain
- serine protease inhibitor activity
- Beta-amyloid precursor protein C-terminus
- E2 domain of amyloid precursor protein
- protein binding
- identical protein binding
- Amyloid A4 N-terminal heparin-binding
- Copper-binding of amyloid precursor, CuBD
- NPXY motif
- growth factor domain
- cytoplasmic domain
- copper binding domain
- transmembrane domain
- intracellular domain
- Kunitz-type domain
- Kunitz protease inhibitor domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- ataxia
- dysplasia
- rheumatoid arthritis
- growth failure
- proliferative diabetic retinopathy
- motor neuron disease
- torticollis
role in cell
- expression in
- activation in
- migration
- molecular cleavage in
- quantity
- organization
- transactivation in
- adhesion
- long-term potentiation
- abnormal morphology
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
- synaptic plasma membrane fractions
- membrane fraction
- organelle
- cell surface
- cellular membrane
- Nucleus
- Plasma Membrane
- vesicles
- Golgi Apparatus
- granules
- endoplasmic reticulum lumen
- perinuclear space
- alpha granules
- synaptic vesicles
- neurites
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APLP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system development
- G-protein coupled receptor signaling pathway
- axonogenesis
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- nucleus
- extracellular vesicular exosome
- platelet alpha granule membrane
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- DNA binding
- transition metal ion binding
- identical protein binding
- serine-type endopeptidase inhibitor activity
- protein binding
- heparin binding