APP (Amyloid Beta Precursor Protein) Gene
Key player in Alzheimer's disease pathogenesis and amyloid-beta production
Gene Information Card
| Symbol | APP |
|---|---|
| Full Name | Amyloid Beta Precursor Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 21q21.3 |
| NCBI Gene ID | 351 ncbi.nlm.nih.gov/gene/351 |
| Ensembl ID | ENSG00000142192 |
| UniProt ID | P05067 |
| OMIM ID | 104760 |
| HGNC ID | 620 |
| Aliases | AD1, PN2, ABPP, APP1, CVAP, AAA, CTFgamma |
Description
The APP gene encodes the amyloid beta precursor protein, a transmembrane glycoprotein that is cleaved by secretases to produce amyloid-beta peptides. These peptides aggregate to form amyloid plaques, a hallmark of Alzheimer's disease. APP is also involved in neuronal development, synaptic plasticity, and cell adhesion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | Mutations in APP lead to increased production or aggregation of amyloid-beta peptides, causing plaque formation and neurodegeneration. | ClinVar, OMIM |
| Cerebral amyloid angiopathy | APP mutations promote amyloid-beta deposition in cerebral blood vessels, leading to vascular fragility and hemorrhage. | ClinVar, OMIM |
| Down syndrome | Trisomy 21 results in APP overexpression, causing early-onset Alzheimer's pathology. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 37.2 | High |
| Adrenal gland | 12.5 | Medium |
| Pancreas | 8.1 | Medium |
| Kidney | 6.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.0 | High expression |
| HEK293 (embryonic kidney) | 12.0 | Moderate expression |
| HeLa (cervical carcinoma) | 8.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Val717Ile (V717I) | Missense | Rare | Increased amyloid-beta 42 production |
| p.Ala673Thr (A673T) | Missense | Rare | Protective; reduced amyloid-beta production |
| p.Glu693Gly (E693G) | Missense | Rare | Enhanced aggregation of amyloid-beta |
| p.Asp678Asn (D678N) | Missense | Rare | Increased amyloid-beta production |
Mutation functional classification
Loss of Function (LOF)
Not typically associated with APP; most mutations are gain-of-function or dominant-negative.
Gain of Function (GOF)
Mutations such as V717I increase amyloid-beta 42 production, promoting aggregation.
Dominant Negative (DN)
Some mutations (e.g., A673T) may act in a dominant-negative manner by reducing APP processing.
View complete mutation data：
Gene Ontology (GO)
| • signal transducer activity (GO:0004871) | • calcium ion binding (GO:0005509) |
| • cell adhesion (GO:0007155) | • nervous system development (GO:0007399) |
| • peptidase activity (GO:0008233) | • regulation of apoptotic process (GO:0042981) |
Pathways
• Alzheimer's disease (KEGG: hsa05010)
• Amyloid processing (Reactome: R-HSA-977225)
• Presenilin-mediated gamma-secretase cleavage (Reactome: R-HSA-977223)
Protein Summary
Amyloid beta precursor protein (APP) is a type I transmembrane protein with a large extracellular domain and a short cytoplasmic tail. It undergoes proteolytic processing by alpha-, beta-, and gamma-secretases. The beta-secretase cleavage generates the N-terminus of amyloid-beta, while gamma-secretase cleavage produces peptides of varying lengths (mainly 40 and 42 amino acids). APP is expressed in many tissues but is most abundant in the brain. Its normal functions include synaptic formation, neuronal plasticity, and metal ion homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APP Knockout HEK293 Cell Line | EDC09598 | Human | 351 | Details Get a Quote |
| APPBP2 Knockout HEK293 Cell Line | EDJ-KQ7073 | Human | 10513 | Details Get a Quote |
| APPL1 Knockout HEK293 Cell Line | EDJ-KQ8379 | Human | 26060 | Details Get a Quote |
| APPL2 Knockout HEK293 Cell Line | EDJ-KQ12397 | Human | 55198 | Details Get a Quote |
| APPL2 Knockout A-549 Cell Line | EDJ-KQ41281 | Human | 55198 | Details Get a Quote |
| APPL2 Knockout HCT 116 Cell Line | EDJ-KQ41282 | Human | 55198 | Details Get a Quote |
| APPL2 Knockout HeLa Cell Line | EDJ-KQ41283 | Human | 55198 | Details Get a Quote |
| APP Knockout A-549 Cell Line | EDJ-KQ25351 | Human | 351 | Details Get a Quote |
| APP Knockout HCT 116 Cell Line | EDJ-KQ25352 | Human | 351 | Details Get a Quote |
| APP Knockout HeLa Cell Line | EDJ-KQ25353 | Human | 351 | Details Get a Quote |
| APPBP2 Knockout A-549 Cell Line | EDJ-KQ31898 | Human | 10513 | Details Get a Quote |
| APPBP2 Knockout HCT 116 Cell Line | EDJ-KQ31899 | Human | 10513 | Details Get a Quote |
| APPBP2 Knockout HeLa Cell Line | EDJ-KQ31900 | Human | 10513 | Details Get a Quote |
| APPL1 Knockout A-549 Cell Line | EDJ-KQ34425 | Human | 26060 | Details Get a Quote |
| APPL1 Knockout HCT 116 Cell Line | EDJ-KQ34426 | Human | 26060 | Details Get a Quote |
