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：
ClinVar：https://www.clinvar.com/gene/351
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=APP

Gene Ontology (GO)

• GO:0004871 (signal transducer activity) • GO:0005509 (calcium ion binding)
• GO:0007155 (cell adhesion) • GO:0007399 (nervous system development)
• GO:0008233 (peptidase activity) • GO:0042981 (regulation of apoptotic process)

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

Knockout Cell Line
Point Mutation Cell Line
Knock-In Cell Line
Overexpression Cell Line
Knockdown Cell Line
Reporter Cell Line
Knock-in Tag
iPSC Gene Editing

Related Products

Product name Cat.No. Species Gene ID
TRAPPC2 Knockout HeLa Cell Line EDJ-KQ27 Human 6399 Details Get a Quote
APP Knockout HEK293 Cell Line EDC09598 Human 351 Details Get a Quote
PAPPA Knockout HEK293 Cell Line EDJ-KQ4630 Human 5069 Details Get a Quote
TRAPPC10 Knockout HEK293 Cell Line EDJ-KQ5950 Human 7109 Details Get a Quote
APPBP2 Knockout HEK293 Cell Line EDJ-KQ7073 Human 10513 Details Get a Quote
TRAPPC6B Knockout HEK293 Cell Line EDJ-KQ7485 Human 122553 Details Get a Quote
APPL1 Knockout HEK293 Cell Line EDJ-KQ8379 Human 26060 Details Get a Quote
DAPP1 Knockout HEK293 Cell Line EDJ-KQ8667 Human 27071 Details Get a Quote
TRAPPC9 Knockout HEK293 Cell Line EDJ-KQ9890 Human 83696 Details Get a Quote
TRAPPC12 Knockout HEK293 Cell Line EDJ-KQ10924 Human 51112 Details Get a Quote
TRAPPC2L Knockout HEK293 Cell Line EDJ-KQ11191 Human 51693 Details Get a Quote
APPL2 Knockout HEK293 Cell Line EDJ-KQ12397 Human 55198 Details Get a Quote
EAPP Knockout HEK293 Cell Line EDJ-KQ13244 Human 55837 Details Get a Quote
PAPPA2 Knockout HEK293 Cell Line EDJ-KQ13887 Human 60676 Details Get a Quote
TRAPPC3L Knockout HEK293 Cell Line EDJ-KQ15904 Human 100128327 Details Get a Quote
Displaying Records 1 To 15 Of 73 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/351
OMIM https://www.omim.org/entry/104760
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:620
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000142192
UniProt https://www.uniprot.org/uniprot/P05067
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=APP%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=APP
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