Version: 8.0.0Date: Tue Jan 28 2025
Gene
APP
- Species
- Homo sapiens
- Symbol
- APP
- Name
- amyloid beta precursor protein
- Synonyms
- AAA
- ABETA
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including PTB domain binding activity; protein dimerization activity; and signaling receptor binding activity. Involved in several processes, including modulation of chemical synaptic transmission; positive regulation of metabolic process; and regulation of signal transduction. Acts upstream of with a positive effect on phospholipase D-activating G protein-coupled receptor signaling pathway. Acts upstream of or within regulation of gene expression. Located in several cellular components, including cytoplasmic vesicle; dendrite; and nuclear envelope lumen. Part of several cellular components, including amyloid-beta complex; low-density lipoprotein particle; and triglyceride-rich plasma lipoprotein particle. Is active in dendrite and extracellular space. Implicated in APP-related cerebral amyloid angiopathy; Alzheimer's disease; Alzheimer's disease 1; cognitive disorder; and traumatic brain injury. Biomarker of Alzheimer's disease; obesity; and periodontitis.
- RGD Description
- This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR23103
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr21:25880535...26171128 - (290.59 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.