APP

amyloid beta precursor protein

Nominated Target, Selected for Target Enabling Resource Development

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

Biological Domains

APP Metabolism, Apoptosis, Cell Cycle, Endolysosome, Epigenetic, Immune Response, Lipid Metabolism, Metal Binding and Homeostasis, Mitochondrial Metabolism, Oxidative Stress, Proteostasis, Structural Stabilization, Synapse, Tau Homeostasis, Vasculature

Pharos Class

Tclin

Also known as

ENSG00000142192 (Ensembl Release 115)

UNIPROTKB P05067

AAA, ABETA, ABPP, AD1, APPI, CTFgamma, CVAP, PN-II, PN2, alpha-sAPP, preA4

Summary of Evidence

This tab shows an overview of how the selected gene is associated with AD.

  • Genetic Association with LOAD

    Indicates whether or not this gene shows significant genetic association with Late Onset AD (LOAD) based on evidence from multiple studies compiled by the ADSP Gene Verification Committee
    True

  • Brain eQTL

    Indicates whether or not this gene locus has a significant expression Quantitative Trait Locus (eQTL) based on an AMP-AD consortium study
    True

  • RNA Expression Change in AD Brain

    Indicates whether or not this gene shows significant differential expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.
    True

  • Protein Expression Change in AD Brain

    Indicates whether or not this gene shows significant differential protein expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.
    True

  • Nominated Target

    Indicates whether or not this gene has been submitted as a nominated target to Agora.
    True

AD Risk Scores

About AD Risk Scores

The TREAT-AD Center at Emory-Sage-SGC has developed a Target Risk Score (TRS) to objectively rank the potential involvement of specific genes in AD. The TRS is derived by summing two component risk scores, the Genetic Risk Score and the Multi-omic Risk Score, each of which is derived from a meta-analysis of multiple harmonized data sets. More information about the methodology used to define these risk scores is available here.

AD Risk Scores for APP

The TRS for APP, along with the component Genetic and Multi-omic Risk Scores, is shown here. The scores for APP are superimposed on the genome-wide score distributions. If No Data is Currently Available is displayed for a score, that score was not calculated for APP.

Biological Domain Classification

About Biological Domains

A biological domain represents a standardized area of biology defined by a set of discrete, biologically coherent GO terms. The TREAT-AD Center at Emory-Sage-SGC has defined nineteen biological domains associated with AD, and objectively mapped genes to those biological domains using GO term annotations. More information about the methodology used to define AD biological domains, and to generate genome-wide biological domain mappings, is available here.

Biological Domains for APP

Select a biological domain on the left to see the list of GO terms that link APP to it on the right. The percentage value displayed next to the currently selected biological domain indicates the proportion of APP's total unique GO terms that map to the biological domain. The ratio displayed on the right indicates how many of the biological domain's total GO terms APP is annotated with.