APP (amyloid beta precursor protein)

2007-02-01  

Identity

HGNC
LOCATION
21q21.3
LOCUSID
ALIAS
AAA,ABETA,ABPP,AD1,APPI,CTFgamma,CVAP,PN-II,PN2,alpha-sAPP,preA4
FUSION GENES

Other Information

Locus ID:

NCBI: 351
MIM: 104760
HGNC: 620
Ensembl: ENSG00000142192

Variants:

dbSNP: 351
ClinVar: 351
TCGA: ENSG00000142192
COSMIC: APP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142192ENST00000346798P05067
ENSG00000142192ENST00000346798A0A140VJC8
ENSG00000142192ENST00000348990P05067
ENSG00000142192ENST00000354192P05067
ENSG00000142192ENST00000357903P05067
ENSG00000142192ENST00000358918P05067
ENSG00000142192ENST00000359726A0A0A0MRG2
ENSG00000142192ENST00000415997H7C2L2
ENSG00000142192ENST00000439274E9PG40
ENSG00000142192ENST00000440126P05067
ENSG00000142192ENST00000448850H7C0V9

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Alzheimer's diseaseKEGGko05010
Alzheimer's diseaseKEGGhsa05010
Serotonergic synapseKEGGhsa04726
Metabolism of proteinsREACTOMER-HSA-392499
DiseaseREACTOMER-HSA-1643685
Amyloid fiber formationREACTOMER-HSA-977225
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 10 (TLR10) CascadeREACTOMER-HSA-168142
MyD88 cascade initiated on plasma membraneREACTOMER-HSA-975871
TAK1 activates NFkB by phosphorylation and activation of IKKs complexREACTOMER-HSA-445989
Toll Like Receptor 3 (TLR3) CascadeREACTOMER-HSA-168164
MyD88-independent TLR3/TLR4 cascadeREACTOMER-HSA-166166
TRIF-mediated TLR3/TLR4 signalingREACTOMER-HSA-937061
Toll Like Receptor 5 (TLR5) CascadeREACTOMER-HSA-168176
Toll Like Receptor 7/8 (TLR7/8) CascadeREACTOMER-HSA-168181
MyD88 dependent cascade initiated on endosomeREACTOMER-HSA-975155
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activationREACTOMER-HSA-975138
Toll Like Receptor 9 (TLR9) CascadeREACTOMER-HSA-168138
Toll Like Receptor 4 (TLR4) CascadeREACTOMER-HSA-166016
Activated TLR4 signallingREACTOMER-HSA-166054
MyD88:Mal cascade initiated on plasma membraneREACTOMER-HSA-166058
Toll Like Receptor 2 (TLR2) CascadeREACTOMER-HSA-181438
Toll Like Receptor TLR1:TLR2 CascadeREACTOMER-HSA-168179
Toll Like Receptor TLR6:TLR2 CascadeREACTOMER-HSA-168188
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysREACTOMER-HSA-168643
InflammasomesREACTOMER-HSA-622312
The NLRP3 inflammasomeREACTOMER-HSA-844456
Advanced glycosylation endproduct receptor signalingREACTOMER-HSA-879415
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathwaysREACTOMER-HSA-168928
TRAF6 mediated NF-kB activationREACTOMER-HSA-933542
Cytosolic sensors of pathogen-associated DNAREACTOMER-HSA-1834949
ZBP1(DAI) mediated induction of type I IFNsREACTOMER-HSA-1606322
RIP-mediated NFkB activation via ZBP1REACTOMER-HSA-1810476
DEx/H-box helicases activate type I IFN and inflammatory cytokines productionREACTOMER-HSA-3134963
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276
Formyl peptide receptors bind formyl peptides and many other ligandsREACTOMER-HSA-444473
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594
G alpha (q) signalling eventsREACTOMER-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Lysosome Vesicle BiogenesisREACTOMER-HSA-432720
Neurodegenerative DiseasesREACTOMER-HSA-8863678
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease modelsREACTOMER-HSA-8862803

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
185680352008Amyloid-beta protein dimers isolated directly from Alzheimer's brains impair synaptic plasticity and memory.1322
119327452002Naturally secreted oligomers of amyloid beta protein potently inhibit hippocampal long-term potentiation in vivo.1280
127028752003Common structure of soluble amyloid oligomers implies common mechanism of pathogenesis.1198
165410762006A specific amyloid-beta protein assembly in the brain impairs memory.994
173609082007Natural oligomers of the Alzheimer amyloid-beta protein induce reversible synapse loss by modulating an NMDA-type glutamate receptor-dependent signaling pathway.589
211483442010Decreased clearance of CNS beta-amyloid in Alzheimer's disease.585
126704222003APP processing and synaptic function.567
192424752009Cellular prion protein mediates impairment of synaptic plasticity by amyloid-beta oligomers.543
228015012012A mutation in APP protects against Alzheimer's disease and age-related cognitive decline.516
156535062005Self-propagating, molecular-level polymorphism in Alzheimer's beta-amyloid fibrils.511

Citation

Dessen P

APP (amyloid beta precursor protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45541/app