APP (amyloid beta precursor protein)

2007-02-01  

Identity

HGNC
APP
LOCATION
21q21.3
LOCUSID
351
ALIAS
AAA,ABETA,ABPP,AD1,APPI,CTFgamma,CVAP,PN-II,PN2,alpha-sAPP,preA4
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
373078342024Amyloid Precursor Protein: A Regulatory Hub in Alzheimer's Disease.6
375581612024Physical activity and amyloid beta in middle-aged and older adults: A systematic review and meta-analysis.2
376334692024Abnormal interaction of Rlip with mutant APP/Abeta and phosphorylated tau reduces wild-type Rlip levels and disrupt Rlip function in Alzheimer's disease.0
376525602024The molecular spectrum of amyloid-beta (Aβ) in neurodegenerative diseases beyond Alzheimer's disease.3
376796102024Capillary dysfunction in healthy elderly APOE ε4 carriers with raised brain Aβ deposition.0
378011392024Integrating TSPO PET imaging and transcriptomics to unveil the role of neuroinflammation and amyloid-β deposition in Alzheimer's disease.3
378209382024Arrangement of lipid vesicles and bicelle-like structures formed in the presence of Aβ(25-35) peptide.0
378796232024Associations Between Blood Nutritional Biomarkers and Cerebral Amyloid-β: Insights From the COGFRAIL Cohort Study.0
380131212024GDP dissociation inhibitor 1 (GDI1) attenuates β-amyloid-induced neurotoxicity in Alzheimer's diseases.0
380863892024APOE3ch alters microglial response and suppresses Aβ-induced tau seeding and spread.9
381036302024Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation.0
381233622024Spatiotemporal Correlation between Amyloid and Tau Accumulations Underlies Cognitive Changes in Aging.0
382116842024Potential links between platelets and amyloid-β in the pathogenesis of Alzheimer's disease: Evidence from in vitro, in vivo, and clinical studies.0
382175962024Interaction Between Arteriosclerosis and Amyloid-β on Cognitive Function.0
382446522024Amyloid-β deposits in human astrocytes contain truncated and highly resistant proteoforms.0

Citation

Dessen P

APP (amyloid beta precursor protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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