Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
351
Gene name Gene Name - the full gene name approved by the HGNC.
Amyloid beta precursor protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APP
Synonyms (NCBI Gene) Gene synonyms aliases
AAA, ABETA, ABPP, AD1, APPI, CTFgamma, CVAP, PN-II, PN2, alpha-sAPP, preA4
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 transcriptio
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs63749810 C>T Pathogenic, not-provided Genic downstream transcript variant, coding sequence variant, missense variant
rs63749964 A>C Pathogenic, not-provided Genic downstream transcript variant, coding sequence variant, missense variant
rs63750064 C>G,T Not-provided, likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs63750066 C>T Pathogenic, uncertain-significance, likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs63750264 C>A,G,T Pathogenic, not-provided Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001935 hsa-miR-106a-5p Luciferase reporter assay 18684319
MIRT001935 hsa-miR-106a-5p Western blot 18684319
MIRT001934 hsa-miR-520c-3p Luciferase reporter assay 18684319
MIRT001934 hsa-miR-520c-3p Western blot 18684319
MIRT001935 hsa-miR-106a-5p qRT-PCR 18684319
Transcription factors
Transcription factor Regulation Reference
CTCF Activation 11706010;9407128
CTCF Repression 11706010
ETS2 Unknown 12890557
HDAC9 Unknown 20145244
JUN Unknown 8015372
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IGI 21803450
GO:0001664 Function G protein-coupled receptor binding IPI 11316806
GO:0001774 Process Microglial cell activation IDA 18723082
GO:0001774 Process Microglial cell activation IGI 15457210, 22406537
GO:0001878 Process Response to yeast IMP 20209079
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
104760 620 ENSG00000142192
Protein
UniProt ID P05067
Protein name Amyloid-beta precursor protein (APP) (ABPP) (APPI) (Alzheimer disease amyloid A4 protein homolog) (Alzheimer disease amyloid protein) (Amyloid precursor protein) (Amyloid-beta (A4) precursor protein) (Amyloid-beta A4 protein) (Cerebral vascular amyloid pe
Protein function Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Interaction between APP molecules on neighboring cells promotes synaptogenesis (P
PDB 1AAP , 1AMB , 1AMC , 1AML , 1BA4 , 1BA6 , 1BJB , 1BJC , 1BRC , 1CA0 , 1HZ3 , 1IYT , 1MWP , 1OWT , 1QCM , 1QWP , 1QXC , 1QYT , 1TAW , 1TKN , 1X11 , 1Z0Q , 1ZE7 , 1ZE9 , 1ZJD , 2BEG , 2BP4 , 2FJZ , 2FK1 , 2FK2 , 2FK3 , 2FKL , 2FMA , 2G47 , 2IPU , 2LFM , 2LLM , 2LMN , 2LMO , 2LMP , 2LMQ , 2LNQ , 2LOH , 2LP1 , 2LZ3 , 2LZ4 , 2M4J , 2M9R , 2M9S , 2MGT , 2MJ1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02177 APP_N 31 131 Amyloid A4 N-terminal heparin-binding Domain
PF12924 APP_Cu_bd 132 188 Copper-binding of amyloid precursor, CuBD Domain
PF00014 Kunitz_BPTI 290 342 Kunitz/Bovine pancreatic trypsin inhibitor domain Domain
PF12925 APP_E2 366 548 E2 domain of amyloid precursor protein Domain
PF03494 Beta-APP 675 713 Beta-amyloid peptide (beta-APP) Family
PF10515 APP_amyloid 716 766 Beta-amyloid precursor protein C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain and in cerebrospinal fluid (at protein level) (PubMed:2649245). Expressed in all fetal tissues examined with highest levels in brain, kidney, heart and spleen. Weak expression in liver. In adult brain, highest ex
Sequence
Sequence length 770
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Serotonergic synapse
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
  Platelet degranulation
ECM proteoglycans
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
G alpha (q) signalling events
G alpha (i) signalling events
Lysosome Vesicle Biogenesis
Formyl peptide receptors bind formyl peptides and many other ligands
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
The NLRP3 inflammasome
Advanced glycosylation endproduct receptor signaling
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
Post-translational protein phosphorylation
TRAF6 mediated NF-kB activation
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
Purinergic signaling in leishmaniasis infection
Amyloid fiber formation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
alzheimer disease Alzheimer disease rs63750851, rs63750734, rs63750671, rs63751039, rs281865161, rs63750973, rs63749810, rs63750579, rs63750066, rs63750643, rs63750264, rs193922916 N/A
Alzheimer disease alzheimer disease type 1, Primary degenerative dementia of the Alzheimer type, presenile onset rs63749964, rs63750671, rs63751039, rs281865161, rs63750973, rs63750066, rs63750643, rs63750264, rs63750399, rs63750734 N/A
Cerebral amyloid angiopathy cerebral amyloid angiopathy, app-related rs63750579, rs63750066, rs63750921, rs63750264 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lymphocytic Leukemia Chronic lymphocytic leukemia N/A N/A GWAS
vascular dementia Vascular dementia N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 10956649, 12480937, 12787077, 15257727, 17170111, 1837142, 18508486, 20228223, 21681798, 21832091, 23415897, 23505467, 23790381, 24028142, 24140343
View all (34 more)
AA amyloidosis Stimulate 17332749, 17653279, 24936411, 32250387, 32385803, 34593890
AA amyloidosis Inhibit 29164798, 33933117, 35862308
Acquired Immunodeficiency Syndrome Associate 19706884, 8403502
Acute cholinergic dysautonomia Associate 25732182
Acute Coronary Syndrome Associate 39824235
Acute Disease Associate 32385803
Adrenal Cortex Diseases Stimulate 31437719
AIDS Associated Nephropathy Associate 23018443
Albinism Oculocutaneous Associate 21408230