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Gene Gene information from NCBI Gene database.
Entrez ID 351
Gene name Amyloid beta precursor protein
Gene symbol APP
Synonyms (NCBI Gene)
AAAABETAABPPAD1APPICTFgammaCVAPPN-IIPN2alpha-sAPPpreA4
Chromosome 21
Chromosome location 21q21.3
Summary 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.
17 Show/Hide all (17)
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.
841 Show/Hide all (841)
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 factors information provided by TRRUST V2 database.
11 Show/Hide all (11)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
298 Show/Hide all (298)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
104760 620 ENSG00000142192
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
PF00014 Kunitz_BPTI 290 → 342 Kunitz/Bovine pancreatic trypsin inhibitor domain Domain
PF02177 APP_N 31 → 131 Amyloid A4 N-terminal heparin-binding Domain
PF03494 Beta-APP 675 → 713 Beta-amyloid peptide (beta-APP) Family
PF10515 APP_amyloid 716 → 766 Beta-amyloid precursor protein C-terminus Family
PF12924 APP_Cu_bd 132 → 188 Copper-binding of amyloid precursor, CuBD Domain
PF12925 APP_E2 366 → 548 E2 domain of amyloid precursor protein Domain
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 Pathway Reactome Pathway
Serotonergic synapse Platelet degranulation
Alzheimer disease ECM proteoglycans
Pathways of neurodegeneration - multiple diseases 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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
74
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Show/Hide Causal Diseases (11)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ABeta amyloidosis, Arctic type Pathogenic rs63751039 RCV000019726
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABeta amyloidosis, dutch type Pathogenic rs63750579 RCV000019713
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABeta amyloidosis, Iowa type Pathogenic rs63749810 RCV000019729
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABeta amyloidosis, Italian type Pathogenic rs63750579 RCV000019727
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABetaA21G amyloidosis Pathogenic rs63750671 RCV000019717
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (63)
Phenotype Name Clinical Significance Source Reference Evidence Score
ABETAL34V AMYLOIDOSIS — GWAS catalog 16178030
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE, FAMILIAL, 1 — Disgenet, HPO
Disgenet, HPO
—
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer disease, protection against Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMNESIA — CTD, Disgenet
CTD, Disgenet
12642396
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (533)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ABeta amyloidosis, Arctic type Cerebral amyloid angiopathy Orphanet
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABeta amyloidosis, Dutch type Cerebral amyloid angiopathy Orphanet
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABeta amyloidosis, Iowa type Cerebral amyloid angiopathy Orphanet
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABeta amyloidosis, Italian type Cerebral amyloid angiopathy Orphanet
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABetaA21G amyloidosis Cerebral amyloid angiopathy Orphanet
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABetaL34V amyloidosis Cerebral amyloid angiopathy Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 12192006, 12572668, 12746438, 12852432, 1497677, 15590663, 15591071, 15993441, 16204253, 16266835, 16325427, 16492752, 16651627, 1671712, 1678058
View all (20 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 18623069
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 31138460
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29387243
★★★★★
★☆☆☆☆
Found in Text Mining only