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APP (amyloid beta (A4) precursor protein)

Identity

Other namesAAA
ABETA
ABPP
AD1
APPI
CTFgamma
CVAP
PN-II
PN2
HGNC (Hugo) APP
LocusID (NCBI) 351
Atlas_Id 45541
Location 21q21.3
Location_base_pair Starts at 27252861 and ends at 27543138 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2015)
APP 21q21.3 / EEA1 12q22APP 21q21.3 / RCAN1 21q22.12APP 21q21.3 / SEC63 6q21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)APP   620
Cards
Entrez_Gene (NCBI)APP  351  amyloid beta (A4) precursor protein
GeneCards (Weizmann)APP
Ensembl hg19 (Hinxton)ENSG00000142192 [Gene_View]  chr21:27252861-27543138 [Contig_View]  APP [Vega]
Ensembl hg38 (Hinxton)ENSG00000142192 [Gene_View]  chr21:27252861-27543138 [Contig_View]  APP [Vega]
ICGC DataPortalENSG00000142192
TCGA cBioPortalAPP
AceView (NCBI)APP
Genatlas (Paris)APP
WikiGenes351
SOURCE (Princeton)APP
Genomic and cartography
GoldenPath hg19 (UCSC)APP  -     chr21:27252861-27543138 -  21q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)APP  -     21q21.3   [Description]    (hg38-Dec_2013)
EnsemblAPP - 21q21.3 [CytoView hg19]  APP - 21q21.3 [CytoView hg38]
Mapping of homologs : NCBIAPP [Mapview hg19]  APP [Mapview hg38]
OMIM104300   104760   605714   
Gene and transcription
Genbank (Entrez)A02759 AB066441 AF282245 AK294534 AK295373
RefSeq transcript (Entrez)NM_000484 NM_001136016 NM_001136129 NM_001136130 NM_001136131 NM_001204301 NM_001204302 NM_001204303 NM_201413 NM_201414
RefSeq genomic (Entrez)NC_000021 NC_018932 NG_007376 NT_011512 NW_004929426
Consensus coding sequences : CCDS (NCBI)APP
Cluster EST : UnigeneHs.434980 [ NCBI ]
CGAP (NCI)Hs.434980
Alternative Splicing : Fast-db (Paris)GSHG0019603
Alternative Splicing GalleryENSG00000142192
Gene ExpressionAPP [ NCBI-GEO ]     APP [ SEEK ]   APP [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)351
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05067 (Uniprot)
NextProtP05067  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05067
Splice isoforms : SwissVarP05067 (Swissvar)
PhosPhoSitePlusP05067
Domaine pattern : Prosite (Expaxy)A4_EXTRA (PS00319)    A4_INTRA (PS00320)    BPTI_KUNITZ_1 (PS00280)    BPTI_KUNITZ_2 (PS50279)   
Domains : Interpro (EBI)Amyloid_glyco    Amyloid_glyco_Abeta    Amyloid_glyco_Cu-bd    Amyloid_glyco_E2_domain    Amyloid_glyco_extra    Amyloid_glyco_extracell_CS    Amyloid_glyco_heparin-bd    Amyloid_glyco_intracell_CS    APP    APP_amyloid_C    Prot_inh_Kunz-m    Prtase_inh_Kunz-CS   
Domain families : Pfam (Sanger)APP_amyloid (PF10515)    APP_Cu_bd (PF12924)    APP_E2 (PF12925)    APP_N (PF02177)    Beta-APP (PF03494)    Kunitz_BPTI (PF00014)   
Domain families : Pfam (NCBI)pfam10515    pfam12924    pfam12925    pfam02177    pfam03494    pfam00014   
Domain families : Smart (EMBL)A4_EXTRA (SM00006)  KU (SM00131)  
DMDM Disease mutations351
Blocks (Seattle)APP
PDB (SRS)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    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    2MPZ    2MVX    2MXU    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ   
PDB (PDBSum)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    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    2MPZ    2MVX    2MXU    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ   
PDB (IMB)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    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    2MPZ    2MVX    2MXU    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ   
PDB (RSDB)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    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    2MPZ    2MVX    2MXU    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ   
Structural Biology KnowledgeBase1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    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    2MPZ    2MVX    2MXU    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ   
SCOP (Structural Classification of Proteins)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    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    2MPZ    2MVX    2MXU    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ   
CATH (Classification of proteins structures)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    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    2MPZ    2MVX    2MXU    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ   
Human Protein AtlasENSG00000142192
Peptide AtlasP05067
HPRD00100
IPIIPI00006608   IPI00394658   IPI00219182   IPI00219183   IPI00412568   IPI00219185   IPI00219186   IPI00219187   IPI00412924   IPI00412681   IPI01014704   IPI00982225   IPI00981582   IPI00914602   
Protein Interaction databases
DIP (DOE-UCLA)P05067
IntAct (EBI)P05067
FunCoupENSG00000142192
BioGRIDAPP
IntegromeDBAPP
STRING (EMBL)APP
ZODIACAPP
Ontologies - Pathways
QuickGOP05067
Ontology : AmiGOresponse to yeast  platelet degranulation  DNA binding  serine-type endopeptidase inhibitor activity  receptor binding  protein binding  extracellular region  extracellular space  nuclear envelope lumen  cytoplasm  cytoplasm  endosome  Golgi apparatus  Golgi apparatus  cytosol  plasma membrane  integral component of plasma membrane  coated pit  mRNA polyadenylation  regulation of translation  protein phosphorylation  cellular copper ion homeostasis  post-Golgi vesicle-mediated transport  endocytosis  cell adhesion  regulation of epidermal growth factor-activated receptor activity  Notch signaling pathway  axonogenesis  blood coagulation  mating behavior  locomotory behavior  axon cargo transport  heparin binding  adult locomotory behavior  visual learning  cell surface  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  positive regulation of peptidase activity  integral component of membrane  axon midline choice point recognition  neuron remodeling  dendrite development  peptidase activator activity  antibacterial humoral response  antifungal humoral response  enzyme binding  platelet activation  extracellular matrix organization  extracellular matrix organization  axon  platelet alpha granule lumen  neuron projection development  endosome lumen  trans-Golgi network membrane  acetylcholine receptor binding  ionotropic glutamate receptor signaling pathway  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  regulation of multicellular organism growth  identical protein binding  terminal bouton  dendritic spine  dendritic shaft  intracellular membrane-bounded organelle  receptor complex  cellular protein metabolic process  innate immune response  innate immune response  membrane raft  synapse  positive regulation of mitotic cell cycle  transition metal ion binding  perinuclear region of cytoplasm  collateral sprouting in absence of injury  regulation of synapse structure or activity  defense response to Gram-negative bacterium  defense response to Gram-positive bacterium  neuron apoptotic process  PTB domain binding  membrane organization  extracellular exosome  growth factor receptor binding  
Ontology : EGO-EBIresponse to yeast  platelet degranulation  DNA binding  serine-type endopeptidase inhibitor activity  receptor binding  protein binding  extracellular region  extracellular space  nuclear envelope lumen  cytoplasm  cytoplasm  endosome  Golgi apparatus  Golgi apparatus  cytosol  plasma membrane  integral component of plasma membrane  coated pit  mRNA polyadenylation  regulation of translation  protein phosphorylation  cellular copper ion homeostasis  post-Golgi vesicle-mediated transport  endocytosis  cell adhesion  regulation of epidermal growth factor-activated receptor activity  Notch signaling pathway  axonogenesis  blood coagulation  mating behavior  locomotory behavior  axon cargo transport  heparin binding  adult locomotory behavior  visual learning  cell surface  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  positive regulation of peptidase activity  integral component of membrane  axon midline choice point recognition  neuron remodeling  dendrite development  peptidase activator activity  antibacterial humoral response  antifungal humoral response  enzyme binding  platelet activation  extracellular matrix organization  extracellular matrix organization  axon  platelet alpha granule lumen  neuron projection development  endosome lumen  trans-Golgi network membrane  acetylcholine receptor binding  ionotropic glutamate receptor signaling pathway  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  regulation of multicellular organism growth  identical protein binding  terminal bouton  dendritic spine  dendritic shaft  intracellular membrane-bounded organelle  receptor complex  cellular protein metabolic process  innate immune response  innate immune response  membrane raft  synapse  positive regulation of mitotic cell cycle  transition metal ion binding  perinuclear region of cytoplasm  collateral sprouting in absence of injury  regulation of synapse structure or activity  defense response to Gram-negative bacterium  defense response to Gram-positive bacterium  neuron apoptotic process  PTB domain binding  membrane organization  extracellular exosome  growth factor receptor binding  
Pathways : BIOCARTAPlatelet Amyloid Precursor Protein Pathway [Genes]    Deregulation of CDK5 in Alzheimers Disease [Genes]    Generation of amyloid b-peptide by PS1 [Genes]   
Pathways : KEGGSerotonergic synapse    Alzheimer's disease   
Protein Interaction DatabaseAPP
Atlas of Cancer Signalling NetworkAPP
Wikipedia pathwaysAPP
Orthology - Evolution
OrthoDB351
GeneTree (enSembl)ENSG00000142192
Phylogenetic Trees/Animal Genes : TreeFamAPP
Homologs : HomoloGeneAPP
Homology/Alignments : Family Browser (UCSC)APP
Gene fusions - Rearrangements
Fusion: TCGAAPP 21q21.3 EEA1 12q22 LGG
Fusion: TCGAAPP 21q21.3 RCAN1 21q22.12 BRCA
Fusion: TCGAAPP 21q21.3 SEC63 6q21 THCA
Polymorphisms : SNP, variants
NCBI Variation ViewerAPP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APP
dbVarAPP
ClinVarAPP
1000_GenomesAPP 
Exome Variant ServerAPP
Exome Aggregation Consortium (ExAC)ENSG00000142192
SNP (GeneSNP Utah)APP
SNP : HGBaseAPP
Genetic variants : HAPMAPAPP
Genomic Variants (DGV)APP [DGVbeta]
Mutations
ICGC Data PortalAPP 
TCGA Data PortalAPP 
Tumor PortalAPP
TCGA Copy Number PortalAPP
Somatic Mutations in Cancer : COSMICAPP 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch APP
DgiDB (Drug Gene Interaction Database)APP
DoCM (Curated mutations)APP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APP (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)21:27252861-27543138
CONAN: Copy Number AnalysisAPP 
Mutations and Diseases : HGMDAPP
OMIM104300    104760    605714   
MedgenAPP
NextProtP05067 [Medical]
TSGene351
GENETestsAPP
Huge Navigator APP [HugePedia]  APP [HugeCancerGEM]
snp3D : Map Gene to Disease351
BioCentury BCIQAPP
General knowledge
Chemical/Protein Interactions : CTD351
Chemical/Pharm GKB GenePA24910
Clinical trialAPP
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPP
GoPubMedAPP
iHOPAPP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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