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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

APP Gene

protein-coding   GIFtS: 76
GCID: GC21M027252

Amyloid Beta (A4) Precursor Protein

(Previous name: Alzheimer disease)
(Previous symbol: AD1)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Amyloid Beta (A4) Precursor Protein1 2     Alzheimer Disease1
AD11 2 3 5     Human MRNA For Amyloid A4 Precursor Of Alzheimer'S Disease11
CVAP2 3 5     ABETA2
Peptidase Nexin-II1 2     CTFgamma2
Alzheimer Disease Amyloid Protein2 3     PN22
Cerebral Vascular Amyloid Peptide2 3     Amyloid Beta A4 Protein2
Protease Nexin-II2 3     Beta-Amyloid Peptide2
ABPP2 3     preA42
APPI2 3     A43
PN-II2 3     PreA43
AAA2 5     

External Ids:    HGNC: 6201   Entrez Gene: 3512   Ensembl: ENSG000001421927   OMIM: 1047605   UniProtKB: P050673   

Export aliases for APP gene to outside databases

Previous GC identifers: GC21M023831 GC21M026174 GC21M012656


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for APP 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 transcriptional activation, while others form the protein basis of the amyloid plaques
found in the brains of patients with Alzheimer disease. Mutations in this gene have been implicated in autosomal
dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript
variants encoding several different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for APP Gene: 
APP (amyloid beta (A4) precursor protein) is a protein-coding gene. Diseases associated with APP include alzheimer's disease, and cerebritis, and among its related super-pathways are Parkinson's disease and GPCR ligand binding. GO annotations related to this gene include heparin binding and identical protein binding. An important paralog of this gene is APLP2.

UniProtKB/Swiss-Prot: A4_HUMAN, P05067
Function: Functions as a cell surface receptor and performs physiological functions on the surface of neurons
relevant to neurite growth, neuronal adhesion and axonogenesis. Involved in cell mobility and transcription
regulation through protein-protein interactions. Can promote transcription activation through binding to
APBB1-KAT5 and inhibits Notch signaling through interaction with Numb. Couples to apoptosis-inducing pathways
such as those mediated by G(O) and JIP. Inhibits G(o) alpha ATPase activity (By similarity). Acts as a kinesin I
membrane receptor, mediating the axonal transport of beta-secretase and presenilin 1. Involved in copper
homeostasis/oxidative stress through copper ion reduction. In vitro, copper-metallated APP induces neuronal death
directly or is potentiated through Cu(2+)-mediated low-density lipoprotein oxidation. Can regulate neurite
outgrowth through binding to components of the extracellular matrix such as heparin and collagen I and IV. The
splice isoforms that contain the BPTI domain possess protease inhibitor activity. Induces a AGER-dependent
pathway that involves activation of p38 MAPK, resulting in internalization of amyloid-beta peptide and leading to
mitochondrial dysfunction in cultured cortical neurons. Provides Cu(2+) ions for GPC1 which are required for
release of nitric oxide (NO) and subsequent degradation of the heparan sulfate chains on GPC1
Function: Beta-amyloid peptides are lipophilic metal chelators with metal-reducing activity. Bind transient metals
such as copper, zinc and iron. In vitro, can reduce Cu(2+) and Fe(3+) to Cu(+) and Fe(2+), respectively.
Beta-amyloid 42 is a more effective reductant than beta-amyloid 40. Beta-amyloid peptides bind to lipoproteins
and apolipoproteins E and J in the CSF and to HDL particles in plasma, inhibiting metal-catalyzed oxidation of
lipoproteins. Beta-APP42 may activate mononuclear phagocytes in the brain and elicit inflammatory responses.
Promotes both tau aggregation and TPK II-mediated phosphorylation. Interaction with Also bind GPC1 in lipid rafts
Function: Appicans elicit adhesion of neural cells to the extracellular matrix and may regulate neurite outgrowth
in the brain (By similarity)
Function: The gamma-CTF peptides as well as the caspase-cleaved peptides, including C31, are potent enhancers of
neuronal apoptosis
Function: N-APP binds TNFRSF21 triggering caspase activation and degeneration of both neuronal cell bodies (via
caspase-3) and axons (via caspase-6)

summary for APP Gene:
Amyloid beta (Abeta) peptides are the major component of amyloid plaques found in the brains of Alzheimer's
patients. Abeta is formed from the progressive cleavage of amyloid precursor protein (APP) by beta- and
gamma-secretase. Two Abeta peptides are formed from APP degradation; Abeta40 and Abeta42. Abeta40 is the
most abundant form, but Abeta42 is more fibrillogenic, thus is associated with disease states. Mutations in
APP have been linked to early onset Alzheimer's disease, as proteolytic cleavage of the altered protein
increases the levels of Abeta42 relative to Abeta40. Furthermore, Abeta proteins have been associated with
other diseases including Lewy body dementia, inclusion body myositis and cerebral amyloid angiopathy.

Gene Wiki entry for APP (Amyloid precursor protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.2  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the APP gene promoter:
         TBP   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 16): APP promoter sequence

   Search SABiosciences Chromatin IP Primers for APP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q21.3   Ensembl cytogenetic band:  21q21.3   HGNC cytogenetic band: 21q21.2
Nature(405: 311-319) cytogenetic band:   21q21.3
APP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APP gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M027252:   GeneLoc Nature:405,311-319
Start:
27,252,861 bp from pter       12,830,594 bp from centromere
End:
27,543,446 bp from pter 13,120,880 bp from centromere
Size:
290,586 bases 290,287 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: Y00264
genomic clones: pT364 to Q22F1


(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: A4_HUMAN, P05067 (See protein sequence)
Recommended Name: Amyloid beta A4 protein precursor  
Size: 770 amino acids; 86943 Da
Subunit: Binds, via its C-terminus, to the PID domain of several cytoplasmic proteins, including APBB family
members, the APBA family, MAPK8IP1, SHC1 and, NUMB and DAB1 (By similarity). Binding to DAB1 inhibits its serine
phosphorylation (By similarity). Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is
impaired by tyrosine phosphorylation of the NPXY motif. Also interacts with GPCR-like protein BPP, FPRL1, APPBP1,
IB1, KNS2 (via its TPR domains) (By similarity), APPBP2 (via BaSS) and DDB1. In vitro, it binds MAPT via the
MT-binding domains (By similarity). Associates with microtubules in the presence of ATP and in a
kinesin-dependent manner (By similarity). Interacts, through a C-terminal domain, with GNAO1. Amyloid beta-42
binds CHRNA7 in hippocampal neurons. Beta-amyloid associates with HADH2. Soluble APP binds, via its N-terminal
head, to FBLN1. Interacts with CPEB1 and AGER (By similarity). Interacts with ANKS1B and TNFRSF21. Interacts with
ITM2B. Interacts with ITM2C. Interacts with IDE. Can form homodimers; this is promoted by heparin binding.
Beta-amyloid protein 40 interacts with S100A9. CTF-alpha product of APP interacts with GSAP
Subcellular location: Membrane; Single-pass type I membrane protein. Membrane, clathrin-coated pit. Note=Cell
surface protein that rapidly becomes internalized via clathrin-coated pits. During maturation, the immature APP
(N-glycosylated in the endoplasmic reticulum) moves to the Golgi complex where complete maturation occurs
(O-glycosylated and sulfated). After alpha-secretase cleavage, soluble APP is released into the extracellular
space and the C-terminal is internalized to endosomes and lysosomes. Some APP accumulates in secretory transport
vesicles leaving the late Golgi compartment and returns to the cell surface. Gamma-CTF(59) peptide is located to
both the cytoplasm and nuclei of neurons. It can be translocated to the nucleus through association with APBB1
(Fe65). Beta-APP42 associates with FRPL1 at the cell surface and the complex is then rapidly internalized. APP
sorts to the basolateral surface in epithelial cells. During neuronal differentiation, the Thr-743 phosphorylated
form is located mainly in growth cones, moderately in neurites and sparingly in the cell body. Casein kinase
phosphorylation can occur either at the cell surface or within a post-Golgi compartment. Associates with GPC1 in
perinuclear compartments
Mass spectrometry: Mass=6461.6; Method=MALDI; Range=712-767; Source=PubMed:12214090;
Mass spectrometry: Mass=6451.6; Method=MALDI; Range=714-770; Source=PubMed:12214090;
Mass spectrometry: Mass=6436.8; Method=MALDI; Range=715-769; Source=PubMed:12214090;
Mass spectrometry: Mass=5752.5; Method=MALDI; Range=719-767; Source=PubMed:12214090;
Miscellaneous: Chelation of metal ions, notably copper, iron and zinc, can induce histidine-bridging between
beta-amyloid molecules resulting in beta-amyloid-metal aggregates. The affinity for copper is much higher than
for other transient metals and is increased under acidic conditions. Extracellular zinc-binding increases binding
of heparin to APP and inhibits collagen-binding
Sequence caution: Sequence=AAA58727.1; Type=Miscellaneous discrepancy; Note=Contamination by an Alu repeat;
6/83 PDB 3D structures from and Proteopedia for APP (see all 83):
1AAP (3D)        1AMB (3D)        1AMC (3D)        1AML (3D)        1BA4 (3D)        1BA6 (3D)    
Secondary accessions: B2R5V1 B4DII8 D3DSD1 D3DSD2 D3DSD3 P09000 P78438 Q13764 Q13778 Q13793
Q16011 Q16014 Q16019 Q16020 Q6GSC0 Q8WZ99 Q9BT38 Q9UC33 Q9UCA9 Q9UCB6 Q9UCC8 Q9UCD1 Q9UQ58
Alternative splicing: 11 isoforms:  P05067-1   P05067-2   P05067-3   P05067-4   P05067-5   P05067-6   P05067-7   P05067-8   
P05067-9   P05067-10   P05067-11   (A major isoform)

Explore the universe of human proteins at neXtProt for APP: NX_P05067

Explore proteomics data for APP at MOPED 

Post-translational modifications:

  • UniProtKB: Proteolytically processed under normal cellular conditions. Cleavage either by alpha-secretase, beta-secretase or
    theta-secretase leads to generation and extracellular release of soluble APP peptides, S-APP-alpha and
    S-APP-beta, and the retention of corresponding membrane-anchored C-terminal fragments, C80, C83 and C99.
    Subsequent processing of C80 and C83 by gamma-secretase yields P3 peptides. This is the major secretory pathway
    and is non-amyloidogenic. Alternatively, presenilin/nicastrin-mediated gamma-secretase processing of C99 releases
    the amyloid beta proteins, amyloid-beta 40 (Abeta40) and amyloid-beta 42 (Abeta42), major components of amyloid
    plaques, and the cytotoxic C-terminal fragments, gamma-CTF(50), gamma-CTF(57) and gamma-CTF(59). Many other minor
    beta-amyloid peptides, beta-amyloid 1-X peptides, are found in cerebral spinal fluid (CSF) including the
    beta-amyloid X-15 peptides, produced from the cleavage by alpha-secretase and all terminatiing at Gln-686
  • UniProtKB: Proteolytically cleaved by caspases during neuronal apoptosis. Cleavage at Asp-739 by either caspase-6, -8 or -9
    results in the production of the neurotoxic C31 peptide and the increased production of beta-amyloid peptides
  • UniProtKB: N- and O-glycosylated. O-glycosylation on Ser and Thr residues with core 1 or possibly core 8 glycans. Partial
    tyrosine glycosylation (Tyr-681) is found on some minor, short beta-amyloid peptides (beta-amyloid 1-15, 1-16,
    1-17, 1-18, 1-19 and 1-20) but not found on beta-amyloid 38, beta-amyloid 40 nor on beta-amyloid 42. Modification
    on a tyrosine is unusual and is more prevelant in AD patients. Glycans had Neu5AcHex(Neu5Ac)HexNAc-O-Tyr,
    Neu5AcNeu5AcHex(Neu5Ac)HexNAc-O-Tyr and O-AcNeu5AcNeu5AcHex(Neu5Ac)HexNAc-O-Tyr structures, where O-Ac is
    O-acetylation of Neu5Ac. Neu5AcNeu5Ac is most likely Neu5Ac 2,8Neu5Ac linked. O-glycosylations in the vicinity of
    the cleavage sites may influence the proteolytic processing. Appicans are L-APP isoforms with O-linked
    chondroitin sulfate
  • UniProtKB: Phosphorylation in the C-terminal on tyrosine, threonine and serine residues is neuron-specific. Phosphorylation
    can affect APP processing, neuronal differentiation and interaction with other proteins. Phosphorylated on
    Thr-743 in neuronal cells by Cdc5 kinase and Mapk10, in dividing cells by Cdc2 kinase in a cell-cycle dependent
    manner with maximal levels at the G2/M phase and, in vitro, by GSK-3-beta. The Thr-743 phosphorylated form causes
    a conformational change which reduces binding of Fe65 family members. Phosphorylation on Tyr-757 is required for
    SHC binding. Phosphorylated in the extracellular domain by casein kinases on both soluble and membrane-bound APP.
    This phosphorylation is inhibited by heparin
  • UniProtKB: Extracellular binding and reduction of copper, results in a corresponding oxidation of Cys-144 and Cys-158, and
    the formation of a disulfide bond. In vitro, the APP-Cu(+) complex in the presence of hydrogen peroxide results
    in an increased production of beta-amyloid-containing peptides
  • UniProtKB: Trophic-factor deprivation triggers the cleavage of surface APP by beta-secretase to release sAPP-beta which is
    further cleaved to release an N-terminal fragment of APP (N-APP)
  • UniProtKB: Beta-amyloid peptides are degraded by IDE
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05067

  • APP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    APP Protein Expression
    REFSEQ proteins (10 alternative transcripts): 
    NP_000475.1  NP_001129488.1  NP_001129601.1  NP_001129602.1  NP_001129603.1  NP_001191230.1  NP_001191231.1  NP_001191232.1  
    NP_958816.1  NP_958817.1  

    ENSEMBL proteins: 
     ENSP00000284981   ENSP00000346129   ENSP00000345463   ENSP00000350578   ENSP00000387483  
     ENSP00000398879   ENSP00000397795   ENSP00000396923   ENSP00000406539   ENSP00000351796  
     ENSP00000352760   ENSP00000388538  
    Reactome Protein details: P05067
    Human Recombinant Protein Products for APP: 
    EMD Millipore Purified and/or Recombinant APP Protein
    R&D Systems Recombinant & Natural Proteins for APP (APP+1, APP)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for APP
    OriGene Protein Over-expression Lysate for APP
    OriGene MassSpec for APP 
    OriGene Custom Protein Services for APP
    GenScript Custom Purified and Recombinant Proteins Services for APP
    Novus Biologicals APP Proteins
    Novus Biologicals APP Lysates
    Sino Biological Recombinant Protein for APP
    Sino Biological Cell Lysate for APP 
    ProSpec Recombinant Protein for APP
    Cloud-Clone Corp. Proteins for APP 

    Gene Ontology (GO): 5/23 cellular component terms (GO ID links to tree view) (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005737cytoplasm ISS--
    GO:0005794Golgi apparatus ISS--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA12805363

    APP for ontologies           About GeneDecksing



    APP Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of APP
    R&D Systems Antibodies for APP (APP 695+1, APP+1, APP)
    Cell Signaling Technology (CST) Antibodies for APP 
    OriGene Antibodies for APP
    OriGene Custom Antibody Services for APP
    GenScript Superior Antibodies for APP
    Novus Biologicals APP Antibodies
    Abcam antibodies for APP
    Cloud-Clone Corp. Antibodies for APP 
    ThermoFisher Antibody for APP
    LSBio Antibodies in human, mouse, rat for APP 

    Assay Products for APP: 
    EMD Millipore Kits and Assays for the Analysis of APP
    OriGene Custom Assay Services for APP
    R&D Systems ELISAs for APP         (see all)
    GenScript Custom Assay Services for APP
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for APP 
    Cloud-Clone Corp. CLIAs for APP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/11 InterPro protein domains (see all 11):
     IPR024329 Amyloid_glyco_E2_domain
     IPR019745 Amyloid_glyco_intracell_CS
     IPR002223 Prot_inh_Kunz-m
     IPR008155 Amyloid_glyco
     IPR008154 Amyloid_glyco_extra

    Graphical View of Domain Structure for InterPro Entry P05067

    ProtoNet protein and cluster: P05067

    2 Blocks protein domains:
    IPB002223 Pancreatic trypsin inhibitor (Kunitz)
    IPB008155 Amyloidogenic glycoprotein (Amyloid A4)


    UniProtKB/Swiss-Prot: A4_HUMAN, P05067
    Domain: The basolateral sorting signal (BaSS) is required for sorting of membrane proteins to the basolateral
    surface of epithelial cells
    Domain: The NPXY sequence motif found in many tyrosine-phosphorylated proteins is required for the specific
    binding of the PID domain. However, additional amino acids either N- or C-terminal to the NPXY motif are often
    required for complete interaction. The PID domain-containing proteins which bind APP require the YENPTY motif for
    full interaction. These interactions are independent of phosphorylation on the terminal tyrosine residue. The
    NPXY site is also involved in clathrin-mediated endocytosis
    Similarity: Belongs to the APP family
    Similarity: Contains 1 BPTI/Kunitz inhibitor domain


    APP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: A4_HUMAN, P05067
    Function: Functions as a cell surface receptor and performs physiological functions on the surface of neurons
    relevant to neurite growth, neuronal adhesion and axonogenesis. Involved in cell mobility and transcription
    regulation through protein-protein interactions. Can promote transcription activation through binding to
    APBB1-KAT5 and inhibits Notch signaling through interaction with Numb. Couples to apoptosis-inducing pathways
    such as those mediated by G(O) and JIP. Inhibits G(o) alpha ATPase activity (By similarity). Acts as a kinesin I
    membrane receptor, mediating the axonal transport of beta-secretase and presenilin 1. Involved in copper
    homeostasis/oxidative stress through copper ion reduction. In vitro, copper-metallated APP induces neuronal death
    directly or is potentiated through Cu(2+)-mediated low-density lipoprotein oxidation. Can regulate neurite
    outgrowth through binding to components of the extracellular matrix such as heparin and collagen I and IV. The
    splice isoforms that contain the BPTI domain possess protease inhibitor activity. Induces a AGER-dependent
    pathway that involves activation of p38 MAPK, resulting in internalization of amyloid-beta peptide and leading to
    mitochondrial dysfunction in cultured cortical neurons. Provides Cu(2+) ions for GPC1 which are required for
    release of nitric oxide (NO) and subsequent degradation of the heparan sulfate chains on GPC1
    Function: Beta-amyloid peptides are lipophilic metal chelators with metal-reducing activity. Bind transient metals
    such as copper, zinc and iron. In vitro, can reduce Cu(2+) and Fe(3+) to Cu(+) and Fe(2+), respectively.
    Beta-amyloid 42 is a more effective reductant than beta-amyloid 40. Beta-amyloid peptides bind to lipoproteins
    and apolipoproteins E and J in the CSF and to HDL particles in plasma, inhibiting metal-catalyzed oxidation of
    lipoproteins. Beta-APP42 may activate mononuclear phagocytes in the brain and elicit inflammatory responses.
    Promotes both tau aggregation and TPK II-mediated phosphorylation. Interaction with Also bind GPC1 in lipid rafts
    Function: Appicans elicit adhesion of neural cells to the extracellular matrix and may regulate neurite outgrowth
    in the brain (By similarity)
    Function: The gamma-CTF peptides as well as the caspase-cleaved peptides, including C31, are potent enhancers of
    neuronal apoptosis
    Function: N-APP binds TNFRSF21 triggering caspase activation and degeneration of both neuronal cell bodies (via
    caspase-3) and axons (via caspase-6)
    Induction: Increased levels during neuronal differentiation

         Genatlas biochemistry entry for APP:
    amyloid beta (A4) precursor protein (APP 695) undergoing proteolytic cleavages by either alpha,beta or gamma
    secretases in or near the transmembrane domain,to yield several secreted derivatives,including soluble
    APP,4kDa,beta peptide (A beta) and a related,3 kDa,protein,expressed ubiquitously by neuronal and non neuronal
    cells and sorted to axons in neurons and the basolateral surface in epithelial cells (see PN2)

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ISS--
    GO:0004867serine-type endopeptidase inhibitor activity IDA10652580
    GO:0005102receptor binding IPI19849849
    GO:0005515protein binding IPI10049767
    GO:0008201heparin binding IEA--
         
    APP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for APP:
     Upregulation of Wnt/beta-caten 

         13 MGI mutant phenotypes (inferred from 21 alleles(MGI details for App):
     behavior/neurological  cellular  growth/size  homeostasis/metabolism  immune system 
     integument  mortality/aging  muscle  nervous system  no phenotypic analysis 
     normal  other  reproductive system 

    APP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for APP: Apptm3.2Mull Apptm1Cwe Apptm2Umu Apptm1.2Zhe Apptm1Dbo Apptm1Somm
                                                         Apptm2Cwe

       inGenious Targeting Laboratory - Custom generated mouse model solutions for APP 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APP 

    miRNA
    Products:
        
    miRTarBase miRNAs that target APP:
    hsa-mir-17 (MIRT003898), hsa-let-7a (MIRT003902), hsa-mir-15a (MIRT003899), hsa-mir-20a (MIRT003382), hsa-mir-101 (MIRT000430), hsa-mir-520c-3p (MIRT001934), hsa-let-7d (MIRT003901), hsa-mir-130a (MIRT003900), hsa-mir-106b (MIRT000373), hsa-mir-106a (MIRT001935)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APP
    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate APP (see all 41):
    hsa-miR-411* hsa-miR-323-3p hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-3152-3p hsa-miR-379* hsa-miR-300
    SwitchGear 3'UTR luciferase reporter plasmidAPP 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for APP About   (see all 29)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Alzheimer's disease0.46
    Alzheimers Disease0.44
    2Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)0.71
    Peptide ligand-binding receptors0.60
    GPCR ligand binding0.71
    G alpha (i) signalling events0.46
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    4Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94
    5G alpha (q) signalling events
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 R&D Systems Pathways for APP
        TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions
    A-beta Uptake & Degradation
    A-beta Plaque Formation & APP Metabolism

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for APP
        DHA Signaling
    Reelin Pathway (Cajal-Retzius cells)
    Alzheimers Disease Pathway
    Presenilin-Mediated Signaling

    1 Cell Signaling Technology (CST) Pathway for APP
        Neuroscience

    5/6 BioSystems Pathways for APP (see all 6)
        Delta-Notch Signaling Pathway
    Alzheimers Disease
    Integrated Pancreatic Cancer Pathway
    p75(NTR)-mediated signaling
    Glypican 1 network


    5/24        Reactome Pathways for APP (see all 24)
        Advanced glycosylation endproduct receptor signaling
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Response to elevated platelet cytosolic Ca2+
    Disease
    ECM proteoglycans


    2         Kegg Pathways  (Kegg details for APP):
        Serotonergic synapse
    Alzheimer's disease


    APP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for APP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/562 Interacting proteins for APP (P050671, 2, 3 ENSP000002849814) via UniProtKB, MINT, STRING, and/or I2D (see all 562)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671, 2EBI-821758,EBI-821758 MINT-8398314 MINT-8398328 MINT-8298823 MINT-8398162 MINT-8198814 MINT-8398244 MINT-8413766 MINT-8398369 MINT-8076832 MINT-8198878 MINT-8398177 MINT-8076937 MINT-8076881 MINT-8407095 MINT-8398197 MINT-8398226 MINT-8076764 MINT-8076848 MINT-8076751 MINT-8076777 MINT-8398404 MINT-8198864 MINT-8076899 MINT-8426341 MINT-8417400 MINT-8413783 MINT-8076792 MINT-8426311 MINT-8417418 MINT-8398284 MINT-8407074 MINT-8298837
    APBB1O002131, 2, 3, ENSP000002994024EBI-77613,EBI-81694 MINT-8206686 MINT-8206667 MINT-8206789 I2D: score=9 STRING: ENSP00000299402
    ENSG00000206480O759551, 3EBI-77613,EBI-603643 I2D: score=3 
    ENSG00000230143O759551, 3EBI-77613,EBI-603643 I2D: score=3 
    ENSG00000232280O759551, 3EBI-77613,EBI-603643 I2D: score=3 
    About this table

    Gene Ontology (GO): 5/44 biological process terms (GO ID links to tree view) (see all 44):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000085G2 phase of mitotic cell cycle ISS--
    GO:0001967suckling behavior IEA--
    GO:0002576platelet degranulation TAS--
    GO:0006378mRNA polyadenylation ISS--
    GO:0006417regulation of translation ISS--

    APP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    APP for compounds           About GeneDecksing

    EMD Millipore small molecules for APP:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for APP

    Compounds for APP available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Amyloid beta-peptide (42-1) (human)Inactive control peptide for amyloid beta-peptide (1-42) (Cat. No. 1428)[317366-82-8]
    Amyloid beta-peptide (1-42) (rat)Predominant amyloid beta-protein fragment[166090-74-0]
    Amyloid beta-Peptide (1-40) (human)Amyloid beta-protein fragment[131438-79-4]
    Ro 90-7501Inhibitor of Abeta42 fibril formation[293762-45-5]
    Amyloid beta-Peptide (1-42) (human)Predominant amyloid beta-protein fragment[107761-42-2]

    6 HMDB Compounds for APP    About this table
    CompoundSynonyms CAS #PubMed Ids
    Clotrimazole(Chlorotrityl)imidazole (see all 72)23593-75-1--
    CopperCu (see all 2)7440-50-8--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    HeparinArteven (see all 17)9005-49-6--
    Hydrogen peroxideHydrogen peroxide (see all 44)7722-84-1--
    IronArmco iron (see all 19)7439-89-6--

    1 DrugBank Compound for APP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Methionine Sulfoxide-- 62697-73-8target--10592235

    10/120 Novoseek inferred chemical compound relationships for APP gene (see all 120)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thioflavin t 82.5 14 10686395 (1), 15615711 (1), 18202749 (1), 19399778 (1) (see all 14)
    happ 76.6 22 7499323 (2), 16027115 (1), 19369541 (1), 7882025 (1) (see all 14)
    clioquinol 69.6 5 12198135 (1), 15681799 (1), 16648635 (1), 16025421 (1)
    aspartate(1-) 68.5 1 17352478 (1)
    thioflavin 67.2 3 8292358 (1), 7845465 (1)
    tv-3279 66.8 6 12206996 (2), 12853332 (2), 17197368 (1), 16935943 (1)
    phenserine 65.9 13 16690718 (3), 11273593 (2), 17003227 (2), 15974893 (1) (see all 8)
    thioflavine s 65.8 5 8780408 (1), 10446806 (1), 1373017 (1), 7964904 (1)
    ladostigil 62.5 13 17197368 (4), 12206996 (2), 12853332 (2), 16935943 (2)
    sulindac sulfide 62.1 4 12777371 (1), 18359496 (1), 15076232 (1)

    Search CenterWatch for drugs/clinical trials and news about APP / A4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for APP gene (10 alternative transcripts): 
    NM_000484.3  NM_001136016.3  NM_001136129.2  NM_001136130.2  NM_001136131.2  NM_001204301.1  NM_001204302.1  NM_001204303.1  
    NM_201413.2  NM_201414.2  

    Unigene Cluster for APP:

    Amyloid beta (A4) precursor protein
    Hs.434980  [show with all ESTs]
    Unigene Representative Sequence: NM_000484
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000346798(uc010glk.3) ENST00000354192(uc011acg.2) ENST00000348990(uc011aci.2)
    ENST00000357903(uc002yma.3) ENST00000440126 ENST00000439274 ENST00000464867
    ENST00000456209 ENST00000448850 ENST00000415997 ENST00000491395 ENST00000474136(uc011acj.2)
    ENST00000463070 ENST00000548570 ENST00000462267 ENST00000466453 ENST00000358918(uc002ylz.3 uc011ach.2 uc021whz.1 uc021wia.1)
    ENST00000359726(uc002ymb.3 uc010glj.3 uc021wib.1)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APP
    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate APP (see all 41):
    hsa-miR-411* hsa-miR-323-3p hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-3152-3p hsa-miR-379* hsa-miR-300
    SwitchGear 3'UTR luciferase reporter plasmidAPP 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for APP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APP
    Clone
    Products:
         
    OriGene clones in human, mouse for APP (see all 31)
    OriGene ORF clones in mouse, rat for APP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 10): APP (NM_001204301)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APP
    Sirion Biotech Customized lentivirus for stable overexpression of APP 
                         Customized lentivirus expression plasmids for stable overexpression of APP 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for APP
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat APP
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APP
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APP

    Additional mRNA sequence: 

    AB066441.2 AF282245.1 AK294534.1 AK295373.1 AK295621.1 AK296229.1 AK297229.1 AK297412.1 
    AK298861.1 AK311717.1 AK312326.1 BC004369.1 BC065523.1 BC065529.1 BC110059.1 M15533.1 
    M16765.1 M18734.1 M28373.1 M35675.1 S41243.1 S60721.1 S61380.1 S61383.1 
    X06981.1 X06982.1 X06989.1 Y00264.1 

    24/44 DOTS entries (see all 44):

    DT.95298153  DT.100894758  DT.92047441  DT.97861505  DT.456045  DT.95135651  DT.100680290  DT.100043645 
    DT.100680285  DT.100680298  DT.100680291  DT.95246943  DT.100680273  DT.98132128  DT.100894757  DT.85105138 
    DT.99974598  DT.91775407  DT.97867296  DT.100866396  DT.100894759  DT.121133292  DT.121133321  DT.121133336 

    24/1024 AceView cDNA sequences (see all 1024):

    BC065523 BM565053 AI245513 AA385402 BX442531 CR618842 AI129306 BG913173 
    BU625693 BU633285 BM847070 CD360059 F02262 BM693510 BG030179 BM510519 
    BQ684549 BE551608 CD514570 AW020412 BM876321 BM786359 BQ010223 BU629082 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    APP expression in normal human tissues (normalized intensities)      APP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCGCTTTCT
    APP Expression
    About this image


    APP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             brain/midbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Eye (Sensory Organs)
             Retina

    See APP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APP

    SOURCE GeneReport for Unigene cluster: Hs.434980

    UniProtKB/Swiss-Prot: A4_HUMAN, P05067
    Tissue specificity: Expressed in all fetal tissues examined with highest levels in brain, kidney, heart and
    spleen. Weak expression in liver. In adult brain, highest expression found in the frontal lobe of the cortex and
    in the anterior perisylvian cortex-opercular gyri. Moderate expression in the cerebellar cortex, the posterior
    perisylvian cortex-opercular gyri and the temporal associated cortex. Weak expression found in the striate,
    extra-striate and motor cortices. Expressed in cerebrospinal fluid, and plasma. Isoform APP695 is the predominant
    form in neuronal tissue, isoform APP751 and isoform APP770 are widely expressed in non-neuronal cells. Isoform
    APP751 is the most abundant form in T-lymphocytes. Appican is expressed in astrocytes

        SABiosciences Expression via Pathway-Focused PCR Arrays including APP (see all 8): 
              Parkinson's Disease in human mouse rat
              Neurogenesis in human mouse rat
              Multiple Sclerosis in human mouse rat
              GABA & Glutamate in human mouse rat
              Autophagy in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for APP
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat APP
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APP
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for APP gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia App1 , 5 amyloid beta (A4) precursor protein1, 5 89.26(n)1
    97.41(a)1
      16 (46.92 cM)5
    118201  NM_007471.31  NP_031497.21 
     849544405 
    chicken
    (Gallus gallus)
    Aves APP6
    amyloid beta A4 protein precursor
    94(a)
    1 ↔ 1
    1(101945902-102105676)
    lizard
    (Anolis carolinensis)
    Reptilia APP6
    Uncharacterized protein
    70(a)
    1 ↔ 1
    3(148080819-148244883)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC528162 hypothetical protein MGC52816 79.1(n)    AJ298151.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF389401.12   -- 76.62(n)   58083  AF389401.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Appl6
    beta amyloid protein precursor-like
    18(a)
    1 → many
    X(424503-473077)
    worm
    (Caenorhabditis elegans)
    Secernentea apl-13 Expression: head neurons, motor
    neurons, neurons, more
    37(a)   X(5148379-5152143)   --


    ENSEMBL Gene Tree for APP (if available)
    TreeFam Gene Tree for APP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for APP gene
    APLP22  APLP12  
    6 SIMAP similar genes for APP using alignment to 10 protein entries:     A4_HUMAN (see all proteins):
    ITIL    APLP2    EPPIN    SPINT3    APLP1    TFPI2

    APP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7303 SNPs in APP are shown (see all 7303)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0142184
    Alzheimer disease 1 (AD1)4--see VAR_0142182 T I mis40--------
    VAR_0444244
    Alzheimer disease 1 (AD1)4--see VAR_0444242 D N mis40--------
    VAR_0142194
    Alzheimer disease 1 (AD1)4--see VAR_0142192 V L mis40--------
    VAR_0322774
    Alzheimer disease 1 (AD1)4--see VAR_0322772 T A mis40--------
    VAR_0000164
    Alzheimer disease 1 (AD1)4--see VAR_0000162 A G mis40--------
    VAR_0000204
    Alzheimer disease 1 (AD1)4--see VAR_0000202 I V mis40--------
    VAR_0322764
    Cerebral amyloid angiopathy, APP-related (CAA-APP)4--see VAR_0322762 L V mis40--------
    VAR_0101094
    Alzheimer disease 1 (AD1)4--see VAR_0101092 L P mis40--------
    VAR_0101084
    Alzheimer disease 1 (AD1)4--see VAR_0101082 V M mis40--------
    VAR_0142174
    Cerebral amyloid angiopathy, APP-related (CAA-APP)4--see VAR_0142172 D N mis40--------

    HapMap Linkage Disequilibrium report for APP (27252861 - 27502861 bp, first 250kb of APP)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for APP (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723297CNV Deletion23290073
    esv2723294CNV Deletion23290073
    esv4736CNV Deletion18987735
    esv2660354CNV Deletion23128226
    esv2723296CNV Deletion23290073
    nsv510502CNV Loss20534489
    nsv526774CNV Loss19592680
    esv7875OTHER Inversion19470904
    esv2965OTHER Inversion18987735
    esv1301961OTHER Inversion17803354


    Human Gene Mutation Database (HGMD): APP

    Locus Specific Mutation Databases (LSDB): APP
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing APP
    DNA2.0 Custom Variant and Variant Library Synthesis for APP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 104760   
    OMIM disorders: 605714  104300  
    UniProtKB/Swiss-Prot: A4_HUMAN, P05067
  • Alzheimer disease 1 (AD1) [MIM:104300]: A familial early-onset form of Alzheimer disease. It can be
    associated with cerebral amyloid angiopathy. Alzheimer disease is a neurodegenerative disorder characterized by
    progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal
    neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of
    these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the
    transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs)
    and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714]: A hereditary localized amyloidosis due
    to amyloid-beta A4 peptide(s) deposition in the cerebral vessels. The principal clinical characteristics are
    recurrent cerebral and cerebellar hemorrhages, recurrent strokes, cerebral ischemia, cerebral infarction, and
    progressive mental deterioration. Patients develop cerebral hemorrhage because of the severe cerebral amyloid
    angiopathy. Parenchymal amyloid deposits are rare and largely in the form of pre-amyloid lesions or diffuse
    plaque-like structures. They are Congo red negative and lack the dense amyloid cores commonly present in
    Alzheimer disease. Some affected individuals manifest progressive aphasic dementia, leukoencephalopathy, and
    occipital calcifications. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/130 diseases for APP (see all 130):    About MalaCards
    alzheimer's disease    cerebritis    myositis    inclusion body myositis
    hereditary cerebral amyloid angiopathy    central nervous system vasculitis    cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants    amyloidosis cerebral
    alzheimer disease type 1    alzheimer disease 1, familial    cerebral amyloid angiopathy    lewy body dementia
    meningoencephalitis    monosomy 21    alzheimer disease risk factor    hereditary diffuse leukoencephalopathy with spheroids
    dementia    leukomalacia    gerstmann-straussler-scheinker disease    neuroaxonal dystrophy, infantile

    7 diseases from the University of Copenhagen DISEASES database for APP:
    Alzheimer's disease     Amyloidosis     Down syndrome     Lung cancer
    Toxic encephalopathy     Inclusion body myositis     Carcinoma

    APP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/97 Novoseek inferred disease relationships for APP gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 97.8 4064 9037522 (6), 15992373 (5), 11033334 (4), 12727689 (4) (see all 99)
    senile plaques 96.9 978 1704190 (4), 7671455 (4), 1562053 (3), 1703383 (3) (see all 99)
    neurofibrillary tangles 90.4 152 7684484 (3), 16413130 (2), 15575491 (2), 7824200 (1) (see all 99)
    cerebral amyloid angiopathy 89.2 86 1303239 (2), 11760381 (2), 9295214 (2), 11021833 (2) (see all 71)
    amyloid deposition 87.7 76 8761343 (2), 7639729 (2), 1632967 (1), 10681074 (1) (see all 65)
    neurodegeneration 85 185 15645264 (2), 14529455 (2), 9865935 (2), 8590049 (2) (see all 99)
    neurodegenerative diseases 82.9 95 8294927 (1), 8021287 (1), 15672443 (1), 16027166 (1) (see all 79)
    dementia 80.8 183 20403962 (4), 1723832 (3), 15184603 (3), 9717183 (2) (see all 99)
    amyloidosis 80.1 124 8267600 (2), 9133629 (2), 9014180 (2), 2113597 (1) (see all 99)
    early onset alzheimer disease 79.5 26 1791986 (2), 16921174 (2), 8469399 (1), 7592902 (1) (see all 18)

    GeneTests: APP
    GeneReviews: APP
    Genetic Association Database (GAD): APP
    Human Genome Epidemiology (HuGE) Navigator: APP (89 documents)

    Export disorders for APP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for APP gene, integrated from 9 sources (see all 3961):
    (articles sorted by number of sources associating them with APP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regulation of amyloid protein precursor (APP) binding to collagen and mapping of the binding sites on APP and collagen type I. (PubMed id 8576160)1, 2, 9 Beher D.... Multhaup G. (1996)
    2. Mutagenesis identifies new signals for beta-amyloid precursor protein endocytosis, turnover, and the generation of secreted fragments, including Abeta42. (PubMed id 10383380)1, 2, 9 Perez R.G.... Koo E.H. (1999)
    3. Regulation of FE65 nuclear translocation and function by amyloid beta-protein precursor in osmotically stressed cells. (PubMed id 18468999)1, 2, 9 Nakaya T.... Suzuki T. (2008)
    4. Association studies testing for risk for late-onset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP). (PubMed id 17427190)1, 4, 9 Nowotny P....Goate A. (2007)
    5. Phosphorylation-dependent regulation of the interaction of amyloid precursor protein with Fe65 affects the production of beta-amyloid. (PubMed id 11517218)1, 2, 9 Ando K.... Suzuki T. (2001)
    6. APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease. (PubMed id 19462468)1, 4, 9 Bettens K....Van Broeckhoven C. (2009)
    7. A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease. (PubMed id 17412506)1, 4, 9 Scacchi R....Corbo R.M. (2007)
    8. Novel polymorphisms of the amyloid precursor protein (APP) gene in Chinese/Taiwanese patients with Alzheimer's disease. (PubMed id 19097908)1, 4, 9 Thajeb P....Harrigan R. (2009)
    9. A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. (PubMed id 12925374)1, 4, 9 Ezquerra M....Oliva R. (2003)
    10. A second cytotoxic proteolytic peptide derived from amyloid beta- protein precursor. (PubMed id 10742146)1, 2, 9 Lu D.C.... Bredesen D.E. (2000)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 351 HGNC: 620 AceView: APP Ensembl:ENSG00000142192 euGenes: HUgn351
    ECgene: APP Kegg: 351 H-InvDB: APP

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for APP Pharmacogenomics, SNPs, Pathways
    Alzheimer Research Forumhttp://www.alzforum.org/res/com/mut/app/default.asp
    AD mutationshttp://www.molgen.ua.ac.be/ADmutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APP
    NIEHS-SNPshttp://egp.gs.washington.edu/data/app/
    Wikipedia http://en.wikipedia.org/wiki/Amyloid_beta

    (Patent information from GeneIP,
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    Patent Information for APP gene:
    Search GeneIP for patents involving APP

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