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APLP2 Gene

protein-coding   GIFtS: 62
GCID: GC11P129939

Amyloid Beta (A4) Precursor-Like Protein 2


(Previous symbol: APPL2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Amyloid Beta (A4) Precursor-Like Protein 21 2     CDEI Box-Binding Protein2 3
APPL21 2 3     Amyloid Precursor Protein Homolog HSD-22
APLP-22 3     Amyloid-Like Protein 22
APPH2 3     Amyloid Protein Homolog3
CDEBP2 3     

External Ids:    HGNC: 5981   Entrez Gene: 3342   Ensembl: ENSG000000842347   OMIM: 1047765   UniProtKB: Q064813   

Export aliases for APLP2 gene to outside databases

Previous GC identifers: GC11P131940 GC11P131452 GC11P129973 GC11P129477 GC11P129445 GC11P125891


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for APLP2 Gene:
This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor
protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-,
copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region,
and transmembrane and intracellular domains at the C-terminus. This protein interacts with major
histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to
mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in
the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different
isoforms have been identified. (provided by RefSeq, Aug 2011)

GeneCards Summary for APLP2 Gene:
APLP2 (amyloid beta (A4) precursor-like protein 2) is a protein-coding gene. Diseases associated with APLP2 include alzheimer's disease, and amyloidosis. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and identical protein binding. An important paralog of this gene is APP.

UniProtKB/Swiss-Prot: APLP2_HUMAN, Q06481
Function: May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards
coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA
5'-GTCACATG-3'(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular
kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in
fibroblasts (By similarity)

Gene Wiki entry for APLP2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the APLP2 gene promoter:
         TBP   p53   NF-YA   NF-YB   FOXC1   CBF-A   CBF-B   CP1A   Pax-4a   NF-Y   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPLP2 promoter sequence
   Search Chromatin IP Primers for APLP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APLP2


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

Entrez Gene cytogenetic band: 11q24   Ensembl cytogenetic band:  11q24.3   HGNC cytogenetic band: 11q24

APLP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APLP2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P129939:  view genomic region     (about GC identifiers)

Start:
129,939,716 bp from pter      End:
130,014,706 bp from pter
Size:
74,991 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: APLP2_HUMAN, Q06481 (See protein sequence)
Recommended Name: Amyloid-like protein 2 precursor  
Size: 763 amino acids; 86956 Da
Subunit: Interacts with CPEB1. Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired
by tyrosine phosphorylation of the NPXY motif (By similarity)
Sequence caution: Sequence=BAG54641.1; Type=Frameshift; Positions=81;
Secondary accessions: B3KXX9 H7BXI4 Q13861 Q14594 Q14662 Q71U10 Q7M4L3 Q9BT36
Alternative splicing: 6 isoforms:  Q06481-1   Q06481-2   Q06481-3   Q06481-4   Q06481-5   Q06481-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for APLP2: NX_Q06481

Explore proteomics data for APLP2 at MOPED

Post-translational modifications: 

  • The BPTI/Kunitz inhibitor domain is O-glycosylated1
  • Ubiquitination2 at Lys744, Lys756
  • Glycosylation2 at Thr367, Thr371, Thr380, Ser381, Asn541, Thr658
  • Modification sites at PhosphoSitePlus

  • See APLP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001135748.1  NP_001135749.1  NP_001135750.1  NP_001230228.1  NP_001633.1  

    ENSEMBL proteins: 
     ENSP00000434592   ENSP00000433582   ENSP00000434059   ENSP00000434379   ENSP00000435470  
     ENSP00000435914   ENSP00000263574   ENSP00000263575   ENSP00000345444   ENSP00000278756  
     ENSP00000444122   ENSP00000443728  

    APLP2 Human Recombinant Protein Products:

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    Abcam antibodies for APLP2
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    APLP2 Assay Products:

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    Cloud-Clone Corp. ELISAs for APLP2
    Cloud-Clone Corp. CLIAs for APLP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 10):
     IPR024329 Amyloid_glyco_E2_domain
     IPR002223 Prot_inh_Kunz-m
     IPR008154 Amyloid_glyco_extra
     IPR020901 Prtase_inh_Kunz-CS
     IPR011178 Amyloid_glyco_Cu-bd

    Graphical View of Domain Structure for InterPro Entry Q06481

    ProtoNet protein and cluster: Q06481

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


    UniProtKB/Swiss-Prot: APLP2_HUMAN, Q06481
    Similarity: Belongs to the APP family
    Similarity: Contains 1 BPTI/Kunitz inhibitor domain


    APLP2 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APLP2_HUMAN, Q06481
    Function: May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards
    coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA
    5'-GTCACATG-3'(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular
    kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in
    fibroblasts (By similarity)

         Genatlas biochemistry entry for APLP2:
    amyloid beta (A4) precursor protein-like 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS7702756
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
    GO:0005515protein binding IPI16193067
    GO:0008201heparin binding IEA--
    GO:0042802identical protein binding IPI16193067
         
    APLP2 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for APLP2:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Increased TP53 protein express 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Aplp2):
     behavior/neurological  embryogenesis  growth/size/body  integument  mortality/aging 
     nervous system  normal  reproductive system 

    APLP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for APLP2: Aplp2tm1Min Aplp2tm1Dbo

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APLP2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for APLP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APLP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APLP2

    miRNA
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    miRTarBase miRNAs that target APLP2:
    hsa-mir-93-5p (MIRT048819), hsa-mir-106b-5p (MIRT044252), hsa-mir-7-5p (MIRT025806), hsa-mir-1260b (MIRT052735), hsa-mir-346 (MIRT042713)

    Block miRNA regulation of human, mouse, rat APLP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate APLP2 (see all 35):
    hsa-miR-429 hsa-miR-513a-5p hsa-miR-199a-3p hsa-miR-139-5p hsa-miR-3074-3p hsa-miR-548l hsa-miR-409-5p hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidAPLP2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for APLP2
    Predesigned siRNA for gene silencing in human, mouse, rat APLP2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for APLP2 (see all 24)
    OriGene ORF clones in mouse, rat for APLP2
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    GenScript: all cDNA clones in your preferred vector (see all 4): APLP2 (NM_001142276)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APLP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APLP2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for APLP2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APLP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    APLP2_HUMAN, Q06481: Cell membrane; Single-pass type I membrane protein (Potential). Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    endoplasmic reticulum2
    peroxisome2
    cytosol1
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA7702756
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane NAS8485127
    GO:0070062extracellular vesicular exosome IDA19199708

    APLP2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including APLP2: 
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for APLP2

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

    Selected Interacting proteins for APLP2 (Q064811, 2, 3 ENSP000002635744) via UniProtKB, MINT, STRING, and/or I2D (see all 96)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JUNP054121, 3, ENSP000003602664EBI-79306,EBI-852823 I2D: score=3 STRING: ENSP00000360266
    APLP1P516931, 3, ENSP000002218914EBI-79306,EBI-74648 I2D: score=2 STRING: ENSP00000221891
    ZNF512BQ96KM62, 3MINT-60793 I2D: score=2 
    DEDDO756181, 3EBI-79306,EBI-1043164 I2D: score=1 
    ETS1P149211, 3EBI-79306,EBI-913209 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001967suckling behavior IEA--
    GO:0006878cellular copper ion homeostasis IEA--
    GO:0007176regulation of epidermal growth factor-activated receptor activity IEA--
    GO:0007186G-protein coupled receptor signaling pathway NAS8220435
    GO:0007617mating behavior IEA--

    APLP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for APLP2

    8 Novoseek inferred chemical compound relationships for APLP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 36.6 8 16150056 (3), 9121703 (2), 17908044 (1), 14597230 (1)
    chondroitin sulfate 24 4 7616233 (1), 8863657 (1)
    zinc 15.2 3 7929392 (2)
    tyrosine 7.23 2 18577100 (1), 11784781 (1)
    copper 2.51 3 15465814 (2)
    glutamate 0 1 10624803 (1)
    heparin 0 2 7819340 (1), 8588942 (1)
    nmda 0 1 10624803 (1)



    APLP2 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for APLP2 gene (5 alternative transcripts): 
    NM_001142276.1  NM_001142277.1  NM_001142278.1  NM_001243299.1  NM_001642.2  

    Unigene Cluster for APLP2:

    Amyloid beta (A4) precursor-like protein 2
    Hs.370247  [show with all ESTs]
    Unigene Representative Sequence: NM_001642
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000532456 ENST00000533616 ENST00000534761 ENST00000533532 ENST00000530132
    ENST00000533195 ENST00000533618 ENST00000533713 ENST00000529235 ENST00000534582
    ENST00000527702 ENST00000534001 ENST00000526330 ENST00000529701 ENST00000528499
    ENST00000263574(uc010sby.2 uc001qfp.3 uc001qfq.3 uc010sbz.2 uc001qfr.3 uc001qfs.3 uc001qfv.3)
    ENST00000345598 ENST00000338167
    miRNA
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    Block miRNA regulation of human, mouse, rat APLP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate APLP2 (see all 35):
    hsa-miR-429 hsa-miR-513a-5p hsa-miR-199a-3p hsa-miR-139-5p hsa-miR-3074-3p hsa-miR-548l hsa-miR-409-5p hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidAPLP2 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector (see all 4): APLP2 (NM_001142276)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APLP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APLP2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APLP2
      QuantiTect SYBR Green Assays in human, mouse, rat APLP2
      QuantiFast Probe-based Assays in human, mouse, rat APLP2

    Additional mRNA sequence: 

    AF086183.1 AF168956.1 AK056883.1 AK128162.1 AK225283.1 AK296765.1 AK300378.1 AK304736.1 
    AK308248.1 AK308932.1 BC000373.2 BC004371.1 L09209.1 L19597.1 L23113.1 L23114.1 
    L27631.1 NR_024515.1 NR_024516.1 S60099.1 Z22572.1 

    Selected DOTS entries (see all 80):

    DT.100892323  DT.95306989  DT.451432  DT.40114693  DT.95307013  DT.100892329  DT.95306982  DT.85101610 
    DT.120726827  DT.100892291  DT.120726695  DT.100892277  DT.120726848  DT.95306907  DT.91772974  DT.95219600 
    DT.86995872  DT.92028755  DT.99964200  DT.100892292  DT.100892333  DT.101985416  DT.91773002  DT.97863919 

    Selected AceView cDNA sequences (see all 2055):

    AI814609 AA479414 CB068612 AA366376 AW188006 AA322486 AI497802 AU134093 
    BM785687 R70091 AI568588 BF726542 CA773521 BM802360 BF594225 BG939284 
    AI216635 H84593 BP351867 BU186223 BE081114 N31553 BM835793 BP365356 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for APLP2 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c · 15d · 15e
    SP1:                    -           -                                               -           -           -                                       
    SP2:                                                                          -     -           -           -                                       
    SP3:                                                                                            -           -                                       
    SP4:                                                                                                                                                
    SP5:                                                                                                        -                                       


    ECgene alternative splicing isoforms for APLP2

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    APLP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCTACCCA
    APLP2 Expression
    About this image


    APLP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 22) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Neural Tube (Nervous System)
             Spinal Ventral Columns
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
    APLP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APLP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.370247

    UniProtKB/Swiss-Prot: APLP2_HUMAN, Q06481
    Tissue specificity: Expressed in placenta, brain, heart, lung, liver, kidney and endothelial tissues

        Pathway & Disease-focused RT2 Profiler PCR Array including APLP2: 
              Alzheimer's Disease in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for APLP2
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for APLP2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aplp21 , 5 amyloid beta (A4) precursor-like protein 21, 5 89.39(n)1
    92.98(a)1
      9 (16.66 cM)5
    118041  NM_001102455.11  NP_001095925.11 
     311495575 
    chicken
    (Gallus gallus)
    Aves APLP21 amyloid beta (A4) precursor-like protein 2 80.48(n)
    83.56(a)
      419727  NM_001006317.2  NP_001006317.2 
    lizard
    (Anolis carolinensis)
    Reptilia APLP26
    amyloid beta (A4) precursor-like protein 2
    62(a)
    1 ↔ 1
    GL343197.1(26465-28418)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.33932 Transcribed sequence with weak similarity to protein more 78.4(n)    CF378752.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aplp21 amyloid beta (A4) precursor-like protein 2 75.7(n)
    79.96(a)
      796801  NM_001123012.1  NP_001116484.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Appl6
    beta amyloid protein precursor-like
    21(a)
    1 → many
    X(424503-473077)
    worm
    (Caenorhabditis elegans)
    Secernentea apl-13 Expression: head neurons, motor
    neurons, neurons, more
    35(a)   X(5148379-5152143)   --


    ENSEMBL Gene Tree for APLP2 (if available)
    TreeFam Gene Tree for APLP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APLP2 gene
    APP2  APLP12  
    8 SIMAP similar genes for APLP2 using alignment to 9 protein entries:     APLP2_HUMAN (see all proteins):
    APP    APLP1    EPPIN    COL28A1    SPINT3    ITIL
    TFPI2    TFPI

    APLP2 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for APLP2 (see all 1911)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs751852871,2
    F--125912294(-) GAACGG/AGCCAG 7 -- int12Minor allele frequency- A:0.50NA 4
    rs99178031,2
    C--125912296(+) ggcccG/Attctc 7 -- int13Minor allele frequency- A:0.17NA 6
    rs715059991,2
    C--125912341(+) GTGGCC/TGGGCA 7 -- int12Minor allele frequency- T:0.25NA 4
    rs603173071,2
    C--125916322(+) ATAAT-/AATG  
            
    GAGAT
    7 -- int10--------
    rs125757621,2
    C,F,H--129806667(+) GCGGCT/GGTGTC 6 -- us2k111Minor allele frequency- G:0.22NS EA NA WA 660
    rs1879159791,2
    --129806728(+) AACAGA/GGATTT 6 -- us2k10--------
    rs71297081,2
    C,F,A,H--129806742(+) TTTCAC/GAGTTC 6 -- us2k1 tfbs37Minor allele frequency- G:0.04NS EA NA WA 652
    rs71301461,2
    C,F--129806884(+) GTAGGG/CGACAG 6 -- us2k13Minor allele frequency- C:0.33NA WA 6
    rs1457474111,2
    C--129806888(+) GGGAC-/AGAGAGT 6 -- us2k10--------
    rs586089691,2
    C,F--129806982(+) CAAATC/TCGATT 6 -- us2k16Minor allele frequency- T:0.16WA CSA NA EA 364

    HapMap Linkage Disequilibrium report for APLP2 (129939716 - 130014706 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for APLP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1620466CNV Deletion17803354
    nsv549CNV Insertion18451855
    esv27072CNV Loss19812545
    nsv832295CNV Gain17160897
    dgv251n67CNV Gain20364138
    essv12346CNV CNV17122850
    dgv446e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 104776    OMIM disorders: --

    14 diseases for APLP2:    
    About MalaCards
    alzheimer's disease    amyloidosis    brain disease    lissencephaly
    spinocerebellar ataxia    ataxia    dementia    infertility
    neuroblastoma    cerebritis    pancreatitis    endotheliitis
    breast cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for APLP2:
    Alzheimer's disease

    APLP2 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for APLP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 73.5 24 9037522 (4), 8863657 (3), 9037521 (2), 9389585 (1) (see all 14)
    senile plaques 63.5 5 7592716 (1), 8863657 (1), 10624803 (1), 9729270 (1)
    brain diseases 41.3 2 8863657 (1), 9037522 (1)
    amyloidosis 33.3 1 9923612 (1)
    neurological disorders 0 1 9037522 (1)

    Genetic Association Database (GAD): APLP2
    Human Genome Epidemiology (HuGE) Navigator: APLP2 (1 document)

    Export disorders for APLP2 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)
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    PubMed articles for APLP2 gene, integrated from 10 sources (see all 150):
    (articles sorted by number of sources associating them with APLP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human amyloid precursor-like protein is highly homologous to a mouse sequence-specific DNA-binding protein. (PubMed id 7702756)1, 2, 9 von der Kammer H.... Scheit K.H. (DNA Cell Biol. 1994)
    2. Isolation and characterization of APLP2 encoding a homologue of the Alzheimer's associated amyloid beta protein precursor. (PubMed id 8220435)1, 2, 9 Wasco W.... Tanzi R.E. (Nat. Genet. 1993)
    3. Assignment of amyloid-precursor-like protein 2 gene (APLP2) to 11q24 by fluorescent in situ hybridization. (PubMed id 10702673)1, 3, 9 Leach R....Krawetz S.A. (Cytogenet. Cell Genet. 1999)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Molecular cloning of the cDNA for a human amyloid precursor protein homolog: evidence for a multigene family. (PubMed id 8485127)1, 2 Sprecher C.A.... Foster D.C. (Biochemistry 1993)
    8. Specificity of amyloid precursor-like protein 2 interactions with MHC class I molecules. (PubMed id 18452037)1, 9 Tuli A....Solheim J.C. (Immunogenetics 2008)
    9. Amyloid precursor-like protein 2 association with HLA class I molecules. (PubMed id 19184004)1, 9 Tuli A....Solheim J.C. (Cancer Immunol. Immunother. 2009)
    10. A role for MAP kinase in regulating ectodomain shedding of APLP2 in corneal epithelial cells. (PubMed id 11443060)1, 9 Xu K.P....Yu F.S. (Am. J. Physiol., Cell Physiol. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 334 HGNC: 598 AceView: APLP2 Ensembl:ENSG00000084234 euGenes: HUgn334
    ECgene: APLP2 H-InvDB: APLP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for APLP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for APLP2 gene:
    Search GeneIP for patents involving APLP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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