Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

APPL2 Gene

protein-coding   GIFtS: 51
GCID: GC12M105568

adaptor protein, phosphotyrosine interaction, PH domain...

 Explore 1 disease affiliated with
APPL2 via our new
 Human Malady Compendium 
Biological research products
for APPL2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Adaptor Protein, Phosphotyrosine Interaction, PH Domain And Leucine Zipper
Containing 21 2
     DCC-Interacting Protein 13-Beta2
DIP13B1 2 3     DIP13 Beta2
Adapter Protein Containing PH Domain, PTB Domain And Leucine Zipper Motif 22 3     Dip13-Beta1
FLJ106591 5     

External Ids:    HGNC: 182421   Entrez Gene: 551982   Ensembl: ENSG000001360447   OMIM: 6062315   UniProtKB: Q8NEU83   

Export aliases for APPL2 gene to outside databases

Previous GC identifers: GC12M104091 GC12M102626


(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 APPL2:
The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal
transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin
homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR
domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF
stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein
1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving
this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. (provided
by RefSeq, Oct 2011)

UniProtKB/Swiss-Prot: DP13B_HUMAN, Q8NEU8
Function: Required for the regulation of cell proliferation in response to extracellular signals mediated by an early
endosomal compartment. Links Rab5 to nuclear signal transduction

Gene Wiki entry for APPL2


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the APPL2 gene promoter:
         Elk-1   Pax-5   p300   AP-4   RelA   NF-kappaB   AREB6   NRF-2   COMP1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPPL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for APPL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APPL2


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

Entrez Gene cytogenetic band: 12q24.1   Ensembl cytogenetic band:  12q23.3   HGNC cytogenetic band: 12q24.1

APPL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APPL2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M105568:  view genomic region     (about GC identifiers)

Start:
105,567,074 bp from pter      End:
105,630,016 bp from pter
Size:
62,943 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DP13B_HUMAN, Q8NEU8 (See protein sequence)
Recommended Name: DCC-interacting protein 13-beta  
Size: 664 amino acids; 74493 Da
Subunit: Binds RAB5A/Rab5 through an N-terminal domain. This interaction is essential for its recruitment to endosomal
membranes as well as its role in cell proliferation. Binds subunits of the NuRD/MeCP1 complex
Subcellular location: Early endosome membrane; Peripheral membrane protein. Nucleus. Note=Early endosomal
membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following
internalization of EGF
1 PDB 3D structure from and Proteopedia for APPL2:
4H8S (3D)    
Secondary accessions: B7Z411 B7Z4B0 F5GZG0 F8W1P5 Q8N4R7 Q9NVL2
Alternative splicing: 3 isoforms:  Q8NEU8-1   Q8NEU8-2   Q8NEU8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for APPL2: NX_Q8NEU8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NEU8

  • APPL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001238833.1  NP_001238834.1  NP_060641.2  

    ENSEMBL proteins: 
     ENSP00000258530   ENSP00000449410   ENSP00000444472   ENSP00000447828   ENSP00000446917  
     ENSP00000446510   ENSP00000448569   ENSP00000449767   ENSP00000447520  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: APPL2
    OriGene Protein Over-expression Lysate: APPL2
    OriGene Custom Protein Services for APPL2 
    GenScript Custom Purified and Recombinant Proteins Services for APPL2
    Novus Biologicals APPL2 Proteins
    Novus Biologicals APPL2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for APPL2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15016378
    GO:0005737cytoplasm IC15016378
    GO:0010008endosome membrane IDA15016378
    GO:0016581colocalizes with NuRD complex IDA15016378
    GO:0031901early endosome membrane IEA--


    APPL2 for ontologies           About GeneDecksing



    APPL2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for APPL2 
    GenScript Custom Superior Antibodies Services for APPL2
    Novus Biologicals APPL2 Antibodies
    Search for Antibodies for APPL2 at Abcam  
    Uscn Antibodies for APPL2
    Search ThermoFisher Antibodies for APPL2

    Assay Products for APPL2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for APPL2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for APPL2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    APPL2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR006020 PTyr_interaction_dom
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q8NEU8

    ProtoNet protein and cluster: Q8NEU8

    2 Blocks protein families:
    IPB001849 Pleckstrin-like
    IPB006020 Phosphotyrosine interaction domain


    UniProtKB/Swiss-Prot: DP13B_HUMAN, Q8NEU8
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 PID domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DP13B_HUMAN, Q8NEU8
    Function: Required for the regulation of cell proliferation in response to extracellular signals mediated by an early
    endosomal compartment. Links Rab5 to nuclear signal transduction

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: APPL2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APPL2
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate APPL2 (see all 25):
    hsa-miR-320a hsa-miR-137 hsa-miR-520d-5p hsa-miR-219-5p hsa-miR-340 hsa-miR-133a hsa-miR-149 hsa-miR-558
    SwitchGear 3'UTR luciferase reporter plasmidAPPL2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APPL2 (see all 7)
    OriGene shRNA RFP: APPL2
    OriGene siRNA: APPL2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APPL2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for APPL2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APPL2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APPL2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: APPL2 (NM_018171)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APPL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APPL2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for APPL2
    Search LifeMap BioReagents cell lines for APPL2

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APPL2

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17030088
    GO:0005543phospholipid binding IEA--


    APPL2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for APPL2:
     Decreased viability of wild-ty 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway1.00


    1 BioSystems Pathway for APPL2 
        EGFR1 Signaling Pathway


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for APPL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/12 Interacting proteins for APPL2 (Q8NEU82, 3 ENSP000002585304) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPL1Q9UKG12, 3, ENSP000002882664MINT-66149 I2D: score=6 STRING: ENSP00000288266
    RAB22AQ9UL262, 3, ENSP000002440404MINT-67006 I2D: score=5 STRING: ENSP00000244040
    MTA2O947763, ENSP000002788234I2D: score=3 STRING: ENSP00000278823
    RUVBL2Q9Y2303, ENSP000002214134I2D: score=1 STRING: ENSP00000221413
    RAB5AP203393, ENSP000002730474I2D: score=2 STRING: ENSP00000273047
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007049cell cycle IEA--
    GO:0007165signal transduction TAS15016378
    GO:0008283cell proliferation IDA15016378


    APPL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for APPL2
    Search CenterWatch for drugs/clinical trials and news about APPL2 / DP13B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for APPL2 gene (3 alternative transcripts): 
    NM_001251904.1  NM_001251905.1  NM_018171.3  

    Unigene Cluster for APPL2:

    Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
    Hs.506603  [show with all ESTs]
    Unigene Representative Sequence: BX649010
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000258530(uc010swt.2 uc010swu.1 uc001tlf.1 uc001tlg.1)
    ENST00000547439 ENST00000539978(uc009zuq.3) ENST00000547790 ENST00000546731
    ENST00000551662 ENST00000553109 ENST00000548425 ENST00000547809 ENST00000552945
    ENST00000549573 ENST00000549974 ENST00000550648 ENST00000546768 ENST00000553097
    ENST00000549056

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: APPL2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APPL2
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate APPL2 (see all 25):
    hsa-miR-320a hsa-miR-137 hsa-miR-520d-5p hsa-miR-219-5p hsa-miR-340 hsa-miR-133a hsa-miR-149 hsa-miR-558
    SwitchGear 3'UTR luciferase reporter plasmidAPPL2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APPL2 (see all 7)
    OriGene shRNA RFP: APPL2
    OriGene siRNA: APPL2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APPL2
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APPL2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APPL2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: APPL2 (NM_018171)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APPL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APPL2 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APPL2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat APPL2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APPL2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APPL2

    Additional cDNA sequence: 

    AK001521.2 AK290562.1 AK293783.1 AK296610.1 AK297100.1 AK310377.1 AY113704.1 BC028008.1 
    BC033731.1 BX649010.1 

    12 DOTS entries:

    DT.317130  DT.100643630  DT.414912  DT.100785938  DT.86837665  DT.121114340  DT.121114357  DT.95373084 
    DT.100785937  DT.426748  DT.92451418  DT.99967045 

    24/187 AceView cDNA sequences (see all 187):

    AW848791 CD245274 BQ771962 AL533329 BM712089 N59312 AI275114 BX503864 
    BG036336 CB144094 AI972901 AA480302 AW794409 AW848231 AA804422 AA502319 
    BI826139 N76838 W33014 C00808 BM983349 BI459633 AI688395 BI461671 

    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

    APPL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGCTTGGTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    APPL2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainCerebral CortexBrain
    BrainHypothalamusBrain
    BrainMedulla OblongataBrain
    LimbAutopodLimb
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)

    See APPL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APPL2

    SOURCE GeneReport for Unigene cluster: Hs.506603

    UniProtKB/Swiss-Prot: DP13B_HUMAN, Q8NEU8
    Tissue specificity: High levels in brain, heart, kidney and skeletal muscle

        SABiosciences Custom PCR Arrays for APPL2
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APPL2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat APPL2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APPL2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APPL2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APPL2

    (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 chordates.

    Orthologs for APPL2 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Appl21 , 5 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 less1, 5 87.92(n)1
    92.75(a)1
      10 (41.29 cM)5
    2161901  NM_145220.21  NP_660255.11 
     836000335 
    chicken
    (Gallus gallus)
    Aves APPL21 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 less 77.15(n)
    84.35(a)
      418075  XM_416311.3  XP_416311.2 
    lizard
    (Anolis carolinensis)
    Reptilia APPL26
    --
    82(a)
    1 ↔ 1
    5(18798814-18831249)
    zebrafish
    (Danio rerio)
    Actinopterygii appl21 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 less 66.72(n)
    70.84(a)
      100000135  NM_001128075.1  NP_001121547.1 


    ENSEMBL Gene Tree for APPL2 (if available)
    TreeFam Gene Tree for APPL2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for APPL2 gene
    APPL12  
    1 SIMAP similar gene for APPL2 using alignment to 7 protein entries:     DP13B_HUMAN (see all proteins):
    APPL1

    APPL2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1281 NCBI SNPs in APPL2 are shown (see all 1281    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs747855441,2
    F,--102626105(+) CAAATT/CTGTAA 3 -- ds50011Minor allele frequency- C:0.02NA 120
    rs583748151,2
    --102626250(+) TTATCC/TACCAT 3 -- ds50010--------
    rs1139124661,2
    C--102626447(+) CACATG/CTAACG 3 -- ds50011Minor allele frequency- C:0.00CSA 1
    rs605851411,2
    C--102626507(+) TAATA-/ATAGTCTG 3 -- ut310--------
    rs22724931,2
    C,F,H--102626630(+) TGGAAA/GTAGGA 3 -- ut317Minor allele frequency- G:0.01EA NS NA 1898
    rs771733451,2
    C,--102626824(+) GTAAGG/CCTCCA 3 -- ut312Minor allele frequency- C:0.04NA 122
    rs772204261,2
    C,F,--102627028(+) AGAACG/AACAGG 3 -- ut311Minor allele frequency- A:0.03EA 120
    rs778575061,2
    F,--102627261(+) AAGCAC/TCTAAA 3 -- ut311Minor allele frequency- T:0.02WA 118
    rs749521641,2
    C,F,--102627360(+) CAAACG/AATTGT 3 -- ut311Minor allele frequency- A:0.07EA 120
    rs128240921,2
    C,H--102627421(+) CCTTAG/AGAGGT 3 -- ut31 ese34Minor allele frequency- A:0.00NS EA 412

    HapMap Linkage Disequilibrium report for APPL2 (105567074 - 105630016 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for APPL2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APPL2
    DNA2.0 Custom Variant and Variant Library Synthesis for APPL2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    APPL2 for disorders           About GeneDecksing

    OMIM gene information: 606231    OMIM disorders: --

    UniProtKB/Swiss-Prot: DP13B_HUMAN, Q8NEU8
  • Note=A chromosomal aberration involving APPL2/DIP13B is found in patients with chromosome 22q13.3 deletion
  • syndrome. Translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2

    1 disease for APPL2:    About MalaCards
    phelan-mcdermid syndrome


    Export disorders for APPL2 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 APPL2 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with APPL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. (PubMed id 11431708)1, 2, 3, 9 Bonaglia M.C....Zuffardi O. (2001)
    2. APPL1, APPL2, Akt2 and FOXO1a interact with FSHR in a potential signaling complex. (PubMed id 17030088)1, 3, 9 Nechamen C.A....Dias J.A. (2007)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment. (PubMed id 15016378)1, 2 Miaczynska M.... Zerial M. (2004)
    6. Endosomal adaptor proteins APPL1 and APPL2 are novel activators of beta-catenin/TCF-mediated transcription. (PubMed id 19433865)1, 9 Rashid S....Miaczynska M. (2009)
    7. Genetic variations in APPL2 are associated with overwe ight and obesity in a Chinese population with normal glucose tolerance. (PubMed id 22462604)1 Jiang S....Jia W. (2012)
    8. Membrane curvature protein exhibits interdomain flexib ility and binds a small GTPase. (PubMed id 23055524)1 King G.J....Martin J.L. (2012)
    9. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    10. Genetic variability in adapter proteins with APPL1/2 i s associated with the risk of coronary artery disease in type 2 diabetes mellitu s in Chinese Han population. (PubMed id 22340213)1 Ma X.W....Guo X.H. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 55198 HGNC: 18242 AceView: DIP13B Ensembl:ENSG00000136044 euGenes: HUgn55198
    ECgene: APPL2 H-InvDB: APPL2

    (According to HUGE)
    About This Section
      --

    (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 APPL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for APPL2 gene:
    Search GeneIP for patents involving APPL2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for APPL2  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APPL2   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APPL2  
     OriGene Protein Over-expression Lysate for APPL2   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for APPL2   OriGene 3'-UTR Clone for APPL2  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APPL2   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APPL2  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for APPL2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for APPL2   OriGene Custom Protein Services for APPL2  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat APPL2
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APPL2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APPL2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APPL2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APPL2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APPL2
     GenScript Custom Purified and Recombinant Proteins Services for APPL2 GenScript cDNA clones with any tag delivered in your preferred vector for APPL2
     GenScript Custom Assay Services for APPL2 GenScript Custom Superior Antibodies Services for APPL2
     GenScript Custom overexpressing Cell Line Services for APPL2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in APPL2 promoter
     Search Chromatin IP Primers for APPL2
     RT2 qPCR Primer Assay in human, mouse, rat APPL2
     Search GNC Networks for APPL2
     SABiosciences Custom PCR Arrays for APPL2
     Search Tocris compounds for APPL2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     APPL2 antibodies
     APPL2 proteins
     APPL2 lysates
     Search for Antibodies for APPL2 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for APPL2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     APPL2 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for APPL2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APPL2
     SwitchGear 3'UTR luciferase reporter plasmids for APPL2
     SwitchGear Promoter luciferase reporter plasmids for APPL2
     Search ThermoFisher Antibodies for APPL2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APPL2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      APPL2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4