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DAB2 Gene

protein-coding   GIFtS: 64
GCID: GC05M039371

Dab, Mitogen-Responsive Phosphoprotein, Homolog 2 (Drosophila)

(Previous names: disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein),...)
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(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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Dab, Mitogen-Responsive Phosphoprotein, Homolog 2 (Drosophila)1 2     Disabled (Drosophila) Homolog 2 (Mitogen-Responsive Phosphoprotein)1
DOC22 3 5     Disabled Homolog 2, Mitogen-Responsive Phosphoprotein (Drosophila)1
Differentially-Expressed Protein 22 3     Disabled Homolog 22
DOC-22 3     Disabled Homolog 2, Mitogen-Responsive Phosphoprotein2

External Ids:    HGNC: 26621   Entrez Gene: 16012   Ensembl: ENSG000001530717   OMIM: 6012365   UniProtKB: P980823   
ORGUL members:         

Export aliases for DAB2 gene to outside databases

Previous GC identifers: GC05M039550 GC05M040463 GC05M039372 GC05M039418 GC05M039417 GC05M039408


(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 DAB2 Gene:
This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is
down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This
protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a
guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate
growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Oct 2011)

GeneCards Summary for DAB2 Gene:
DAB2 (Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)) is a protein-coding gene. GO annotations related to this gene include protein C-terminus binding and SMAD binding. An important paralog of this gene is DAB1.

UniProtKB/Swiss-Prot: DAB2_HUMAN, P98082
Function: Adapter protein that functions as clathrin-associated sorting protein (CLASP) required for
clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds
simultaneously to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and cargos containg non-phosphorylated
NPXY internalization motifs, such as the LDL receptor, to recruit them to clathrin-coated pits. Can function in
clathrin-mediated endocytosis independently of the AP-2 complex. Involved in endocytosis of integrin beta-1; this
function seems to redundant with the AP-2 complex and seems to require DAB2 binding to endocytosis accessory EH
domain-containing proteins such as EPS15, EPS15L1 and ITSN1. Involved in endocytosis of cystic fibrosis
transmembrane conductance regulator/CFTR. Involved in endocytosis of megalin/LRP2 lipoprotein receptor during
embryonal development. Required for recycling of the TGF-beta receptor. Involved in CFTR trafficking to the late
endosome. Involved in several receptor-mediated signaling pathways. Involved in TGF-beta receptor signaling and
facilitates phosphorylation of the signal transducer SMAD2. Mediates TFG-beta-stimulated JNK activation. May
inhibit the canoniocal Wnt/beta-catenin signaling pathway by stabilizing the beta-catenin destruction complex
through a competing association with axin preventing its dephosphorylation through protein phosphatase 1 (PP1).
Sequesters LRP6 towards clathrin-mediated endocytosis, leading to inhibition of Wnt/beta-catenin signaling. May
activate non-canonical Wnt signaling. In cell surface growth factor/Ras signaling pathways proposed to inhibit
ERK activation by interrupting the binding of GRB2 to SOS1 and to inhibit SRC by preventing its activating
phosphorylation at 'Tyr-419'. Proposed to be involved in modulation of androgen receptor (AR) signaling mediated
by SRC activation; seems to compete with AR for interaction with SRC. Plays a role in the CSF-1 signal
transduction pathway. Plays a role in cellular differentiation. Involved in cell positioning and formation of
visceral endoderm (VE) during embryogenesis and proposed to be required in the VE to respond to Nodal signaling
coming from the epiblast. Required for the epithelial to mesenchymal transition, a process necessary for proper
embryonic development. May be involved in myeloid cell differentiation and can induce macrophage adhesion and
spreading. May act as a tumor suppressor

Gene Wiki entry for DAB2 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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Regulatory elements:
   Regulatory transcription factor binding sites in the DAB2 gene promoter:
         RORalpha1   Elk-1   AML1a   Nkx2-2   HFH-1   Nkx2-5   ZIC2/Zic2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDAB2 promoter sequence
   Search Chromatin IP Primers for DAB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DAB2


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

Entrez Gene cytogenetic band: 5p13.1   Ensembl cytogenetic band:  5p13.1   HGNC cytogenetic band: 5p13.1

DAB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DAB2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M039371:  view genomic region     (about GC identifiers)

Start:
39,371,780 bp from pter      End:
39,462,402 bp from pter
Size:
90,623 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: DAB2_HUMAN, P98082 (See protein sequence)
Recommended Name: Disabled homolog 2  
Size: 770 amino acids; 82448 Da
Subunit: Interacts (via NPXY motif) with DAB2 (via PID domain). Can interact (via PID domain) with LDLR, APP,
APLP1 and APLP2, and weakly with INPP5D (via NPXY motifs); the interaction is impaired by tyrosine
phosphorylation of the respective NPXY motifs. Can weakly interact (via PID domain) with LRP1 (via NPXY motif);
the interaction is enhanced by tyrosine phosphorylation of the NPXY motif. Interacts with LRP2 (via NPXY motif);
the interaction is not affected by tyrosine phosphorylation of the NPXY motif. Interacts with clathrin; in vitro
can assemble clathrin triskelia into polyhedral coats. Interacts with AP2A2, ITGB1, ITGB3, ITGB5, PIAS2, DAB2IP,
NOSTRIN, FCHO1, DVL3, EPS15, ITSN1 and EPS15L1. Interacts with SH3KBP1 (via SH3 domains). Interacts with GRB2;
competes with SOS1 for binding to GRB2 and the interaction is enhanced by EGF and NT-3 stimulation. Interacts
with MAP3K7; the interaction is induced by TGF-beta stimulation and may mediate TGF-beta stimulated JNK
activation. Interacts with AXIN1 and PPP1CA; the interactions are mutually exclusive. Interacts with the globular
tail of MYO6. Interacts (via DPF motifs) with FCHO2; the interaction is direct and required for DAB2-mediated
LDLR endocytosis. Interacts with LRP6; the interaction involves LRP6 phosphorylation by CK2 and sequesters LRP6
towards clathrin-mediated endocytosis. Associates with the TGF-beta receptor complex (Probable). Interacts with
SMAD2 and SMAD3; the interactions are enhanced upon TGF-beta stimulation. Interacts with GRB2; the interaction is
enhanced by EGF and NT-3 stimulation. Interacts with SRC; the interaction is enhanced by EGF stimulation
1 PDB 3D structure from and Proteopedia for DAB2:
2LSW (3D)    
Secondary accessions: A6NES5 Q13598 Q9BTY0 Q9UK04
Alternative splicing: 3 isoforms:  P98082-1   P98082-2   P98082-3   

Explore the universe of human proteins at neXtProt for DAB2: NX_P98082

Explore proteomics data for DAB2 at MOPED

Post-translational modifications: 

  • Phosphorylated. Phosphorylation during mitosis is leading to membrane displacement (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DAB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001231800.1  NP_001334.2  

    ENSEMBL proteins: 
     ENSP00000345508   ENSP00000313391   ENSP00000426245   ENSP00000421526   ENSP00000427541  
     ENSP00000425088   ENSP00000421086   ENSP00000439919  
    Reactome Protein details: P98082

    DAB2 Human Recombinant Protein Products:

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    Novus Biologicals DAB2 Proteins
    Novus Biologicals DAB2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DAB2

     
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    DAB2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DAB2
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    Cell Signaling Technology (CST) Antibodies for DAB2 
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    LSBio Antibodies in human, mouse, rat for DAB2

    DAB2 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DAB2
    Cloud-Clone Corp. CLIAs for DAB2
    Search eBioscience for ELISAs for DAB2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011993 PH_like_dom
     IPR028761 Dab
     IPR006020 PTB/PI_dom

    Graphical View of Domain Structure for InterPro Entry P98082

    ProtoNet protein and cluster: P98082

    2 Blocks protein domains:
    IPB002173 Carbohydrate kinase
    IPB006020 Phosphotyrosine interaction domain


    UniProtKB/Swiss-Prot: DAB2_HUMAN, P98082
    Domain: The PID domain binds to predominantly non-phosphorylated NPXY internalization motifs present in members of
    the LDLR and APP family; it also mediates simultaneous binding to phosphatidylinositol 4,5-bisphosphate (By
    similarity)
    Domain: The Asn-Pro-Phe (NPF) motifs, which are found in proteins involved in the endocytic pathway, mediate the
    interaction with the EH domain of EPS15, EPS15R and ITSN1 (By similarity)
    Similarity: Contains 1 PID domain


    Find genes that share domains with DAB2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DAB2_HUMAN, P98082
    Function: Adapter protein that functions as clathrin-associated sorting protein (CLASP) required for
    clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds
    simultaneously to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and cargos containg non-phosphorylated
    NPXY internalization motifs, such as the LDL receptor, to recruit them to clathrin-coated pits. Can function in
    clathrin-mediated endocytosis independently of the AP-2 complex. Involved in endocytosis of integrin beta-1; this
    function seems to redundant with the AP-2 complex and seems to require DAB2 binding to endocytosis accessory EH
    domain-containing proteins such as EPS15, EPS15L1 and ITSN1. Involved in endocytosis of cystic fibrosis
    transmembrane conductance regulator/CFTR. Involved in endocytosis of megalin/LRP2 lipoprotein receptor during
    embryonal development. Required for recycling of the TGF-beta receptor. Involved in CFTR trafficking to the late
    endosome. Involved in several receptor-mediated signaling pathways. Involved in TGF-beta receptor signaling and
    facilitates phosphorylation of the signal transducer SMAD2. Mediates TFG-beta-stimulated JNK activation. May
    inhibit the canoniocal Wnt/beta-catenin signaling pathway by stabilizing the beta-catenin destruction complex
    through a competing association with axin preventing its dephosphorylation through protein phosphatase 1 (PP1).
    Sequesters LRP6 towards clathrin-mediated endocytosis, leading to inhibition of Wnt/beta-catenin signaling. May
    activate non-canonical Wnt signaling. In cell surface growth factor/Ras signaling pathways proposed to inhibit
    ERK activation by interrupting the binding of GRB2 to SOS1 and to inhibit SRC by preventing its activating
    phosphorylation at 'Tyr-419'. Proposed to be involved in modulation of androgen receptor (AR) signaling mediated
    by SRC activation; seems to compete with AR for interaction with SRC. Plays a role in the CSF-1 signal
    transduction pathway. Plays a role in cellular differentiation. Involved in cell positioning and formation of
    visceral endoderm (VE) during embryogenesis and proposed to be required in the VE to respond to Nodal signaling
    coming from the epiblast. Required for the epithelial to mesenchymal transition, a process necessary for proper
    embryonic development. May be involved in myeloid cell differentiation and can induce macrophage adhesion and
    spreading. May act as a tumor suppressor

         Genatlas biochemistry entry for DAB2:
    murine disabled-2,mitogen responsive-phosphoprotein p96 homolog,originally identified as a cDNA fragment isolated
    from normal ovarian epithelial cell,expressed in various tissues,putatively involved in cellular transduction

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding IEA--
    GO:0005515protein binding IPI11387212
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding IEA--
    GO:0008022protein C-terminus binding IPI15837803
    GO:0030276clathrin binding ----
         
    Find genes that share ontologies with DAB2           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dab2):
     cellular  embryogenesis  growth/size/body  homeostasis/metabolism  mortality/aging 
     renal/urinary system 

    Find genes that share phenotypes with DAB2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dab2tm1.1Cpr for DAB2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DAB2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DAB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DAB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DAB2

    miRNA
    Products:
        
    miRTarBase miRNAs that target DAB2:
    hsa-mir-26b-5p (MIRT030166), hsa-mir-335-5p (MIRT018855)

    Block miRNA regulation of human, mouse, rat DAB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DAB2 (see all 30):
    hsa-miR-644 hsa-miR-498 hsa-miR-219-1-3p hsa-miR-607 hsa-miR-106a hsa-miR-519a hsa-miR-1297 hsa-miR-141*
    SwitchGear 3'UTR luciferase reporter plasmidDAB2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DAB2
    Predesigned siRNA for gene silencing in human, mouse, rat DAB2

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for DAB2

    Clone
    Products:
         
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    OriGene ORF clones in mouse, rat for DAB2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DAB2 (NM_001343)
    Sino Biological Human cDNA Clone for DAB2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DAB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DAB2

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAB2

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12305) for DAB2 


    (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
    DAB2_HUMAN, P98082: Cytoplasm. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Membrane, clathrin-coated
    pit. Note=Colocalizes with large insert-containing isoforms of MYO6 at clathrin-coated pits/vesicles. During
    mitosis is progressively displaced from the membrane and translocated to the cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome4
    plasma membrane4
    vacuole4
    cytosol3
    nucleus3
    cytoskeleton1
    endosome1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm ----
    GO:0005765lysosomal membrane TAS--
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with DAB2           About GenesLikeMe


    (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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    SuperPaths for DAB2 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    Transport Clathrin coated vesicle cycle0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    2Gap junction trafficking
    Gap junction trafficking0.93
    Formation of annular gap junctions0.00
    Gap junction trafficking and regulation0.93
    Gap junction degradation0.00
    3Wnt signaling pathway (KEGG)
    Wnt Signaling Pathway NetPath0.37
    4Endocytic Trafficking of EGFR
    Cholesterol and Sphingolipids transport Influx to the early endosome in lung normal and CF 0.35
    5Clathrin derived vesicle budding
    Membrane Trafficking0.32


    Find genes that share SuperPaths with DAB2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for DAB2
        SMAD Signaling Network

    2 Cell Signaling Technology (CST) Pathways for DAB2
        Cytoskeletal Signaling
    Tyrosine Kinases / Adaptors

    4 GeneGo (Thomson Reuters) Pathways for DAB2
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    3 BioSystems Pathways for DAB2
        TGF-beta Receptor Signaling Pathway
    Wnt Signaling Pathway NetPath
    TGF-beta receptor signaling


    2 Reactome Pathways for DAB2
        Gap junction degradation
    Formation of annular gap junctions


    1 Kegg Pathway  (Kegg details for DAB2):
        Endocytosis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DAB2: 
              WNT Signaling Targets in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DAB2

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

    Selected Interacting proteins for DAB2 (P980821, 2, 3 ENSP000003133914) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRP6O755811, 2EBI-1171238,EBI-910915 MINT-8383369 MINT-8383520 MINT-8383467 MINT-8383354 MINT-8383493 MINT-8383480 MINT-8382936 MINT-8383325 MINT-8383417 MINT-8383507 MINT-8383533 MINT-8382947 MINT-8383280 MINT-8383454 MINT-8382960 MINT-8383399 MINT-8383303 MINT-8382978 MINT-8383384 MINT-8383339
    SMAD2Q157961, 3, ENSP000002621604EBI-1171238,EBI-1040141 I2D: score=3 STRING: ENSP00000262160
    SMAD3P840221, 3, ENSP000003329734EBI-1171238,EBI-347161 I2D: score=3 STRING: ENSP00000332973
    FYNP062412, 3, ENSP000003576564MINT-8111079 I2D: score=2 STRING: ENSP00000357656
    PIK3R1P279862, 3, ENSP000002743354MINT-8111775 I2D: score=2 STRING: ENSP00000274335
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 38):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000904cell morphogenesis involved in differentiation IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001921positive regulation of receptor recycling IEA--
    GO:0001934positive regulation of protein phosphorylation IMP12805222
    GO:0006898receptor-mediated endocytosis ----

    Find genes that share ontologies with DAB2           About GenesLikeMe



    (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)
    About This Section

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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 DAB2

    4 Novoseek inferred chemical compound relationships for DAB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphotyrosine 47.7 5 10769163 (1), 15134832 (1), 9620555 (1), 11387212 (1)
    retinoic acid 37.4 10 11577091 (2), 18567755 (1), 11437382 (1)
    fibrinogen 14.7 7 15280374 (4), 17074833 (2), 19956625 (1)
    zinc 0 1 10779506 (1)



    Find genes that share compounds with DAB2           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DAB2 gene (2 alternative transcripts): 
    NM_001244871.1  NM_001343.3  

    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339788 ENST00000320816 ENST00000509337 ENST00000502879 ENST00000512525
    ENST00000505968 ENST00000507539 ENST00000511792 ENST00000503513 ENST00000515700
    ENST00000513052 ENST00000515269 ENST00000511536 ENST00000509457 ENST00000502388
    ENST00000507990(uc003jly.3) ENST00000545653(uc003jlx.3 uc003jlw.3)

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    hsa-miR-644 hsa-miR-498 hsa-miR-219-1-3p hsa-miR-607 hsa-miR-106a hsa-miR-519a hsa-miR-1297 hsa-miR-141*
    SwitchGear 3'UTR luciferase reporter plasmidDAB2 3' UTR sequence
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    Selected AceView cDNA sequences (see all 541):

    AA400292 CF125630 CR620235 CA412959 AI401453 AU119686 BQ573780 AI039217 
    AA320637 AA907401 BU622313 CA392135 BM970837 CF528390 D79142 BP334808 
    AA424908 BQ771896 AW664299 AW188174 AI766138 AI433405 AI246372 BP346425 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DAB2 (see all 15)    About this scheme

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

    ExUns: 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for DAB2

    (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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    DAB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTTTTCTG
    DAB2 Expression
    About this image


    DAB2 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
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 4 entries
             Visceral Endoderm Cells Visceral Endoderm
             Extraembryonic endoderm-like cells
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
             Detroit 551
     
     Yolk Sac (Extraembryonic Tissues)    fully expand to see all 2 entries
             Visceral Endoderm Cells Visceral Endoderm
     
     NULL (Uncategorized)
             Mesoderm-like cells
     
     Uncategorized
             Extra-embryonic endoderm cells
    DAB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DAB2 Protein Expression

    UniProtKB/Swiss-Prot: DAB2_HUMAN, P98082
    Tissue specificity: Expressed in deep invaginations, inclusion cysts and the surface epithelial cells of the
    ovary. Also expressed in breast epithelial cells, spleen, thymus, prostate, testis, macrophages, fibroblasts,
    lung epithelial cells, placenta, brain stem, heart and small intestine. Expressed in kidney proximal tubular
    epithelial cells (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DAB2: 
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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 DAB2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dab21 , 5 disabled homolog 2 (Drosophila)5
    disabled 2, mitogen-responsive phosphoprotein1
    85.58(n)1
    84.01(a)1
      15 (2.15 cM)5
    131321  NM_023118.51  NP_075607.21 
     62997885 
    chicken
    (Gallus gallus)
    Aves DAB21 disabled homolog 2, mitogen-responsive phosphoprotein more 70.87(n)
    67.34(a)
      427449  XM_004937211.1  XP_004937268.1 
    lizard
    (Anolis carolinensis)
    Reptilia DAB26
    Dab, mitogen-responsive phosphoprotein, homolog 2 ...
    58(a)
    1 ↔ 1
    2(7530455-7575333)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060027.12   -- 75.75(n)    BC060027.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.94432 Danio rerio Dab2 mRNA, complete cds 75.8(n)    BC057504.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dab6
    Disabled
    4(a)
    1 → many
    3L(16705226-16717675)
    worm
    (Caenorhabditis elegans)
    Secernentea dab-16
    Protein DAB-1, isoform d
    4(a)
    1 → many
    II(8226132-8229150) WBGene00000894


    ENSEMBL Gene Tree for DAB2 (if available)
    TreeFam Gene Tree for DAB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DAB2 gene
    DAB12  

    Find genes that share paralogs with DAB2           About GenesLikeMe



    (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 DAB2 (see all 1342)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1816141951,2
    --39316161(+) AGAGCG/TCCCTA 2 -- ds50010--------
    rs38286521,2
    C,F,H--39316185(-) CTGATG/AAACAG 2 -- ds50016Minor allele frequency- A:0.14NS EA WA 656
    rs802988721,2
    C,F--39316207(+) CATGCA/GACAGC 2 -- ds50011Minor allele frequency- G:0.08WA 118
    rs1855570151,2
    C--39316255(+) ACAGTC/TGTGTC 2 -- ds50010--------
    rs1395315771,2
    --39316260(+) CGTGTC/TTTGGT 2 -- ds50010--------
    rs77049421,2
    C,F,A,H--39316348(+) ATTTTA/GTAGTG 2 -- ds500110Minor allele frequency- G:0.30NA EA NS WA 680
    rs1167081961,2
    F--39316434(+) GGGTTT/AGAGAC 2 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1899711891,2
    --39316465(+) TCAGAC/TGGTAA 2 -- ds50010--------
    rs623583901,2
    C,F--39316471(+) GGTAAT/ATTACT 2 -- ds50011Minor allele frequency- A:0.03NA 120
    rs1153051201,2
    C,F--39316538(+) CTATTA/GTAGCT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for DAB2 (39371780 - 39462402 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for DAB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv327295CNV Insertion16902084
    nsv327367CNV Insertion16902084
    esv1006481CNV Insertion20482838
    esv1469374CNV Insertion17803354

    Human Gene Mutation Database (HGMD): DAB2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DAB2
    DNA2.0 Custom Variant and Variant Library Synthesis for DAB2

    (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: 601236    OMIM disorders: --


    Find genes that share disorders with DAB2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DAB2 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ovarian carcinoma 56.5 8 14669280 (2), 11039902 (1), 10340382 (1), 12015763 (1) (see all 7)
    teratocarcinoma 56.2 2 15734730 (1)
    ovarian cancer 35.6 8 11359772 (2), 17009406 (1), 11368898 (1), 9620555 (1)
    epithelial tumor 29.5 3 10340382 (1), 16816378 (1)
    premalignant 22.4 4 12015763 (4)
    carcinoma 17.4 2 9620555 (1), 11161789 (1)
    tumors 10.2 49 12015763 (7), 10340382 (5), 11039902 (3), 12365030 (3) (see all 11)
    breast cancer 2.86 4 11039902 (1), 18567755 (1), 11359772 (1)
    cancer 0 8 12365030 (2), 11368898 (1), 16816378 (1), 11359772 (1) (see all 5)
    cysts 0 1 14669280 (1)

    Genetic Association Database (GAD): DAB2
    Human Genome Epidemiology (HuGE) Navigator: DAB2 (9 documents)

    Export disorders for DAB2 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 DAB2 gene, integrated from 10 sources (see all 160):
    (articles sorted by number of sources associating them with DAB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DOC-2, a candidate tumor suppressor gene in human epithelial ovarian cancer. (PubMed id 9620555)1, 2, 3, 9 Mok S.C.... Berkowitz R.S. (Oncogene 1998)
    2. Sequence, genomic structure, and chromosomal assignment of human DOC- 2. (PubMed id 8660969)1, 2, 3, 9 Albertsen H.M.... White R. (Genomics 1996)
    3. Disabled-2 inactivation is an early step in ovarian tumorigenicity. (PubMed id 10340382)1, 2, 9 Fazili Z.... Xu X.-X. (Oncogene 1999)
    4. Structure, sequence, and promoter analysis of human disabled-2 gene (DAB2). (PubMed id 11161789)1, 2, 9 Sheng Z.... Xu X.-X. (Genomics 2000)
    5. The adaptor protein Dab2 sorts LDL receptors into coated pits independently of AP-2 and ARH. (PubMed id 16984970)1, 2, 9 Maurer M.E. and Cooper J.A. (J. Cell Sci. 2006)
    6. Dab2 links CIN85 with clathrin-mediated receptor internalization. (PubMed id 14596919)1, 2, 9 Kowanetz K.... Dikic I. (FEBS Lett. 2003)
    7. The adaptor molecule Disabled-2 links the transforming growth factor beta receptors to the Smad pathway. (PubMed id 11387212)1, 2, 9 Hocevar B.A.... Howe P.H. (EMBO J. 2001)
    8. The adaptor disabled-2 binds to the third psi xNPxY sequence on the cytoplasmic tail of megalin. (PubMed id 15134832)1, 2, 9 Gallagher H.... Newman D.J. (Biochimie 2004)
    9. Cytosolic adaptor protein Dab2 is an intracellular ligand of endocytic receptor gp600/megalin. (PubMed id 10769163)1, 2, 9 Oleinikov A.V.... Makker S.P. (Biochem. J. 2000)
    10. FCH domain only-2 organizes clathrin-coated structures and interacts with Disabled-2 for low-density lipoprotein receptor endocytosis. (PubMed id 22323290)1, 2 Mulkearns E.E. and Cooper J.A. (Mol. Biol. Cell 2012)

    (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: 1601 HGNC: 2662 AceView: DAB2 Ensembl:ENSG00000153071 euGenes: HUgn1601
    ECgene: DAB2 Kegg: 1601 H-InvDB: DAB2

    (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 DAB2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DAB2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DAB2 gene:
    Search GeneIP for patents involving DAB2

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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