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    DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) [ Homo sapiens (human) ]

    Gene ID: 1601, updated on 26-Jul-2015
    Official Symbol
    DAB2provided by HGNC
    Official Full Name
    Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)provided by HGNC
    Primary source
    HGNC:HGNC:2662
    See related
    Ensembl:ENSG00000153071; HPRD:03139; MIM:601236; Vega:OTTHUMG00000162043
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DOC2; DOC-2
    Summary
    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]
    Orthologs
    See DAB2 in Epigenomics, MapViewer
    Location:
    5p13.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (39371674..39425233, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (39371776..39425335, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene FYN binding protein Neighboring gene golgin A5 pseudogene 1 Neighboring gene complement component 9 Neighboring gene uncharacterized LOC101926940 Neighboring gene coiled-coil domain containing 11 pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    NHGRI GWA Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    NHGRI GWA Catalog
    Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
    NHGRI GWA Catalog
    New loci associated with kidney function and chronic kidney disease.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies DAB2, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Formation of annular gap junctions, organism-specific biosystem (from REACTOME)
      Formation of annular gap junctions, organism-specific biosystemGap junction plaque internalization and the disruption cell communication requires a reorganization of Cx molecular interactions. Proteins including Dab-2, AP-2, Dynamin and Myosin VI associate w...
    • Gap junction degradation, organism-specific biosystem (from REACTOME)
      Gap junction degradation, organism-specific biosystemThe half-life of Cx is very short (1 to 5h) compared to other junctional proteins (Laird et al., 1995 ; Fallon and Goudenough, 1981). Connexins are targeted for degradation by the proteasome and the...
    • Gap junction trafficking, organism-specific biosystem (from REACTOME)
      Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
    • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
      Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling Pathway, organism-specific biosystem"The TGF beta receptors TGFBR1 and TGFBR2 belong to a subfamily of membrane-bound serine/threonine kinases which are designated as Type I or II based on their structural and functional properties. Th...
    • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      TGF-beta receptor signaling, organism-specific biosystem
      TGF-beta receptor signaling
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • Wnt Signaling Pathway NetPath, organism-specific biosystem (from WikiPathways)
      Wnt Signaling Pathway NetPath, organism-specific biosystemWnt family of proteins are a large family of cysteine-rich secreted glycoproteins that regulate cell-cell interactions. They bind to members of the Frizzled family of 7 transmembrane receptors. Bindi...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: C9

    Homology

    Clone Names

    • FLJ26626

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cargo receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    clathrin adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    NOT integrin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    leading edge cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane organization TAS
    Traceable Author Statement
    more info
     
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of androgen receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of SMAD protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of Wnt signaling pathway, planar cell polarity pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of clathrin-mediated endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of early endosome to late endosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    receptor-mediated endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    colocalizes_with transforming growth factor beta receptor homodimeric complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    disabled homolog 2
    Names
    adaptor molecule disabled-2
    differentially expressed in ovarian carcinoma 2
    differentially-expressed protein 2
    disabled homolog 2, mitogen-responsive phosphoprotein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030312.1 RefSeqGene

      Range
      5001..58560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244871.1NP_001231800.1  disabled homolog 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AF188298, AI739507, AK130136, CB989218, U53446
      Consensus CDS
      CCDS58946.1
      UniProtKB/Swiss-Prot
      P98082
      Related
      ENSP00000439919, ENST00000545653
      Conserved Domains (1) summary
      cd01215
      Location:35172
      PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
    2. NM_001343.3NP_001334.2  disabled homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_001334.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AF188298, AI739507, AK130136, AK314381, CB989218, U53446
      Consensus CDS
      CCDS34149.1
      UniProtKB/TrEMBL
      A0A024R036
      UniProtKB/TrEMBL
      B2RAW0
      UniProtKB/Swiss-Prot
      P98082
      Related
      ENSP00000313391, OTTHUMP00000221141, ENST00000320816, OTTHUMT00000367014
      Conserved Domains (1) summary
      cd01215
      Location:35172
      PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

      Range
      39371674..39425233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      39373679..39427330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)