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    DAB2 DAB adaptor protein 2 [ Homo sapiens (human) ]

    Gene ID: 1601, updated on 17-Jun-2024

    Summary

    Official Symbol
    DAB2provided by HGNC
    Official Full Name
    DAB adaptor protein 2provided by HGNC
    Primary source
    HGNC:HGNC:2662
    See related
    Ensembl:ENSG00000153071 MIM:601236; AllianceGenome:HGNC:2662
    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]
    Expression
    Broad expression in placenta (RPKM 111.0), kidney (RPKM 73.8) and 20 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See DAB2 in Genome Data Viewer
    Location:
    5p13.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (39371677..39424980, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (39621190..39674588, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (39371779..39425082, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene FYN binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22497 Neighboring gene golgin A5 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12253 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:39220741-39221242 Neighboring gene Sharpr-MPRA regulatory region 14491 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:39242438-39242627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22498 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:39283272-39283436 Neighboring gene complement C9 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:39380837-39382036 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:39382313-39383512 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_84809 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_84831 Neighboring gene long intergenic non-protein coding RNA 2104 Neighboring gene CFAP53 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: C9

    Clone Names

    • FLJ26626

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cargo receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cargo receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables clathrin adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables clathrin adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables low-density lipoprotein particle receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to epidermal growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in clathrin coat assembly IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in integrin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in leading edge cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of androgen receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of Wnt signaling pathway, planar cell polarity pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of aldosterone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of aldosterone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of clathrin-dependent endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of early endosome to late endosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of substrate adhesion-dependent cell spreading IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in receptor-mediated endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to salt IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to steroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in clathrin-coated pit IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in focal adhesion HDA PubMed 
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    disabled homolog 2
    Names
    DAB2, clathrin adaptor protein
    Dab, mitogen-responsive phosphoprotein, homolog 2
    adaptor molecule disabled-2
    differentially expressed in ovarian carcinoma 2
    differentially-expressed protein 2
    disabled homolog 2, mitogen-responsive phosphoprotein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5254..58557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244871.2NP_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/TrEMBL
      B2RAW0
      Related
      ENSP00000439919.1, ENST00000545653.5
      Conserved Domains (1) summary
      cd01215
      Location:35172
      PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
    2. NM_001343.4NP_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/Swiss-Prot
      A6NES5, P98082, Q13598, Q9BTY0, Q9UK04
      UniProtKB/TrEMBL
      B2RAW0
      Related
      ENSP00000313391.6, ENST00000320816.11
      Conserved Domains (1) summary
      cd01215
      Location:35172
      PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      39371677..39424980 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      39621190..39674588 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)