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

Gene ID: 1601, updated on 25-Nov-2021

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
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
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Genomic context

See DAB2 in Genome Data Viewer
Location:
5p13.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (39371677..39424980, complement)
105.20201022 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 Sharpr-MPRA regulatory region 12253 Neighboring gene complement C9 Neighboring gene uncharacterized LOC112267931 Neighboring gene long intergenic non-protein coding RNA 2104

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

Associated conditions

Description Tests
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
GeneReviews: Not available
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
GeneReviews: Not available
Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
GeneReviews: Not available
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available

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

Homology

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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 cellular response to transforming growth factor beta 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
PubMed 
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
PubMed 
involved_in positive regulation of endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of pathway-restricted SMAD protein phosphorylation 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 positive regulation of transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
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
PubMed 
involved_in regulation of Rho-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
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
 
Component Evidence Code Pubs
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
PubMed 
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 
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
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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/Swiss-Prot
    P98082
    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
    P98082
    UniProtKB/TrEMBL
    A0A024R036, B2RAW0
    Related
    ENSP00000313391.6, ENST00000320816.11
    Conserved Domains (1) summary
    cd01215
    Location:35172
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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