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... See more...

Aliases for DAB2 Gene

Aliases for DAB2 Gene

  • DAB Adaptor Protein 2 2 3 5
  • DOC-2 2 3 4
  • Differentially Expressed In Ovarian Carcinoma 2 3 4
  • Differentially-Expressed Protein 2 3 4
  • DAB2, Clathrin Adaptor Protein 2 3
  • Adaptor Molecule Disabled-2 3 4
  • Disabled Homolog 2 3 4
  • DOC2 3 4
  • Disabled (Drosophila) Homolog 2 (Mitogen-Responsive Phosphoprotein) 2
  • Disabled Homolog 2, Mitogen-Responsive Phosphoprotein (Drosophila) 2
  • Dab, Mitogen-Responsive Phosphoprotein, Homolog 2 (Drosophila) 2
  • Disabled Homolog 2, Mitogen-Responsive Phosphoprotein 3
  • Dab, Mitogen-Responsive Phosphoprotein, Homolog 2 3
  • DAB2 5

External Ids for DAB2 Gene

Previous GeneCards Identifiers for DAB2 Gene

  • GC05M039550
  • GC05M040463
  • GC05M039372
  • GC05M039418
  • GC05M039417
  • GC05M039408

Summaries for DAB2 Gene

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 Adaptor Protein 2) is a Protein Coding gene. Diseases associated with DAB2 include Teratocarcinoma and Cystic Fibrosis. Among its related pathways are Clathrin-mediated endocytosis and Gap junction trafficking. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding and phosphatidylinositol binding. An important paralog of this gene is DAB1.

UniProtKB/Swiss-Prot Summary for DAB2 Gene

  • 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 containing 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DAB2 Gene

Genomics for DAB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DAB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J039418 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 611 +39.0 39016 9.8 CTCF TEAD4 PRDM10 REST RFX1 LEF1 SOX13 IKZF1 KDM1A ZNF692 DAB2 C9 RF00017-4592 lnc-OSMR-3 lnc-C9-1 FYB1
GH05J039460 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 600.7 +0.9 865 1.6 STAT1 BHLHE40 DAB2 LOC112267931 lnc-C9-1 piR-43105-533 C9
GH05J039390 Promoter/Enhancer 0.5 EPDnew dbSUPER 611.9 +71.8 71794 0.1 DAB2 C9 lnc-FYB1-2 RF00017-4592 lnc-C9-1 FYB1
GH05J039417 Promoter/Enhancer 0.5 EPDnew dbSUPER 611 +44.8 44784 0.1 DAB2 RF00017-4592 C9 lnc-C9-1 lnc-FYB1-2 FYB1
GH05J039388 Promoter 0.3 EPDnew 611.9 +73.4 73435 0.1 DAB2 C9 lnc-FYB1-2 RF00017-4592 lnc-C9-1 FYB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DAB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DAB2

Top Transcription factor binding sites by QIAGEN in the DAB2 gene promoter:
  • AML1a
  • C/EBPalpha
  • Elk-1
  • HFH-1
  • Nkx2-2
  • Nkx2-5
  • RORalpha1
  • ZIC2

Genomic Locations for DAB2 Gene

Genomic Locations for DAB2 Gene
chr5:39,371,674-39,462,300
(GRCh38/hg38)
Size:
90,627 bases
Orientation:
Minus strand
chr5:39,371,780-39,462,402
(GRCh37/hg19)
Size:
90,623 bases
Orientation:
Minus strand

Genomic View for DAB2 Gene

Genes around DAB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DAB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DAB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAB2 Gene

Proteins for DAB2 Gene

  • Protein details for DAB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98082-DAB2_HUMAN
    Recommended name:
    Disabled homolog 2
    Protein Accession:
    P98082
    Secondary Accessions:
    • A6NES5
    • Q13598
    • Q9BTY0
    • Q9UK04

    Protein attributes for DAB2 Gene

    Size:
    770 amino acids
    Molecular mass:
    82448 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for DAB2 Gene

    Alternative splice isoforms for DAB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DAB2 Gene

Post-translational modifications for DAB2 Gene

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

No data available for DME Specific Peptides for DAB2 Gene

Domains & Families for DAB2 Gene

Gene Families for DAB2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DAB2 Gene

InterPro:
Blocks:
  • Phosphotyrosine interaction domain
  • Carbohydrate kinase, PfkB
ProtoNet:

Suggested Antigen Peptide Sequences for DAB2 Gene

GenScript: Design optimal peptide antigens:
  • Differentially-expressed protein 2 (DAB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P98082

UniProtKB/Swiss-Prot:

DAB2_HUMAN :
  • 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.
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.
  • 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.
genes like me logo Genes that share domains with DAB2: view

Function for DAB2 Gene

Molecular function for DAB2 Gene

UniProtKB/Swiss-Prot 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 containing 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:
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

Phenotypes From GWAS Catalog for DAB2 Gene

Gene Ontology (GO) - Molecular Function for DAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11387212
GO:0008022 protein C-terminus binding IPI 15837803
GO:0035615 clathrin adaptor activity IMP 16984970
GO:0038024 cargo receptor activity IMP 16984970
GO:0046332 SMAD binding IDA 11387212
genes like me logo Genes that share ontologies with DAB2: view
genes like me logo Genes that share phenotypes with DAB2: view

Animal Models for DAB2 Gene

MGI Knock Outs for DAB2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DAB2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DAB2 Gene

Localization for DAB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAB2 Gene

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DAB2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
lysosome 4
extracellular 2
cytoskeleton 2
endosome 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
  • Vesicles (4)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005765 lysosomal membrane TAS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with DAB2: view

Pathways & Interactions for DAB2 Gene

PathCards logo

SuperPathways for DAB2 Gene

SuperPathway Contained pathways
1 Gap junction trafficking
2 Delta508-CFTR traffic / ER-to-Golgi in CF
.33
.32
.31
3 Clathrin-mediated endocytosis
4 Vesicle-mediated transport
5 Cytoskeletal Signaling
genes like me logo Genes that share pathways with DAB2: view

Pathways by source for DAB2 Gene

4 GeneGo (Thomson Reuters) pathways for DAB2 Gene
  • Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
1 Qiagen pathway for DAB2 Gene
  • SMAD Signaling Network
1 Cell Signaling Technology pathway for DAB2 Gene

SIGNOR curated interactions for DAB2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for DAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IMP 12805222
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis IBA 21873635
GO:0006915 apoptotic process IEA --
GO:0007229 NOT integrin-mediated signaling pathway IMP 19581412
genes like me logo Genes that share ontologies with DAB2: view

Drugs & Compounds for DAB2 Gene

(1) Drugs for DAB2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for DAB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DAB2: view

Transcripts for DAB2 Gene

mRNA/cDNA for DAB2 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DAB2

Alternative Splicing Database (ASD) splice patterns (SP) for DAB2 Gene

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: - - - - - -
SP6: - - -
SP7:
SP8: - - - -
SP9: -
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15: - - -

ExUns: 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:

Relevant External Links for DAB2 Gene

GeneLoc Exon Structure for
DAB2

Expression for DAB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DAB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DAB2 Gene

This gene is overexpressed in Kidney - Cortex (x4.4) and Adrenal Gland (x4.2).

Protein differential expression in normal tissues from HIPED for DAB2 Gene

This gene is overexpressed in Amniocyte (9.2), Placenta (8.8), Kidney (6.6), Peripheral blood mononuclear cells (6.1), and Bone marrow stromal cell (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DAB2 Gene



Protein tissue co-expression partners for DAB2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DAB2

SOURCE GeneReport for Unigene cluster for DAB2 Gene:

Hs.696631

mRNA Expression by UniProt/SwissProt for DAB2 Gene:

P98082-DAB2_HUMAN
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).

Evidence on tissue expression from TISSUES for DAB2 Gene

  • Liver(4.6)
  • Nervous system(4.4)
  • Skin(4.3)
  • Kidney(4)
  • Lung(3.2)
  • Adrenal gland(2.8)
  • Heart(2.7)
  • Intestine(2.6)
  • Spleen(2.5)
  • Blood(2.5)
  • Lymph node(2.4)
  • Muscle(2.3)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with DAB2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DAB2 Gene

Orthologs for DAB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DAB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DAB2 30 31
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DAB2 30 31
  • 91.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DAB2 30 31
  • 89.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dab2 30
  • 86.41 (n)
Mouse
(Mus musculus)
Mammalia Dab2 30 17 31
  • 85.58 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DAB2 31
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DAB2 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DAB2 30 31
  • 70.87 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DAB2 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dab2 30
  • 66.97 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-204c21.1 30
  • 58.77 (n)
dab2 31
  • 44 (a)
OneToOne
Dr.9443 30
Fruit Fly
(Drosophila melanogaster)
Insecta Dab 31
  • 4 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dab-1 31
  • 4 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 6 (a)
OneToMany
Species where no ortholog for DAB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DAB2 Gene

ENSEMBL:
Gene Tree for DAB2 (if available)
TreeFam:
Gene Tree for DAB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DAB2: view image

Paralogs for DAB2 Gene

genes like me logo Genes that share paralogs with DAB2: view

Variants for DAB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DAB2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
708755 Benign: not provided 39,388,861(-) A/T INTRON_VARIANT
712448 Benign: not provided 39,377,028(-) T/C MISSENSE_VARIANT
718436 Likely Benign: not provided 39,382,671(-) T/C MISSENSE_VARIANT
719334 Benign: not provided 39,377,157(-) C/T MISSENSE_VARIANT
737217 Likely Benign: not provided 39,377,218(-) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DAB2 Gene

Structural Variations from Database of Genomic Variants (DGV) for DAB2 Gene

Variant ID Type Subtype PubMed ID
esv1006481 CNV insertion 20482838
esv1469374 CNV insertion 17803354
esv3565836 CNV deletion 23714750
esv3604783 CNV gain 21293372
esv3604789 CNV gain 21293372
nsv327295 CNV insertion 16902084
nsv327367 CNV insertion 16902084
nsv597860 CNV gain 21841781

Variation tolerance for DAB2 Gene

Residual Variation Intolerance Score: 52.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.91; 79.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DAB2 Gene

Human Gene Mutation Database (HGMD)
DAB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DAB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DAB2 Gene

Disorders for DAB2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DAB2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
teratocarcinoma
  • mixed embryonal carcinoma and teratoma
cystic fibrosis
  • cf
lactocele
  • galactocele
hypercholesterolemia, familial, 4
  • fhcl4
deafness, autosomal recessive 17
  • dfnb17
- elite association - COSMIC cancer census association via MalaCards
Search DAB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DAB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DAB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DAB2 Gene

Publications for DAB2 Gene

  1. DOC-2, a candidate tumor suppressor gene in human epithelial ovarian cancer. (PMID: 9620555) Mok SC … Berkowitz RS (Oncogene 1998) 2 3 4 23
  2. Sequence, genomic structure, and chromosomal assignment of human DOC-2. (PMID: 8660969) Albertsen HM … White R (Genomics 1996) 2 3 4 23
  3. The adaptor protein Dab2 sorts LDL receptors into coated pits independently of AP-2 and ARH. (PMID: 16984970) Maurer ME … Cooper JA (Journal of cell science 2006) 3 4 23
  4. The adaptor disabled-2 binds to the third psi xNPxY sequence on the cytoplasmic tail of megalin. (PMID: 15134832) Gallagher H … Newman DJ (Biochimie 2004) 3 4 23
  5. Dab2 links CIN85 with clathrin-mediated receptor internalization. (PMID: 14596919) Kowanetz K … Dikic I (FEBS letters 2003) 3 4 23

Products for DAB2 Gene

  • Signalway ELISA kits for DAB2
  • Signalway Proteins for DAB2

Sources for DAB2 Gene