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DAB2IP Gene

protein-coding   GIFtS: 58
GCID: GC09P124329

DAB2 Interacting Protein

  See related diseases
at  

(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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Aliases
DAB2 Interacting Protein1 2     DAB2 Interaction Protein2 3
AIP12 3 5     KIAA17433 5
ASK1-Interacting Protein 11 2     ASK-Interacting Protein1
DOC-2/DAB2 Interactive Protein1 2     DIP1/22
NGAP-Like Protein1 2     Disabled Homolog 2-Interacting Protein2
AF9Q342 3     DAB2-Interacting Protein3
AIP-12 3     DOC-2/DAB-2 Interactive Protein3
ASK-Interacting Protein 12 3     

External Ids:    HGNC: 172941   Entrez Gene: 1530902   Ensembl: ENSG000001368487   OMIM: 6092055   UniProtKB: Q5VWQ83   

Export aliases for DAB2IP gene to outside databases

Previous GC identifers: GC09P115566 GC09P115975 GC09P117783 GC09P119837 GC09P121541 GC09P123368 GC09P093947


(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 DAB2IP Gene:
DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is
inactivated by methylation in prostate and breast cancers (Yano et al., 2005 (PubMed 15386433)).(supplied by
OMIM, May 2010)

GeneCards Summary for DAB2IP Gene:
DAB2IP (DAB2 interacting protein) is a protein-coding gene. Diseases associated with DAB2IP include arteriosclerosis, and prostatitis. GO annotations related to this gene include protein kinase binding and protein homodimerization activity. An important paralog of this gene is SYNGAP1.

UniProtKB/Swiss-Prot: DAB2P_HUMAN, Q5VWQ8
Function: Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and
specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and
cell growth inhibition, apoptosis, cell survival, angiogenesis, cell migration and maturation. Plays also a role
in cell cycle checkpoint control; reduces G1 phase cyclin levels resulting in G0/G1 cell cycle arrest. Mediates
signal transduction by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF),
interferon (IFN) or lipopolysaccharide (LPS). Modulates the balance between phosphatidylinositol 3-kinase
(PI3K)-AKT-mediated cell survival and apoptosis stimulated kinase (MAP3K5)-JNK signaling pathways; sequesters
both AKT1 and MAP3K5 and counterbalances the activity of each kinase by modulating their phosphorylation status
in response to proinflammatory stimuli. Acts as a regulator of the endoplasmic reticulum (ER) unfolded protein
response (UPR) pathway; specifically involved in transduction of the ER stress-response to the JNK cascade
through ERN1. Mediates TNF-alpha-induced apoptosis activation by facilitating dissociation of inhibitor 14-3-3
from MAP3K5; recruits the PP2A phosphatase complex which dephosphorylates MAP3K5 on 'Ser-966', leading to the
dissociation of 13-3-3 proteins and activation of the MAP3K5-JNK signaling pathway in endothelial cells. Mediates
also TNF/TRAF2-induced MAP3K5-JNK activation, while it inhibits CHUK-NF-kappa-B signaling. Acts a negative
regulator in the IFN-gamma-mediated JAK-STAT signaling cascade by inhibiting smooth muscle cell (VSMCs)
proliferation and intimal expansion, and thus, prevents graft arteriosclerosis (GA). Acts as a GTPase-activating
protein (GAP) for the ADP ribosylation factor 6 (ARF6) and Ras. Promotes hydrolysis of the ARF6-bound GTP and
thus, negatively regulates phosphatidylinositol 4,5-bisphosphate (PIP2)-dependent TLR4-TIRAP-MyD88 and NF-kappa-B
signaling pathways in endothelial cells in response to lipopolysaccharides (LPS). Binds specifically to
phosphatidylinositol 4-phosphate (PtdIns4P) and phosphatidylinositol 3-phosphate (PtdIns3P). In response to
vascular endothelial growth factor (VEGFA), acts as a negative regulator of the VEGFR2-PI3K-mediated angiogenic
signaling pathway by inhibiting endothelial cell migration and tube formation. In the developing brain, promotes
both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from
the ventricular zone toward the superficial layer of the neocortex in a glial-dependent locomotion process.
Probable downstream effector of the Reelin signaling pathway; promotes Purkinje cell (PC) dendrites development
and formation of cerebellar synapses. Functions also as a tumor suppressor protein in prostate cancer
progression; prevents cell proliferation and epithelial-to-mesenchymal transition (EMT) through activation of the
glycogen synthase kinase-3 beta (GSK3B)-induced beta-catenin and inhibition of PI3K-AKT and Ras-MAPK survival
downstream signaling cascades, respectively

Gene Wiki entry for DAB2IP 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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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DAB2IP gene promoter:
         RFX1   MAZR   p53   NF-AT   NF-AT4   NF-AT2   NF-AT3   NF-AT1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDAB2IP promoter sequence
   Search Chromatin IP Primers for DAB2IP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DAB2IP


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

Entrez Gene cytogenetic band: 9q33.1-q33.3   Ensembl cytogenetic band:  9q33.2   HGNC cytogenetic band: 9q33.1-q33.3

DAB2IP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DAB2IP gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P124329:  view genomic region     (about GC identifiers)

Start:
124,329,336 bp from pter      End:
124,547,809 bp from pter
Size:
218,474 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: DAB2P_HUMAN, Q5VWQ8 (See protein sequence)
Recommended Name: Disabled homolog 2-interacting protein  
Size: 1189 amino acids; 131625 Da
Subunit: On plasma membrane, exists in an inactive form complexed with TNFR1; in response to TNF-alpha,
dissociates from TNFR1 complex, tranlocates to cytoplasm and forms part of an intracellular signaling complex
comprising TRADD, RALBP1, TRAF2 and MAP3K5. Interacts with DAB1. Interacts (via NPXY motif) with DAB2 (via PID
domain). Interacts (via PH domain) with ERN1 (By similarity). Part of a cytoplasmic complex made of HIPK1, DAB2IP
and MAP3K5 in response to TNF-alpha; this complex formation promotes MAP3K5-JNK activation and subsequent
apoptosis. Interacts (via N-terminus domain) with JAK2; the interaction occurs in a IFNG/IFN-gamma-dependent
manner and inhibits JAK2 autophosphorylation activity. Interacts (via C2 domain) with GSK3B; the interaction
stimulates GSK3B kinase activation. Interacts (via C2 domain) with PPP2CA. Interacts (via proline-rich motif)
with a regulatory p85 subunit (via SH3 domain) of the PI3K complex; the interaction inhibits the PI3K-AKT complex
activity in a TNF-alpha-dependent manner in prostate cancer (PCa) cells. Interacts with AKT1; the interaction is
increased in a TNF-alpha-induced manner. Interacts (via C2 domain and active form preferentially) with KDR/VEGFR2
(tyrosine-phosphorylated active form preferentially); the interaction occurs at the late phase of VEGFA response
and inhibits KDR/VEGFR2 activity. Interacts (via N-terminus C2 domain) with MAP3K5 ('Ser-966' dephosphorylated
form preferentially); the interaction occurs in a TNF-alpha-induced manner. Interacts (via Ras-GAP domain) with
the catalytic subunit of protein phosphatase PP2A; the interaction occurs in resting endothelial cells, is
further enhanced by TNF-alpha stimulation and is required to bridge PP2A to MAP3K5. Interacts (via C-terminus PER
domain) with TRAF2 (via zinc fingers); the interaction occurs in a TNF-alpha-dependent manner. Interacts with
14-3-3 proteins; the interaction occurs in a TNF-alpha-dependent manner. Interacts (via Ras-GAP domain) with
RIPK1 (via kinase domain); the interaction occurs in a TNF-alpha-dependent manner
Miscellaneous: The DAB2IP gene is found epigenetically silenced in numerous aggressive cancers, like prostate
cancers and medulloblastoma tumors. Epigenetic suppression of DAB2IP by EZH2 is a major mechanism of DAB2IP
inactivation in human prostate cancer and increases metastatic potential (PubMed:20154697, PubMed:22696229)
Sequence caution: Sequence=CAH72155.3; Type=Erroneous gene model prediction;
Secondary accessions: A6H8V2 A6NHI9 B0QZB1 G3XA90 Q8TDL2 Q96SE1 Q9C0C0
Alternative splicing: 5 isoforms:  Q5VWQ8-1   Q5VWQ8-2   Q5VWQ8-3   Q5VWQ8-4   Q5VWQ8-5   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for DAB2IP: NX_Q5VWQ8

Explore proteomics data for DAB2IP at MOPED

Post-translational modifications: 

  • In response to TNF-alpha-induction, phosphorylated at Ser-728; phosphorylation leads to a conformational change,
    and thus, increases its association with 14-3-3 proteins, MAP3K5, RIPK1 and TRAF2 in endothelial cells; also
    stimulates regulatory p85 subunit sequestring and PI3K-p85 complex activity inhibition1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DAB2IP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_115941.2  NP_619723.1  

    ENSEMBL proteins: 
     ENSP00000377872   ENSP00000409327   ENSP00000386183   ENSP00000362887   ENSP00000310827  
     ENSP00000259371  

    DAB2IP Human Recombinant Protein Products:

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    Novus Biologicals DAB2IP Protein
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    Cloud-Clone Corp. Proteins for DAB2IP

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    DAB2IP Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for DAB2IP
    Cloud-Clone Corp. CLIAs for DAB2IP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR001936 RasGAP
     IPR008936 Rho_GTPase_activation_prot
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR023152 RasGAP_CS

    Graphical View of Domain Structure for InterPro Entry Q5VWQ8

    ProtoNet protein and cluster: Q5VWQ8

    2 Blocks protein domains:
    IPB000008 C2 domain
    IPB001936 Ras GTPase-activating protein


    UniProtKB/Swiss-Prot: DAB2P_HUMAN, Q5VWQ8
    Domain: The C2 and Ras-GAP domains constitutively bind to MAP3K5 and facilitate the release of 14-3-3 proteins
    from MAP3K5. The PH and Ras-GAP domains, but not the NPXY motif, are crucial for its cell membrane localization
    and neuronal migration function. The PH domain is necessary but not sufficient to activate the JNK signaling
    pathway through ERN1 (By similarity). Exists in a closed inactive form by an intramolecular interaction between
    the N- and the C-terminus domains. The proline-rich motif is critical both for PI3K-AKT activity inhibition and
    MAP3K5 activation. The PH and C2 domains are necessary for the binding to phosphatidylinositol phosphate. The
    Ras-GAP domain is necessary for its tumor-suppressive function
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Ras-GAP domain


    DAB2IP for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: DAB2P_HUMAN, Q5VWQ8
    Function: Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and
    specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and
    cell growth inhibition, apoptosis, cell survival, angiogenesis, cell migration and maturation. Plays also a role
    in cell cycle checkpoint control; reduces G1 phase cyclin levels resulting in G0/G1 cell cycle arrest. Mediates
    signal transduction by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF),
    interferon (IFN) or lipopolysaccharide (LPS). Modulates the balance between phosphatidylinositol 3-kinase
    (PI3K)-AKT-mediated cell survival and apoptosis stimulated kinase (MAP3K5)-JNK signaling pathways; sequesters
    both AKT1 and MAP3K5 and counterbalances the activity of each kinase by modulating their phosphorylation status
    in response to proinflammatory stimuli. Acts as a regulator of the endoplasmic reticulum (ER) unfolded protein
    response (UPR) pathway; specifically involved in transduction of the ER stress-response to the JNK cascade
    through ERN1. Mediates TNF-alpha-induced apoptosis activation by facilitating dissociation of inhibitor 14-3-3
    from MAP3K5; recruits the PP2A phosphatase complex which dephosphorylates MAP3K5 on 'Ser-966', leading to the
    dissociation of 13-3-3 proteins and activation of the MAP3K5-JNK signaling pathway in endothelial cells. Mediates
    also TNF/TRAF2-induced MAP3K5-JNK activation, while it inhibits CHUK-NF-kappa-B signaling. Acts a negative
    regulator in the IFN-gamma-mediated JAK-STAT signaling cascade by inhibiting smooth muscle cell (VSMCs)
    proliferation and intimal expansion, and thus, prevents graft arteriosclerosis (GA). Acts as a GTPase-activating
    protein (GAP) for the ADP ribosylation factor 6 (ARF6) and Ras. Promotes hydrolysis of the ARF6-bound GTP and
    thus, negatively regulates phosphatidylinositol 4,5-bisphosphate (PIP2)-dependent TLR4-TIRAP-MyD88 and NF-kappa-B
    signaling pathways in endothelial cells in response to lipopolysaccharides (LPS). Binds specifically to
    phosphatidylinositol 4-phosphate (PtdIns4P) and phosphatidylinositol 3-phosphate (PtdIns3P). In response to
    vascular endothelial growth factor (VEGFA), acts as a negative regulator of the VEGFR2-PI3K-mediated angiogenic
    signaling pathway by inhibiting endothelial cell migration and tube formation. In the developing brain, promotes
    both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from
    the ventricular zone toward the superficial layer of the neocortex in a glial-dependent locomotion process.
    Probable downstream effector of the Reelin signaling pathway; promotes Purkinje cell (PC) dendrites development
    and formation of cerebellar synapses. Functions also as a tumor suppressor protein in prostate cancer
    progression; prevents cell proliferation and epithelial-to-mesenchymal transition (EMT) through activation of the
    glycogen synthase kinase-3 beta (GSK3B)-induced beta-catenin and inhibition of PI3K-AKT and Ras-MAPK survival
    downstream signaling cascades, respectively
    Induction: Down-regulated in prostate cancer and medulloblastoma

         Gene Ontology (GO): Selected molecular function terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity ----
    GO:0005099Ras GTPase activator activity ISS--
    GO:0005123death receptor binding IPI15310755
    GO:0005515protein binding IPI12813029
    GO:0017124SH3 domain binding IDA19033661
         
    DAB2IP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DAB2IP:
     Increased viability after born 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dab2ip):
     cellular  homeostasis/metabolism  nervous system  no phenotypic analysis 

    DAB2IP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dab2iptm1.1Wami for DAB2IP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DAB2IP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DAB2IP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DAB2IP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DAB2IP

    miRNA
    Products:
        
    miRTarBase miRNAs that target DAB2IP:
    hsa-let-7b-5p (MIRT052296), hsa-mir-338-3p (MIRT003041), hsa-mir-18a-3p (MIRT040771)

    Block miRNA regulation of human, mouse, rat DAB2IP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DAB2IP (see all 71):
    hsa-miR-323-3p hsa-miR-574-3p hsa-miR-138-2* hsa-miR-149 hsa-miR-4325 hsa-miR-556-3p hsa-miR-376c hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidDAB2IP 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DAB2IP
    Predesigned siRNA for gene silencing in human, mouse, rat DAB2IP

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): DAB2IP (NM_138709)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAB2IP


    (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
    DAB2P_HUMAN, Q5VWQ8: Cytoplasm. Cell membrane; Peripheral membrane protein (Potential). Membrane. Cell
    projection, dendrite (By similarity). Note=Localized in soma and dendrites of Purkinje cells as well as in
    scattered cell bodies in the molecular layer of the cerebellum (By similarity). Colocalizes with TIRAP at the
    plasma membrane. Colocalizes with ARF6 at the plasma membrane and endocytic vesicles. Translocates from the
    plasma membrane to the cytoplasm in response to TNF-alpha. Phosphatidylinositol 4-phosphate (PtdIns4P) binding is
    essential for plasma membrane localization
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    nucleus3

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA15310755
    GO:0030139endocytic vesicle IDA19948740
    GO:0030424axon ISS--

    DAB2IP for ontologies           About GeneDecksing


    (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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    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DAB2IP
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    PTEN Pathway
    Epithelial Adherens Junctions


        Pathway & Disease-focused RT2 Profiler PCR Arrays including DAB2IP: 
              Prostate Cancer in human mouse rat
              Liver Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DAB2IP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for DAB2IP (Q5VWQ81, 2, 3 ENSP000002593714) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K5Q996831, 2, 3, ENSP000003519084EBI-2871881,EBI-476263 MINT-18458 MINT-18459 I2D: score=3 STRING: ENSP00000351908
    DAB2P980823, ENSP000003133914I2D: score=1 STRING: ENSP00000313391
    GRIN1Q055863, ENSP000003606164I2D: score=1 STRING: ENSP00000360616
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    TP63Q9H3D43, ENSP000002647314I2D: score=1 STRING: ENSP00000264731
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 73):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP--
    GO:0000185activation of MAPKKK activity IDA19903888
    GO:0001525angiogenesis IEA--
    GO:0001933negative regulation of protein phosphorylation ISS--
    GO:0006927transformed cell apoptotic process TAS19903888

    DAB2IP for ontologies           About GeneDecksing



    (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)
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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 DAB2IP (DAB2P)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DAB2IP gene (2 alternative transcripts): 
    NM_032552.3  NM_138709.2  

    Unigene Cluster for DAB2IP:

    DAB2 interacting protein
    Hs.522378  [show with all ESTs]
    Unigene Representative Sequence: NM_032552
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394340 ENST00000436835 ENST00000489314 ENST00000408936(uc004blp.3)
    ENST00000465078 ENST00000373782 ENST00000309989(uc004blo.3) ENST00000487716
    ENST00000459906 ENST00000259371(uc004bln.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat DAB2IP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DAB2IP (see all 71):
    hsa-miR-323-3p hsa-miR-574-3p hsa-miR-138-2* hsa-miR-149 hsa-miR-4325 hsa-miR-556-3p hsa-miR-376c hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidDAB2IP 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DAB2IP
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    GenScript: all cDNA clones in your preferred vector (see all 2): DAB2IP (NM_138709)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DAB2IP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DAB2IP
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      QuantiFast Probe-based Assays in human, mouse, rat DAB2IP

    Additional mRNA sequence: 

    AB051530.2 AF367051.1 AK054851.1 AK096378.1 AK096391.1 AK124609.1 AK124610.1 AY032952.1 
    BC011496.1 BC037314.2 BC040911.1 BC127781.1 BC146762.1 

    11 DOTS entries:

    DT.455156  DT.97806367  DT.91721840  DT.92427774  DT.97801048  DT.435196  DT.92427773  DT.121156960 
    DT.121627968  DT.426257  DT.92427760 

    Selected AceView cDNA sequences (see all 273):

    CA432773 BX488182 BQ021388 BU729692 BM976219 CA430652 AI627407 BM704390 
    BQ719987 BU855537 BM719243 T31831 BM811555 BQ218276 BM479436 BX097591 
    BU181593 BG099262 AI362708 BM694368 BE463433 BC040911 AK096378 BU622674 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DAB2IP (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20a ·
    SP1:                                                                                                                                                            
    SP2:              -     -     -                                                                                                                                 
    SP3:                                                                                                                                -           -               
    SP4:        -     -     -     -                                                                                                                                 
    SP5:                                                                                                                                                            

    ExUns: 20b · 20c ^ 21a · 21b
    SP1:                        
    SP2:                        
    SP3:  -     -               
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for DAB2IP

    (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)
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    DAB2IP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTGGGTGA
    DAB2IP Expression
    About this image


    DAB2IP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    DAB2IP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DAB2IP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522378

    UniProtKB/Swiss-Prot: DAB2P_HUMAN, Q5VWQ8
    Tissue specificity: Expressed in endothelial and vascular smooth muscle cells (VSMCs). Expressed in prostate
    epithelial but poorly in prostate cancer cells. Poorly expressed in medulloblastoma cells compared to cerebellar
    precursor proliferating progenitor cells (at protein level). Low expression in prostate. Down-regulated in
    prostate cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DAB2IP: 
              Prostate Cancer in human mouse rat
              Liver Cancer in human mouse rat

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    In Situ
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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)
    About This Section

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DAB2IP gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dab2ip1 , 5 disabled homolog 2 (Drosophila) interacting protein5
    disabled 2 interacting protein1
    90.05(n)1
    97.49(a)1
      2 (23.74 cM)5
    696011  NM_001114124.11  NP_001107596.11 
     355582665 
    chicken
    (Gallus gallus)
    Aves DAB2IP1 DAB2 interacting protein 78.57(n)
    83.68(a)
      417117  XM_004945995.1  XP_004946052.1 
    lizard
    (Anolis carolinensis)
    Reptilia DAB2IP6
    DAB2 interacting protein
    76(a)
    1 ↔ 1
    AAWZ02036756(21-13081)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480178082   -- 78.25(n)    48017808 
    zebrafish
    (Danio rerio)
    Actinopterygii BI880591.12   -- 79.87(n)    BI880591.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG426846
    --
    19(a)
    1 → many
    X(17604178-17645718)
    worm
    (Caenorhabditis elegans)
    Secernentea gap-23 GTPase-activating protein 43(a)   X(9507707-9551128)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BUD26
    GTPase activating factor for Rsr1p/Bud1p required ...
    15(a)
    1 → many
    XI(266145-269459) YKL092C


    ENSEMBL Gene Tree for DAB2IP (if available)
    TreeFam Gene Tree for DAB2IP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DAB2IP gene
    SYNGAP12  RASA42  RASA12  RASAL32  RASA22  RASA4B2  RASAL22  RASA32  
    RASAL12  
    4 SIMAP similar genes for DAB2IP using alignment to 4 protein entries:     DAB2P_HUMAN (see all proteins):
    RASAL2    SYNGAP1    FLJ00087    RASAL3

    DAB2IP for paralogs           About GeneDecksing



    (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 DAB2IP (see all 4334)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1878948771,2
    --124327408(+) GGCACC/TCCAGG 1 -- us2k10--------
    rs1932445631,2
    --124327410(+) CACTCC/TAGGCC 1 -- us2k10--------
    rs736617561,2
    C,F--124327463(+) CTCCCA/TGTCAC 1 -- us2k12Minor allele frequency- T:0.04WA 120
    rs1825865971,2
    --124327632(+) GGTTGA/CGCCCA 1 -- us2k10--------
    rs1877124321,2
    --124327680(+) GTGGCC/TTGGGT 1 -- us2k10--------
    rs713706761,2
    C--124327712(-) CATCT-/A/AA  
            
    CAAAA
    1 -- us2k11NA 2
    rs1112383091,2
    C,F--124327744(+) ATGGAG/CTCTCG 1 -- us2k13Minor allele frequency- C:0.40WA NA CSA 5
    rs1927343391,2
    --124327803(+) ACCTCC/TGCCTC 1 -- us2k10--------
    rs1847745051,2
    --124327851(+) TAGCTA/GGAATT 1 -- us2k10--------
    rs1139120171,2
    C--124327907(+) GAGATGG/-ATGGG 1 -- us2k11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for DAB2IP (124329336 - 124547809 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DAB2IP (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664652CNV Deletion23128226
    esv2739000CNV Deletion23290073
    esv2663576CNV Deletion23128226
    esv2739001CNV Deletion23290073
    esv2014609CNV Deletion18987734
    esv2660491CNV Deletion23128226
    esv2671784CNV Deletion23128226
    esv2670340CNV Deletion23128226
    esv1010772CNV Deletion20482838
    esv2739004CNV Deletion23290073

    Human Gene Mutation Database (HGMD): DAB2IP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DAB2IP
    DNA2.0 Custom Variant and Variant Library Synthesis for DAB2IP

    (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: 609205    OMIM disorders: --

    UniProtKB/Swiss-Prot: DAB2P_HUMAN, Q5VWQ8
  • Note=A chromosomal aberration involving DAB2IP is found in a patient with acute myeloid leukemia (AML).
    Translocation t(9;11)(q34;q23) with KMT2A/MLL1. May give rise to a KMT2A/MLL1-DAB2IP fusion protein lacking the
    PH domain

  • 20 diseases for DAB2IP:    
    About MalaCards
    arteriosclerosis    prostatitis    breast cancer    transitional cell carcinoma
    abdominal aortic aneurysm    medulloblastoma    aortic aneurysm    prostate cancer
    coronary heart disease    periodontitis    acute myeloid leukemia    myeloid leukemia
    hepatocellular carcinoma    leukemia    lung cancer    cerebritis
    multiple myeloma    endotheliitis    myeloma    neuronitis


    DAB2IP for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for DAB2IP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate cancer 41.6 12 11944990 (3), 20154697 (2), 20332235 (2), 16629596 (1) (see all 5)
    necrosis 11.7 4 17389591 (2), 15817459 (1), 18292600 (1)
    tumors 0 7 20154697 (3), 17389591 (2), 15817459 (1), 18292600 (1)

    Genetic Association Database (GAD): DAB2IP
    Human Genome Epidemiology (HuGE) Navigator: DAB2IP (9 documents)

    Export disorders for DAB2IP 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 DAB2IP gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with DAB2IP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Differential regulation of the human gene DAB2IP in normal and malignant prostatic epithelia: cloning and characterization. (PubMed id 11944990)1, 2, 3, 9 Chen H.... Hsieh J.-T. (Genomics 2002)
    2. RIP1-mediated AIP1 phosphorylation at a 14-3-3-binding site is critical for tumor necrosis factor-induced ASK1-JNK/p38 activation. (PubMed id 17389591)1, 2, 9 Zhang H.... Min W. (J. Biol. Chem. 2007)
    3. AIP1 mediates TNF-alpha-induced ASK1 activation by facilitating dissociation of ASK1 from its inhibitor 14-3-3. (PubMed id 12813029)1, 2, 9 Zhang R.... Min W. (J. Clin. Invest. 2003)
    4. AIP1 recruits phosphatase PP2A to ASK1 in tumor necrosis factor- induced ASK1-JNK activation. (PubMed id 18292600)1, 2, 9 Min W....Chen H. (Circ. Res. 2008)
    5. AIP1 functions as Arf6-GAP to negatively regulate TLR4 signaling. (PubMed id 19948740)1, 2, 9 Wan T.... Min W. (J. Biol. Chem. 2010)
    6. AIP1/DAB2IP, a novel member of the Ras-GAP family, transduces TRAF2- induced ASK1-JNK activation. (PubMed id 15310755)1, 2, 9 Zhang H.... Min W. (J. Biol. Chem. 2004)
    7. An oncogene-tumor suppressor cascade drives metastatic prostate cancer by coordinately activating Ras and nuclear factor-kappaB. (PubMed id 20154697)1, 2, 9 Min J.... Cichowski K. (Nat. Med. 2010)
    8. Identification of a novel RAS GTPase-activating protein (RASGAP) gene at 9q34 as an MLL fusion partner in a patient with de novo acute myeloid leukemia. (PubMed id 14978793)1, 2, 9 von Bergh A.R.M.... Schuuring E. (Genes Chromosomes Cancer 2004)
    9. EZH2-regulated DAB2IP is a medulloblastoma tumor suppressor and a positive marker for survival. (PubMed id 22696229)1, 2 Smits M....Wurdinger T. (Clin. Cancer Res. 2012)
    10. Role of DAB2IP in modulating epithelial-to-mesenchymal transition and prostate cancer metastasis. (PubMed id 20080667)1, 2 Xie D....Hsieh J.T. (Proc. Natl. Acad. Sci. U.S.A. 2010)

    (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: 153090 HGNC: 17294 AceView: DAB2IP Ensembl:ENSG00000136848 euGenes: HUgn153090
    ECgene: DAB2IP H-InvDB: DAB2IP

    (According to HUGE)
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    HUGE: KIAA1743

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DAB2IP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DAB2IP 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 DAB2IP gene:
    Search GeneIP for patents involving DAB2IP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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