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Aliases for DAB2IP Gene

Aliases for DAB2IP Gene

  • DAB2 Interacting Protein 2 3
  • AIP1 3 4 6
  • DOC-2/DAB2 Interactive Protein 2 3
  • ASK1-Interacting Protein 1 2 3
  • ASK-Interacting Protein 1 3 4
  • DAB2 Interaction Protein 3 4
  • NGAP-Like Protein 2 3
  • KIAA1743 4 6
  • AF9Q34 3 4
  • Aip-1 3 4
  • Disabled Homolog 2-Interacting Protein 3
  • DOC-2/DAB-2 Interactive Protein 4
  • DAB2-Interacting Protein 4
  • ASK-Interacting Protein 2
  • DIP1/2 3

External Ids for DAB2IP Gene

Previous GeneCards Identifiers for DAB2IP Gene

  • GC09P115566
  • GC09P115975
  • GC09P117783
  • GC09P119837
  • GC09P123368
  • GC09P124329
  • GC09P093947

Summaries for DAB2IP Gene

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 prostate cancer. Among its related pathways are PAK Pathway and Phospholipase-C Pathway. GO annotations related to this gene include protein homodimerization activity and protein kinase binding. An important paralog of this gene is RASA2.

UniProtKB/Swiss-Prot for DAB2IP Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DAB2IP Gene

Genomics for DAB2IP Gene

Regulatory Elements for DAB2IP Gene

Genomic Location for DAB2IP Gene

Start:
121,566,883 bp from pter
End:
121,785,530 bp from pter
Size:
218,648 bases
Orientation:
Plus strand

Genomic View for DAB2IP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DAB2IP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAB2IP Gene

Proteins for DAB2IP Gene

  • Protein details for DAB2IP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VWQ8-DAB2P_HUMAN
    Recommended name:
    Disabled homolog 2-interacting protein
    Protein Accession:
    Q5VWQ8
    Secondary Accessions:
    • A6H8V2
    • A6NHI9
    • B0QZB1
    • G3XA90
    • Q8TDL2
    • Q96SE1
    • Q9C0C0

    Protein attributes for DAB2IP Gene

    Size:
    1189 amino acids
    Molecular mass:
    131625 Da
    Quaternary structure:
    • 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-terminal 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).
    SequenceCaution:
    • Sequence=CAH72155.3; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for DAB2IP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DAB2IP Gene

Proteomics data for DAB2IP Gene at MOPED

Post-translational modifications for DAB2IP Gene

  • 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 inhibition.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DAB2IP Gene

No data available for DME Specific Peptides for DAB2IP Gene

Domains for DAB2IP Gene

Graphical View of Domain Structure for InterPro Entry

Q5VWQ8

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-terminal 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.
  • Contains 1 C2 domain.
  • Contains 1 PH domain.
  • Contains 1 Ras-GAP domain.
genes like me logo Genes that share domains with DAB2IP: view

No data available for Gene Families for DAB2IP Gene

Function for DAB2IP Gene

Molecular function for DAB2IP Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: Down-regulated in prostate cancer and medulloblastoma.

Gene Ontology (GO) - Molecular Function for DAB2IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005123 death receptor binding IPI 15310755
GO:0005515 protein binding IPI 12813029
GO:0017124 SH3 domain binding IDA 19033661
GO:0019900 kinase binding IPI 17389591
genes like me logo Genes that share ontologies with DAB2IP: view
genes like me logo Genes that share phenotypes with DAB2IP: view

Animal Models for DAB2IP Gene

MGI Knock Outs for DAB2IP:

miRNA for DAB2IP Gene

miRTarBase miRNAs that target DAB2IP

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DAB2IP Gene

Localization for DAB2IP Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAB2IP Gene

Cytoplasm. Cell membrane; Peripheral membrane protein. Membrane. Cell projection, dendrite. 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. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DAB2IP Gene COMPARTMENTS Subcellular localization image for DAB2IP gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for DAB2IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005737 cytoplasm IDA 15310755
GO:0005886 plasma membrane IDA 15310755
GO:0030139 endocytic vesicle IDA 19948740
GO:0030424 axon ISS --
genes like me logo Genes that share ontologies with DAB2IP: view

Pathways for DAB2IP Gene

genes like me logo Genes that share pathways with DAB2IP: view

Pathways by source for DAB2IP Gene

Gene Ontology (GO) - Biological Process for DAB2IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 20154697
GO:0000185 activation of MAPKKK activity IDA 19903888
GO:0001525 angiogenesis IEA --
GO:0001933 negative regulation of protein phosphorylation ISS --
GO:0006927 transformed cell apoptotic process TAS 19903888
genes like me logo Genes that share ontologies with DAB2IP: view

Transcripts for DAB2IP Gene

Unigene Clusters for DAB2IP Gene

DAB2 interacting protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DAB2IP Gene

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:
SP6: - -
SP7: -
SP8:
SP9: -
SP10:

ExUns: 20b · 20c ^ 21a · 21b
SP1:
SP2:
SP3: - -
SP4:
SP5:
SP6:
SP7: - -
SP8:
SP9:
SP10:

Relevant External Links for DAB2IP Gene

GeneLoc Exon Structure for
DAB2IP
ECgene alternative splicing isoforms for
DAB2IP

Expression for DAB2IP Gene

mRNA expression in normal human tissues for DAB2IP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DAB2IP Gene

This gene is overexpressed in Brain - Cerebellum (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DAB2IP Gene

SOURCE GeneReport for Unigene cluster for DAB2IP Gene Hs.522378

mRNA Expression by UniProt/SwissProt for DAB2IP Gene

Q5VWQ8-DAB2P_HUMAN
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.
genes like me logo Genes that share expressions with DAB2IP: view

Orthologs for DAB2IP Gene

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

Orthologs for DAB2IP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DAB2IP 35
  • 99.22 (n)
  • 99.01 (a)
DAB2IP 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DAB2IP 35
  • 90.5 (n)
  • 96.77 (a)
DAB2IP 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DAB2IP 35
  • 91.76 (n)
  • 97.13 (a)
DAB2IP 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dab2ip 35
  • 90.05 (n)
  • 97.49 (a)
Dab2ip 16
Dab2ip 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DAB2IP 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DAB2IP 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dab2ip 35
  • 90.67 (n)
  • 97.79 (a)
chicken
(Gallus gallus)
Aves DAB2IP 35
  • 78.57 (n)
  • 83.68 (a)
DAB2IP 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DAB2IP 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dab2ip 35
  • 73.95 (n)
  • 80.58 (a)
Str.12274 35
zebrafish
(Danio rerio)
Actinopterygii dab2ipa 35
  • 72.65 (n)
  • 75.43 (a)
dab2ipa 36
  • 73 (a)
OneToMany
dab2ipb 36
  • 71 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42684 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gap-2 36
  • 26 (a)
OneToMany
gap-2 37
  • 43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD2 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6146 36
  • 31 (a)
OneToMany
Species with no ortholog for DAB2IP:
  • A. gosspyii yeast (Ashbya 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)
  • 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 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 DAB2IP Gene

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

Paralogs for DAB2IP Gene

Paralogs for DAB2IP Gene

Selected SIMAP similar genes for DAB2IP Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DAB2IP: view

Variants for DAB2IP Gene

Sequence variations from dbSNP and Humsavar for DAB2IP Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs476807 -- 121,575,426(-) ATCTT(C/T)GACTC intron-variant
rs476951 -- 121,575,483(-) ACATT(C/T)GGTGG intron-variant
rs480270 -- 121,631,629(-) CATTT(G/T)GGCCA intron-variant
rs480935 -- 121,620,191(+) ACTCC(C/T)GCTGC intron-variant
rs481137 -- 121,631,543(+) cccga(C/T)gcggt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DAB2IP Gene

Variant ID Type Subtype PubMed ID
nsv831712 CNV Loss 17160897
nsv520039 CNV Loss 19592680
nsv471468 CNV Deletion 19718026
esv29959 CNV Loss 18421352
esv2663571 CNV Deletion 23128226
nsv893814 CNV Gain 21882294
esv2656816 CNV Deletion 23128226
esv2739000 CNV Deletion 23290073
esv2381592 CNV Deletion 18987734
esv2670842 CNV Deletion 23128226
nsv893815 CNV Gain 21882294
esv2670340 CNV Deletion 23128226
esv5432 CNV Deletion 18987735
esv2671784 CNV Deletion 23128226
esv2739001 CNV Deletion 23290073
esv2739002 CNV Deletion 23290073
esv2014609 CNV Deletion 18987734
esv2739003 CNV Deletion 23290073
esv1010772 CNV Deletion 20482838
esv2739004 CNV Deletion 23290073
esv2677821 CNV Deletion 23128226
nsv518762 CNV Gain 19592680
esv2664652 CNV Deletion 23128226
dgv8279n71 CNV Loss 21882294
esv2739005 CNV Deletion 23290073
esv2660491 CNV Deletion 23128226
esv2663576 CNV Deletion 23128226

Relevant External Links for DAB2IP Gene

HapMap Linkage Disequilibrium report
DAB2IP
Human Gene Mutation Database (HGMD)
DAB2IP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DAB2IP Gene

Disorders for DAB2IP Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for DAB2IP Gene including...

Search for DAB2IP Gene in MalaCards »

UniProtKB/Swiss-Prot

DAB2P_HUMAN
  • 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.

(3) Novoseek inferred disease relationships for DAB2IP Gene

Disease -log(P) Hits PubMed IDs
prostate cancer 41.6 9
necrosis 11.7 4
tumors 0 7

Relevant External Links for DAB2IP

Genetic Association Database (GAD)
DAB2IP
Human Genome Epidemiology (HuGE) Navigator
DAB2IP
genes like me logo Genes that share disorders with DAB2IP: view

Publications for DAB2IP Gene

  1. Differential regulation of the human gene DAB2IP in normal and malignant prostatic epithelia: cloning and characterization. (PMID: 11944990) Chen H. … Hsieh J.-T. (Genomics 2002) 2 3 4 23
  2. RIP1-mediated AIP1 phosphorylation at a 14-3-3-binding site is critical for tumor necrosis factor-induced ASK1-JNK/p38 activation. (PMID: 17389591) Zhang H. … Min W. (J. Biol. Chem. 2007) 3 4 23
  3. AIP1 recruits phosphatase PP2A to ASK1 in tumor necrosis factor- induced ASK1-JNK activation. (PMID: 18292600) Min W. … Chen H. (Circ. Res. 2008) 3 4 23
  4. AIP1 mediates TNF-alpha-induced ASK1 activation by facilitating dissociation of ASK1 from its inhibitor 14-3-3. (PMID: 12813029) Zhang R. … Min W. (J. Clin. Invest. 2003) 3 4 23
  5. 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. (PMID: 14978793) von Bergh A.R.M. … Schuuring E. (Genes Chromosomes Cancer 2004) 3 4 23

Products for DAB2IP Gene

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