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DAB2IP (DAB2 interacting protein)

Written2003-08Anne RM von Bergh
Afdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)AF9Q34
DIP1/2
KIAA1743
AIP1
HGNC (Hugo) DAB2IP
LocusID (NCBI) 153090
Atlas_Id 316
Location 9q33.2  [Link to chromosome band 9q33]
Location_base_pair Starts at 124329381 and ends at 124547809 bp from pter ( according to hg19-Feb_2009)  [Mapping DAB2IP.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
CCDC93 (2q14.1) / DAB2IP (9q33.2)CEP85L (6q22.31) / DAB2IP (9q33.2)DAB2IP (9q33.2) / DAB2IP (9q33.2)
DAB2IP (9q33.2) / HTN3 (4q13.3)DAB2IP (9q33.2) / KMT2A (11q23.3)DAB2IP (9q33.2) / SLC44A4 (6p21.33)
EPHA7 (6q16.1) / DAB2IP (9q33.2)KMT2A (11q23.3) / DAB2IP (9q33.2)MAFK (7p22.3) / DAB2IP (9q33.2)
PROX1 (1q32.3) / DAB2IP (9q33.2)TARBP1 (1q42.2) / DAB2IP (9q33.2)
Note centromeric of ABL

DNA/RNA

Description 14 exons stretched over an area of about 84 kb. Exon 1, a noncoding exon, has (at least) three variants.
Transcription in a centromere to telomere direction 5192 bp mRNA; 2903 bp open reading frame.

Protein

Description The AF9q34 protein contains a GAP related domain (GRD), an 'FLR'-motif, a Pleckstrin homology (PH) domain and a calcium/phospho-lipid-binding C2/CALB domain; 967 amino acids.
Expression Expression in all human tissues with a relatively low level of expression in testis, placenta, spleen and peripheral blood leukocytes.
Function RasGAPs negatively regulate the activity of Ras proteins that modulate diverse cellular processes by cycling between the inactive GDP-bound and active GTP-bound state. DAB2 interacting protein.
Homology Homologous to human nGAP (or RAS protein activator like 2 (RASAL2)).

Implicated in

Note
Entity t(9;11)(q34;q23) AML --> MLL-AF9q34
Note Another t(9;11)(q34;q23) AML has been reported with involvement of MLL-FBP17.
Disease Only one case to date, a 62 yr old male patient with Acute Myeloid Leukemia (M5).
Cytogenetics The case was 46, XY, t(9;11)(q34;q23) and in 40% of the metaphases additional chromosomes 8 and 13 were observed.
Hybrid/Mutated Gene 5' MLL fused at exon 9 with the 3' end of AFq34.
 
Schematic representation of MLL, AF9q34, and the putative MLL-AF9q34 fusion protein.
Domains in MLL and AF9q34 are shaded: AT, AT-hook DNA binding motifs; SNL1 and SNL2, speckled nuclear localisation signals 1 and 2; CxxC, cysteine rich motif homologous to DNA methyltransferase (MT); PHD, plant homeodomain fingers; FYRN, FYRN domain; FYRC. FYRC domain; SET, SET domain; PH, Pleckstrin Homology Domain; GRD, GAP Related Domain. Arrows indicate the breakpoint (bp) sites in MLL and AF9q34.
Abnormal Protein The MLL-AF9q34 protein includes the entire GAP related domain (GRD) and the C2/CALB domain, but the PH domain is disrupted by the breakpoint in AF9q34.
  

Bibliography

Differential regulation of the human gene DAB2IP in normal and malignant prostatic epithelia: cloning and characterization.
Chen H, Pong RC, Wang Z, Hsieh JT
Genomics. 2002 ; 79 (4) : 573-581.
PMID 11944990
 
Cloning of unknown MLL fusion transcripts identifies two novel MLL fusion partners.
von Bergh A, Beverloo B, Slater R, Groot A, Rombout P, Kluin P, Schuuring E
Blood. 2000 ; 96 (numero Suppl 1).
 

Citation

This paper should be referenced as such :
von Bergh, ARM
DAB2IP (DAB2 interacting protein)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):214-215.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/AF9q34ID316.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  11q23 rearrangements (KMT2A) in leukaemia
t(1;9)(p13;p12) PAX5/HIPK1
t(9;11)(q34;q23) KMT2A/DAB2IP


External links

Nomenclature
HGNC (Hugo)DAB2IP   17294
Cards
AtlasAF9q34ID316
Entrez_Gene (NCBI)DAB2IP  153090  DAB2 interacting protein
AliasesAF9Q34; AIP-1; AIP1; DIP1/2
GeneCards (Weizmann)DAB2IP
Ensembl hg19 (Hinxton)ENSG00000136848 [Gene_View]  chr9:124329381-124547809 [Contig_View]  DAB2IP [Vega]
Ensembl hg38 (Hinxton)ENSG00000136848 [Gene_View]  chr9:124329381-124547809 [Contig_View]  DAB2IP [Vega]
ICGC DataPortalENSG00000136848
TCGA cBioPortalDAB2IP
AceView (NCBI)DAB2IP
Genatlas (Paris)DAB2IP
WikiGenes153090
SOURCE (Princeton)DAB2IP
Genetics Home Reference (NIH)DAB2IP
Genomic and cartography
GoldenPath hg19 (UCSC)DAB2IP  -     chr9:124329381-124547809 +  9q33.1-q33.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DAB2IP  -     9q33.1-q33.3   [Description]    (hg38-Dec_2013)
EnsemblDAB2IP - 9q33.1-q33.3 [CytoView hg19]  DAB2IP - 9q33.1-q33.3 [CytoView hg38]
Mapping of homologs : NCBIDAB2IP [Mapview hg19]  DAB2IP [Mapview hg38]
OMIM609205   
Gene and transcription
Genbank (Entrez)AB051530 AF367051 AK054851 AK096378 AK096391
RefSeq transcript (Entrez)NM_032552 NM_138709
RefSeq genomic (Entrez)NC_000009 NC_018920 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)DAB2IP
Cluster EST : UnigeneHs.522378 [ NCBI ]
CGAP (NCI)Hs.522378
Alternative Splicing GalleryENSG00000136848
Gene ExpressionDAB2IP [ NCBI-GEO ]   DAB2IP [ EBI - ARRAY_EXPRESS ]   DAB2IP [ SEEK ]   DAB2IP [ MEM ]
Gene Expression Viewer (FireBrowse)DAB2IP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)153090
GTEX Portal (Tissue expression)DAB2IP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VWQ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VWQ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VWQ8
Splice isoforms : SwissVarQ5VWQ8
PhosPhoSitePlusQ5VWQ8
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RAS_GTPASE_ACTIV_1 (PS00509)    RAS_GTPASE_ACTIV_2 (PS50018)   
Domains : Interpro (EBI)C2_dom    DAB2IP    DUF3498    PH_dom-like    PH_domain    RasGAP_CS    RasGAP_dom    Rho_GTPase_activation_prot   
Domain families : Pfam (Sanger)C2 (PF00168)    DUF3498 (PF12004)    RasGAP (PF00616)   
Domain families : Pfam (NCBI)pfam00168    pfam12004    pfam00616   
Domain families : Smart (EMBL)C2 (SM00239)  PH (SM00233)  RasGAP (SM00323)  
Conserved Domain (NCBI)DAB2IP
DMDM Disease mutations153090
Blocks (Seattle)DAB2IP
SuperfamilyQ5VWQ8
Human Protein AtlasENSG00000136848
Peptide AtlasQ5VWQ8
HPRD09903
IPIIPI00789361   IPI00646394   IPI00045600   IPI00742660   IPI00914911   IPI00878837   IPI00872792   
Protein Interaction databases
DIP (DOE-UCLA)Q5VWQ8
IntAct (EBI)Q5VWQ8
FunCoupENSG00000136848
BioGRIDDAB2IP
STRING (EMBL)DAB2IP
ZODIACDAB2IP
Ontologies - Pathways
QuickGOQ5VWQ8
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  MAPK cascade  activation of MAPKKK activity  angiogenesis  negative regulation of protein phosphorylation  negative regulation of protein phosphorylation  GTPase activator activity  death receptor binding  protein binding  cytoplasm  cytosol  plasma membrane  transformed cell apoptotic process  inflammatory response  activation of signaling protein activity involved in unfolded protein response  cell cycle  I-kappaB phosphorylation  activation of JUN kinase activity  negative regulation of cell proliferation  extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of endothelial cell migration  negative regulation of epithelial cell migration  negative regulation of epithelial cell migration  negative regulation of epithelial to mesenchymal transition  negative regulation of epithelial to mesenchymal transition  positive regulation of neuron projection development  negative regulation of phosphatidylinositol 3-kinase signaling  negative regulation of angiogenesis  SH3 domain binding  kinase binding  protein kinase binding  protein kinase binding  cell motility involved in cerebral cortex radial glia guided migration  layer formation in cerebral cortex  endocytic vesicle  axon  dendrite  negative regulation of vascular endothelial growth factor receptor signaling pathway  intrinsic component of the cytoplasmic side of the plasma membrane  mitogen-activated protein kinase kinase binding  mitogen-activated protein kinase kinase kinase binding  negative regulation of NF-kappaB transcription factor activity  phosphatidylinositol-3-phosphate binding  protein complex binding  neuronal cell body membrane  negative regulation of toll-like receptor 4 signaling pathway  negative regulation of GTPase activity  negative regulation of GTPase activity  tube formation  negative regulation of catenin import into nucleus  signaling adaptor activity  Toll-like receptor 4 binding  cellular response to vascular endothelial growth factor stimulus  cellular response to vascular endothelial growth factor stimulus  phosphatidylinositol 3-kinase regulatory subunit binding  vascular endothelial growth factor receptor-2 signaling pathway  reelin-mediated signaling pathway  regulation of growth  negative regulation of epidermal growth factor receptor signaling pathway  identical protein binding  protein homodimerization activity  neuronal cell body  positive regulation of apoptotic process  regulation of GTPase activity  regulation of I-kappaB kinase/NF-kappaB signaling  negative regulation of I-kappaB kinase/NF-kappaB signaling  vascular endothelial growth factor receptor 2 binding  regulation of protein complex assembly  negative regulation of MAP kinase activity  negative regulation of MAP kinase activity  positive regulation of MAPK cascade  regulation of protein heterodimerization activity  positive regulation of JUN kinase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  phosphatidylinositol 3-kinase binding  negative regulation of phosphatidylinositol 3-kinase activity  cellular protein catabolic process  cerebellar mossy fiber  climbing fiber  innate immune response  positive regulation of protein catabolic process  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of JNK cascade  negative regulation of Ras protein signal transduction  negative regulation of Ras protein signal transduction  negative regulation of fibroblast proliferation  neuron projection morphogenesis  negative regulation of epithelial cell proliferation  protein phosphatase 2A binding  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  extracellular exosome  phosphatidylinositol-4-phosphate binding  negative regulation of G0 to G1 transition  negative regulation of ERK1 and ERK2 cascade  positive regulation of cell cycle arrest  cellular response to lipopolysaccharide  cellular response to interleukin-1  cellular response to tumor necrosis factor  cellular response to epidermal growth factor stimulus  14-3-3 protein binding  negative regulation of protein serine/threonine kinase activity  negative regulation of protein serine/threonine kinase activity  positive regulation of protein serine/threonine kinase activity  positive regulation of protein serine/threonine kinase activity  endothelial cell apoptotic process  negative regulation of canonical Wnt signaling pathway  positive regulation of synapse maturation  positive regulation of dendrite development  regulation of p38MAPK cascade  negative regulation of vascular endothelial growth factor signaling pathway  positive regulation of proteasomal protein catabolic process  positive regulation of IRE1-mediated unfolded protein response  parallel fiber  AIP1-IRE1 complex  negative regulation of cyclin catabolic process  positive regulation of neuron migration  positive regulation of apoptotic signaling pathway  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  MAPK cascade  activation of MAPKKK activity  angiogenesis  negative regulation of protein phosphorylation  negative regulation of protein phosphorylation  GTPase activator activity  death receptor binding  protein binding  cytoplasm  cytosol  plasma membrane  transformed cell apoptotic process  inflammatory response  activation of signaling protein activity involved in unfolded protein response  cell cycle  I-kappaB phosphorylation  activation of JUN kinase activity  negative regulation of cell proliferation  extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of endothelial cell migration  negative regulation of epithelial cell migration  negative regulation of epithelial cell migration  negative regulation of epithelial to mesenchymal transition  negative regulation of epithelial to mesenchymal transition  positive regulation of neuron projection development  negative regulation of phosphatidylinositol 3-kinase signaling  negative regulation of angiogenesis  SH3 domain binding  kinase binding  protein kinase binding  protein kinase binding  cell motility involved in cerebral cortex radial glia guided migration  layer formation in cerebral cortex  endocytic vesicle  axon  dendrite  negative regulation of vascular endothelial growth factor receptor signaling pathway  intrinsic component of the cytoplasmic side of the plasma membrane  mitogen-activated protein kinase kinase binding  mitogen-activated protein kinase kinase kinase binding  negative regulation of NF-kappaB transcription factor activity  phosphatidylinositol-3-phosphate binding  protein complex binding  neuronal cell body membrane  negative regulation of toll-like receptor 4 signaling pathway  negative regulation of GTPase activity  negative regulation of GTPase activity  tube formation  negative regulation of catenin import into nucleus  signaling adaptor activity  Toll-like receptor 4 binding  cellular response to vascular endothelial growth factor stimulus  cellular response to vascular endothelial growth factor stimulus  phosphatidylinositol 3-kinase regulatory subunit binding  vascular endothelial growth factor receptor-2 signaling pathway  reelin-mediated signaling pathway  regulation of growth  negative regulation of epidermal growth factor receptor signaling pathway  identical protein binding  protein homodimerization activity  neuronal cell body  positive regulation of apoptotic process  regulation of GTPase activity  regulation of I-kappaB kinase/NF-kappaB signaling  negative regulation of I-kappaB kinase/NF-kappaB signaling  vascular endothelial growth factor receptor 2 binding  regulation of protein complex assembly  negative regulation of MAP kinase activity  negative regulation of MAP kinase activity  positive regulation of MAPK cascade  regulation of protein heterodimerization activity  positive regulation of JUN kinase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  phosphatidylinositol 3-kinase binding  negative regulation of phosphatidylinositol 3-kinase activity  cellular protein catabolic process  cerebellar mossy fiber  climbing fiber  innate immune response  positive regulation of protein catabolic process  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of JNK cascade  negative regulation of Ras protein signal transduction  negative regulation of Ras protein signal transduction  negative regulation of fibroblast proliferation  neuron projection morphogenesis  negative regulation of epithelial cell proliferation  protein phosphatase 2A binding  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  extracellular exosome  phosphatidylinositol-4-phosphate binding  negative regulation of G0 to G1 transition  negative regulation of ERK1 and ERK2 cascade  positive regulation of cell cycle arrest  cellular response to lipopolysaccharide  cellular response to interleukin-1  cellular response to tumor necrosis factor  cellular response to epidermal growth factor stimulus  14-3-3 protein binding  negative regulation of protein serine/threonine kinase activity  negative regulation of protein serine/threonine kinase activity  positive regulation of protein serine/threonine kinase activity  positive regulation of protein serine/threonine kinase activity  endothelial cell apoptotic process  negative regulation of canonical Wnt signaling pathway  positive regulation of synapse maturation  positive regulation of dendrite development  regulation of p38MAPK cascade  negative regulation of vascular endothelial growth factor signaling pathway  positive regulation of proteasomal protein catabolic process  positive regulation of IRE1-mediated unfolded protein response  parallel fiber  AIP1-IRE1 complex  negative regulation of cyclin catabolic process  positive regulation of neuron migration  positive regulation of apoptotic signaling pathway  
REACTOMEQ5VWQ8 [protein]
REACTOME PathwaysR-HSA-5658442 Regulation of RAS by GAPs [pathway]
NDEx NetworkDAB2IP
Atlas of Cancer Signalling NetworkDAB2IP
Wikipedia pathwaysDAB2IP
Orthology - Evolution
OrthoDB153090
GeneTree (enSembl)ENSG00000136848
Phylogenetic Trees/Animal Genes : TreeFamDAB2IP
HOVERGENQ5VWQ8
HOGENOMQ5VWQ8
Homologs : HomoloGeneDAB2IP
Homology/Alignments : Family Browser (UCSC)DAB2IP
Gene fusions - Rearrangements
Fusion : MitelmanDAB2IP/HTN3 [9q33.2/4q13.3]  
Fusion : MitelmanDAB2IP/SLC44A4 [9q33.2/6p21.33]  [t(6;9)(p21;q33)]  
Fusion : COSMICDAB2IP [9q33.2]  -  KMT2A [11q23.3]  [fusion_1855]  
Fusion : COSMICKMT2A [11q23.3]  -  DAB2IP [9q33.2]  [fusion_1853]  [fusion_1854]  
Fusion: TCGADAB2IP 9q33.2 HTN3 4q13.3 BRCA
Fusion: TCGADAB2IP 9q33.2 SLC44A4 6p21.33 OV
Fusion : TICdbKMT2A [11q23.3]  -  DAB2IP [9q33.2]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDAB2IP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DAB2IP
dbVarDAB2IP
ClinVarDAB2IP
1000_GenomesDAB2IP 
Exome Variant ServerDAB2IP
ExAC (Exome Aggregation Consortium)DAB2IP (select the gene name)
Genetic variants : HAPMAP153090
Genomic Variants (DGV)DAB2IP [DGVbeta]
DECIPHER (Syndromes)9:124329381-124547809  ENSG00000136848
CONAN: Copy Number AnalysisDAB2IP 
Mutations
ICGC Data PortalDAB2IP 
TCGA Data PortalDAB2IP 
Broad Tumor PortalDAB2IP
OASIS PortalDAB2IP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDAB2IP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDAB2IP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DAB2IP
DgiDB (Drug Gene Interaction Database)DAB2IP
DoCM (Curated mutations)DAB2IP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DAB2IP (select a term)
intoGenDAB2IP
NCG5 (London)DAB2IP
Cancer3DDAB2IP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609205   
Orphanet
MedgenDAB2IP
Genetic Testing Registry DAB2IP
NextProtQ5VWQ8 [Medical]
TSGene153090
GENETestsDAB2IP
Huge Navigator DAB2IP [HugePedia]
snp3D : Map Gene to Disease153090
BioCentury BCIQDAB2IP
ClinGenDAB2IP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD153090
Chemical/Pharm GKB GenePA27133
Clinical trialDAB2IP
Miscellaneous
canSAR (ICR)DAB2IP (select the gene name)
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDAB2IP
EVEXDAB2IP
GoPubMedDAB2IP
iHOPDAB2IP
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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