Human Gene DAB2IP (uc004blp.3) Description and Page Index
  Description: Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.
RefSeq Summary (NM_138709): 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].
Transcript (Including UTRs)
   Position: hg19 chr9:124,530,711-124,547,809 Size: 17,099 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr9:124,530,733-124,545,824 Size: 15,092 Coding Exon Count: 8 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr9:124,530,711-124,547,809)mRNA (may differ from genome)Protein (565 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
PubMedStanford SOURCEUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DAB2IP
CDC HuGE Published Literature: DAB2IP
Positive Disease Associations: Aortic Aneurysm, Abdominal , Phosphorus
Related Studies:
  1. Aortic Aneurysm, Abdominal
    Solveig Gretarsdottir et al. Nature genetics 2010, Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm., Nature genetics. [PubMed 20622881]
  2. Phosphorus
    Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903292]
    Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.

-  MalaCards Disease Associations
  MalaCards Gene Search: DAB2IP
Diseases sorted by gene-association score: medulloblastoma (13), prostate cancer (11), prostate cancer susceptibility (4), arteriosclerosis (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 92.36 RPKM in Brain - Cerebellum
Total median expression: 879.29 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00220.000 Picture PostScript Text
3' UTR -856.881985-0.432 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021887 - DUF3498
IPR008936 - Rho_GTPase_activation_prot

Pfam Domains:
PF12004 - Domain of unknown function (DUF3498)

SCOP Domains:
48350 - GTPase activation domain, GAP

ModBase Predicted Comparative 3D Structure on B3KW96
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity

Biological Process:
GO:0008285 negative regulation of cell proliferation
GO:0016525 negative regulation of angiogenesis
GO:0030948 negative regulation of vascular endothelial growth factor receptor signaling pathway
GO:0038026 reelin-mediated signaling pathway
GO:0043065 positive regulation of apoptotic process
GO:0043087 regulation of GTPase activity
GO:0043547 positive regulation of GTPase activity

-  Descriptions from all associated GenBank mRNAs
  AK096391 - Homo sapiens cDNA FLJ39072 fis, clone NT2RP7015996, moderately similar to Rattus norvegicus p135 SynGAP mRNA.
AF367051 - Homo sapiens DOC-2/DAB2 interactive protein mRNA, complete cds.
AY032952 - Homo sapiens nGAP-like protein (AF9q34) mRNA, complete cds.
AB384283 - Synthetic construct DNA, clone: pF1KSDA1743, Homo sapiens DAB2IP gene for disabled homolog 2-interacting protein, complete cds, without stop codon, in Flexi system.
KJ903897 - Synthetic construct Homo sapiens clone ccsbBroadEn_13291 DAB2IP gene, encodes complete protein.
AB051530 - Homo sapiens mRNA for KIAA1743 protein, partial cds.
BC146762 - Homo sapiens DAB2 interacting protein, mRNA (cDNA clone MGC:166831 IMAGE:9007201), complete cds.
AK124610 - Homo sapiens cDNA FLJ42619 fis, clone BRACE3015027, highly similar to Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.
AK124609 - Homo sapiens cDNA FLJ42618 fis, clone BRACE3014942, moderately similar to Homo sapiens RAS protein activator like 2 (RASAL2).
AK054851 - Homo sapiens cDNA FLJ30289 fis, clone BRACE2002861.
BC037314 - Homo sapiens DAB2 interacting protein, mRNA (cDNA clone IMAGE:5258905).
AK096378 - Homo sapiens cDNA FLJ39059 fis, clone NT2RP7013573.
JD462526 - Sequence 443550 from Patent EP1572962.
JD178790 - Sequence 159814 from Patent EP1572962.
JD125281 - Sequence 106305 from Patent EP1572962.
JD125282 - Sequence 106306 from Patent EP1572962.
JD536308 - Sequence 517332 from Patent EP1572962.
JD549756 - Sequence 530780 from Patent EP1572962.
JD195693 - Sequence 176717 from Patent EP1572962.
JD167380 - Sequence 148404 from Patent EP1572962.
JD068094 - Sequence 49118 from Patent EP1572962.
JD444460 - Sequence 425484 from Patent EP1572962.
JD171438 - Sequence 152462 from Patent EP1572962.
JD157368 - Sequence 138392 from Patent EP1572962.
JD071695 - Sequence 52719 from Patent EP1572962.
JD123374 - Sequence 104398 from Patent EP1572962.
JD045759 - Sequence 26783 from Patent EP1572962.
JD051788 - Sequence 32812 from Patent EP1572962.
JD449560 - Sequence 430584 from Patent EP1572962.
JD343854 - Sequence 324878 from Patent EP1572962.
JD496403 - Sequence 477427 from Patent EP1572962.
JD392749 - Sequence 373773 from Patent EP1572962.
JD161789 - Sequence 142813 from Patent EP1572962.
JD547127 - Sequence 528151 from Patent EP1572962.
JD113814 - Sequence 94838 from Patent EP1572962.
JD495927 - Sequence 476951 from Patent EP1572962.
JD392944 - Sequence 373968 from Patent EP1572962.
JD252101 - Sequence 233125 from Patent EP1572962.
JD256378 - Sequence 237402 from Patent EP1572962.
JD271188 - Sequence 252212 from Patent EP1572962.
JD394201 - Sequence 375225 from Patent EP1572962.
JD373795 - Sequence 354819 from Patent EP1572962.
JD195271 - Sequence 176295 from Patent EP1572962.
BC011496 - Homo sapiens DAB2 interacting protein, mRNA (cDNA clone IMAGE:4158465).
JD271237 - Sequence 252261 from Patent EP1572962.
JD480128 - Sequence 461152 from Patent EP1572962.
JD260119 - Sequence 241143 from Patent EP1572962.
JD378914 - Sequence 359938 from Patent EP1572962.
JD150974 - Sequence 131998 from Patent EP1572962.
JD466431 - Sequence 447455 from Patent EP1572962.
JD210958 - Sequence 191982 from Patent EP1572962.
JD221063 - Sequence 202087 from Patent EP1572962.
JD368847 - Sequence 349871 from Patent EP1572962.
JD158169 - Sequence 139193 from Patent EP1572962.
JD079764 - Sequence 60788 from Patent EP1572962.
JD441857 - Sequence 422881 from Patent EP1572962.
JD566941 - Sequence 547965 from Patent EP1572962.
JD023190 - Sequence 4214 from Patent EP1572962.
JD032457 - Sequence 13481 from Patent EP1572962.
JD308619 - Sequence 289643 from Patent EP1572962.
JD056123 - Sequence 37147 from Patent EP1572962.
JD124509 - Sequence 105533 from Patent EP1572962.
JD123983 - Sequence 105007 from Patent EP1572962.
JD408114 - Sequence 389138 from Patent EP1572962.
JD360926 - Sequence 341950 from Patent EP1572962.
JD058484 - Sequence 39508 from Patent EP1572962.
JD432987 - Sequence 414011 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK124610, B3KW96, B3KW96_HUMAN, NM_138709, NP_619723
UCSC ID: uc004blp.3
RefSeq Accession: NM_138709
Protein: B3KW96

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: AK124610.1
exon count: 8CDS single in 3' UTR: no RNA size: 3639
ORF size: 1698CDS single in intron: no Alignment % ID: 99.97
txCdsPredict score: 3486.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.