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
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.
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.
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.
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.
Pfam Domains: PF12004 - Domain of unknown function (DUF3498)
SCOP Domains: 48350 - GTPase activation domain, GAP
ModBase Predicted Comparative 3D Structure on B3KW96
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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.