Description: Homo sapiens dynamin 2 (DNM2), transcript variant 2, mRNA. RefSeq Summary (NM_001005361): Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]. Transcript (Including UTRs) Position: hg19 chr19:10,828,729-10,942,586 Size: 113,858 Total Exon Count: 21 Strand: + Coding Region Position: hg19 chr19:10,828,919-10,941,723 Size: 112,805 Coding Exon Count: 21
ID:E9PEQ4_HUMAN DESCRIPTION: SubName: Full=Dynamin-2; SIMILARITY: Belongs to the dynamin family. SIMILARITY: Contains 1 GED domain. SIMILARITY: Contains 1 PH domain. CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): DNM2 CDC HuGE Published Literature: DNM2 Positive Disease Associations: Coronary Disease
, Lipoproteins, LDL Related Studies:
Coronary Disease Guillaume Lettre et al. PLoS genetics 2011, Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project., PLoS genetics.
[PubMed 21347282]
suggest that no major loci uniquely explain the high prevalence of CHD in African Americans.
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.
ModBase Predicted Comparative 3D Structure on E9PEQ4
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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.