Human Gene AKR1E2 (uc001ihk.4) Description and Page Index
Description: Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), transcript variant 2, mRNA. RefSeq Summary (NM_001271021): The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. Transcript (Including UTRs) Position: hg19 chr10:4,868,369-4,890,251 Size: 21,883 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr10:4,868,517-4,889,722 Size: 21,206 Coding Exon Count: 8
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): AKR1E2 CDC HuGE Published Literature: AKR1E2 Positive Disease Associations: Lipoproteins, VLDL Related Studies:
Lipoproteins, VLDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
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
Pfam Domains: PF00248 - Aldo/keto reductase family
ModBase Predicted Comparative 3D Structure on Q96JD6-2
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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.