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 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:4,868,369-4,890,251)mRNA (may differ from genome)Protein (263 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
Stanford SOURCEUniProtKB

-  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:
  1. 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. [PubMed 17903299]
    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.

-  MalaCards Disease Associations
  MalaCards Gene Search: AKR1E2
Diseases sorted by gene-association score: hypotrichosis 1 (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 19.71 RPKM in Testis
Total median expression: 59.71 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 -72.80148-0.492 Picture PostScript Text
3' UTR -175.80529-0.332 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
  Pfam Domains:
PF00248 - Aldo/keto reductase family

SCOP Domains:
51430 - NAD(P)-linked oxidoreductase

ModBase Predicted Comparative 3D Structure on Q96JD6-2
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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    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  BC023972 - Homo sapiens aldo-keto reductase family 1, member C-like 2, mRNA (cDNA clone IMAGE:5200717), partial cds.
AK074211 - Homo sapiens cDNA FLJ23631 fis, clone CAS03385, highly similar to Homo sapiens aldo-keto reductase loopADR mRNA.
BC002862 - Homo sapiens aldo-keto reductase family 1, member C-like 2, mRNA (cDNA clone MGC:10612 IMAGE:3941289), complete cds.
AK302155 - Homo sapiens cDNA FLJ54291 complete cds, moderately similar to Homo sapiens aldo-keto reductase family 1, member C-like 2 (AKR1CL2), mRNA.
AB040820 - Homo sapiens mRNA for aldo-keto reductase related protein 1, complete cds.
AB040821 - Homo sapiens mRNA for aldo-keto reductase related protein 2, complete cds.
AB040822 - Homo sapiens mRNA for aldo-keto reductase related protein 3, complete cds.
AF263242 - Homo sapiens aldo-keto reductase loopADR mRNA, complete cds.
CU678252 - Synthetic construct Homo sapiens gateway clone IMAGE:100018818 5' read AKR1CL2 mRNA.
HQ447817 - Synthetic construct Homo sapiens clone IMAGE:100071160; CCSB004402_01 aldo-keto reductase family 1, member C-like 2 (AKR1CL2) gene, encodes complete protein.
KJ903349 - Synthetic construct Homo sapiens clone ccsbBroadEn_12743 AKR1E2 gene, encodes complete protein.
AB055603 - Homo sapiens mRNA for aldo-keto reductase related protein 4, complete cds.
JD177957 - Sequence 158981 from Patent EP1572962.
JD556130 - Sequence 537154 from Patent EP1572962.
JD110925 - Sequence 91949 from Patent EP1572962.
JD343616 - Sequence 324640 from Patent EP1572962.
JD334287 - Sequence 315311 from Patent EP1572962.
JD461145 - Sequence 442169 from Patent EP1572962.
JD122923 - Sequence 103947 from Patent EP1572962.
JD411196 - Sequence 392220 from Patent EP1572962.
JD311117 - Sequence 292141 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AKR1CL2, AKRDC1, NM_001271021, NP_001257950, Q96JD6-2, uc001ihk.3
UCSC ID: uc001ihk.4
RefSeq Accession: NM_001271021
Protein: Q96JD6-2, splice isoform of Q96JD6 CCDS: CCDS59209.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001271021.1
exon count: 8CDS single in 3' UTR: no RNA size: 1485
ORF size: 792CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1731.50frame shift in genome: no % Coverage: 98.92
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.