Human Gene AKR1E2 (uc031ptd.1) Description and Page Index
  Description: Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), transcript variant 5, non-coding RNA.
RefSeq Summary (NM_001040177): 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: 10 Strand: +


Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsOther 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)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneNetwork
H-INVHGNCLynxOMIMPubMedStanford SOURCE

-  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

-  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.

-  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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  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.
JD562521 - Sequence 543545 from Patent EP1572962.
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: NM_001040177, NR_073126, uc001ihj.3
UCSC ID: uc031ptd.1
RefSeq Accession: NM_001040177

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: yes RNA accession: NR_073126.1
exon count: 10CDS single in 3' UTR: no RNA size: 1639
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 846.00frame shift in genome: no % Coverage: 99.02
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.