Human Gene AKR1E2 (ENST00000345253.9) from GENCODE V44
  Description: Homo sapiens aldo-keto reductase family 1 member E2 (AKR1E2), transcript variant 3, mRNA. (from RefSeq NM_001271025)
RefSeq Summary (NM_001271025): 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].
Gencode Transcript: ENST00000345253.9
Gencode Gene: ENSG00000165568.18
Transcript (Including UTRs)
   Position: hg38 chr10:4,826,296-4,847,745 Size: 21,450 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr10:4,826,325-4,847,530 Size: 21,206 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:4,826,296-4,847,745)mRNA (may differ from genome)Protein (222 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AKCL2_HUMAN
DESCRIPTION: RecName: Full=1,5-anhydro-D-fructose reductase; Short=AF reductase; EC=1.1.1.263; AltName: Full=Aldo-keto reductase family 1 member C-like protein 2; AltName: Full=Aldo-keto reductase family 1 member E2; AltName: Full=LoopADR; AltName: Full=Testis-specific protein; Short=hTSP;
FUNCTION: Catalyzes the NADPH-dependent reduction of 1,5-anhydro- D-fructose (AF) to 1,5-anhydro-D-glucitol. Can also catalyze the reduction of various aldehydes and quinones (By similarity). Has low NADPH-dependent reductase activity towards 9,10- phenanthrenequinone (in vitro).
CATALYTIC ACTIVITY: 1,5-anhydro-D-glucitol + NADP(+) = 1,5- anhydro-D-fructose + NADPH.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=6.1 uM for 9,10-phenanthrenequinone with NADPH as cofactor; Vmax=0.42 nmol/min/mg enzyme towards 9,10-phenanthrenequinone with NADPH as cofactor;
SUBCELLULAR LOCATION: Cytoplasm (Potential).
TISSUE SPECIFICITY: Testis-specific.
SIMILARITY: Belongs to the aldo/keto reductase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.4029-0.428 Picture PostScript Text
3' UTR -75.10215-0.349 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
  InterPro Domains: Graphical view of domain structure
IPR001395 - Aldo/ket_red
IPR018170 - Aldo/ket_reductase_CS
IPR020471 - Aldo/keto_reductase_subgr
IPR023210 - NADP_OxRdtase_dom

Pfam Domains:
PF00248 - Aldo/keto reductase family

ModBase Predicted Comparative 3D Structure on Q96JD6
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016491 oxidoreductase activity
GO:0050571 1,5-anhydro-D-fructose reductase activity

Biological Process:
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol


-  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.

-  Other Names for This Gene
  Alternate Gene Symbols: AKCL2_HUMAN, AKR1CL2, AKRDC1, ENST00000345253.1, ENST00000345253.2, ENST00000345253.3, ENST00000345253.4, ENST00000345253.5, ENST00000345253.6, ENST00000345253.7, ENST00000345253.8, NM_001271025, Q86Z16, Q86Z17, Q86Z18, Q96JD6, Q9BU71, uc009xhw.1, uc009xhw.2, uc009xhw.3, uc009xhw.4, uc009xhw.5
UCSC ID: ENST00000345253.9
RefSeq Accession: NM_001271025
Protein: Q96JD6 (aka AKCL2_HUMAN)
CCDS: CCDS59210.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.