AKR1E2 Gene
protein-coding GIFtS: 46
GCID: GC10P004829
|
|
aldo-keto reductase family 1, member E2(Previous names: aldo-keto reductase family 1, member C-like 2 )
(Previous symbols: AKRDC1, AKR1CL2)
| |
Aliases
for AKR1E2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Aldo-Keto Reductase Family 1, Member E21 2 | | HTSP1 | | AKR1CL21 2 3 | | EC 1.1.1.2633 8 | | AKRDC11 2 3 | | MGC106121 | | Aldo-Keto Reductase Family 1, Member C-Like 21 2 | | 1,5-Anhydro-D-Fructose Reductase2 | | Aldo-Keto Reductase Family 1 Member C-Like Protein 22 3 | | Aldo-Keto Reductase LoopADR2 | | Testis-Specific Protein2 3 | | HtAKR1 | | LoopADR2 3 | | Aldo-Keto Reductase Family 1 Member E23 | | AF Reductase2 3 | | EC 1.1.18 |
Export aliases for AKR1E2 gene to outside databases |
Summaries
for AKR1E2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for AKR1E2:
The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family arecharacterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependentoxido-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)
UniProtKB/Swiss-Prot: AKCL2_HUMAN, Q96JD6Function: Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol. Can alsocatalyze the reduction of various aldehydes and quinones (By similarity). Has low NADPH-dependent reductase activitytowards 9,10-phenanthrenequinone (in vitro)
|
Genomic Views
for AKR1E2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_008705.16
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for AKR1E2
Other transcription factors
Search SABiosciences Chromatin IP Primers for AKR1E2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKR1E2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10p15.1 Ensembl cytogenetic band: 10p15.1 HGNC cytogenetic band: 10p15.2AKR1E2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P004829: view genomic region
(about GC identifiers)
Start:
|
4,828,820 bp from pter |
End:
|
4,890,254 bp from pter |
Size:
|
61,435 bases |
Orientation:
|
plus strand |
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Proteins
for AKR1E2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AKCL2_HUMAN, Q96JD6 (See
protein sequence)Recommended Name: 1,5-anhydro-D-fructose reductase Size: 320 amino acids; 36589 Da
Subcellular location: Cytoplasm (Potential)
Secondary accessions: Q86Z16 Q86Z17 Q86Z18 Q9BU71Alternative splicing: 5 isoforms: Q96JD6-1 Q96JD6-2 Q96JD6-3 Q96JD6-4 Q96JD6-5 Explore the universe of human proteins at neXtProt for AKR1E2: NX_Q96JD6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96JD6
4/6 DME Specific Peptides for AKR1E2 (Q96JD6) (see all 6)
AKR1E2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001035267.1 NP_001257950.1 NP_001257954.1
ENSEMBL proteins: ENSP00000432861 ENSP00000435436 ENSP00000434437 ENSP00000436794 ENSP00000298375 ENSP00000432947 ENSP00000335034 ENSP00000335603 ENSP00000433496 ENSP00000431625
Human Recombinant Protein Products for AKR1E2:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005737 | cytoplasm |
IEA | -- |
AKR1E2 for ontologies About GeneDecksing
AKR1E2 Antibody Products:
Assay Products for AKR1E2: |
Protein
Domains /
Families
for AKR1E2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AKR1E2 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96JD6ProtoNet protein and cluster: Q96JD6 1 Blocks protein family: IPB001395 Aldo/keto reductase
UniProtKB/Swiss-Prot: AKCL2_HUMAN, Q96JD6Similarity: Belongs to the aldo/keto reductase family |
Function
for AKR1E2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: AKCL2_HUMAN, Q96JD6Function: Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol. Can alsocatalyze the reduction of various aldehydes and quinones (By similarity). Has low NADPH-dependent reductase activitytowards 9,10-phenanthrenequinone (in vitro)Catalytic activity: 1,5-anhydro-D-glucitol + NADP(+) = 1,5-anhydro-D-fructose + NADPHBiophysicochemical 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; Enzyme Numbers (IUBMB): EC 1.1.1.2631 2 EC 1.1.12
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016491 | oxidoreductase activity |
-- | -- | | GO:0050571 | 1,5-anhydro-D-fructose reductase activity |
IEA | -- |
AKR1E2 for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for AKR1E2:
Animal Models:
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AKR1E2
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1E2 |
|
Pathways & Interactions
for AKR1E2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AKR1E2
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for AKR1E2 (ENSP000002983754) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for AKR1E2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AKR1E2
Search CenterWatch for drugs/clinical trials and news about AKR1E2 / AKCL2
|
Transcripts
for AKR1E2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for AKR1E2 gene (4 alternative transcripts): NM_001040177.2 NM_001271021.1 NM_001271025.1 NM_031436.2 Unigene Cluster for AKR1E2: Aldo-keto reductase family 1, member E2 Hs.657944 [show with all ESTs]Unigene Representative Sequence: NR_07312513 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000462718 ENST00000533295 ENST00000474119 ENST00000463345(uc001ihh.1 uc001ihi.3 uc001ihj.3 uc001ihk.3 uc009xhw.3)
ENST00000298375 ENST00000525281(uc010qam.1) ENST00000525627 ENST00000532248
ENST00000334019 ENST00000345253 ENST00000441590 ENST00000525572 ENST00000487985
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AKR1E2 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AKR1E2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: AKR1E2 (NM_001040177) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AKR1E2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKR1E2 |
Additional cDNA sequence: AB040820.1 AB040821.1 AB040822.1 AB055603.1 AF263242.1 AK074211.1 AK302155.1 BC002862.2 BC023972.1 NR_073125.1 NR_073126.1 NR_073127.1 9 DOTS entries: DT.200215 DT.100778415 DT.40282105 DT.97835014 DT.100778414 DT.100778416 DT.91674634 DT.121225001 DT.97799450 24/413 AceView cDNA sequences (see all 413): CB108102 AF263242 BM819993 CB108557 CB107471 BU158378 T15924 BU630856 BM979883 AI205722 BM982500 CB106549 CB108084 CB123890 AI203621 CB108526 BM976106 BU685864 CB119097 T11412 CB107086 CR598545 AA962456 CA310606
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AKR1E2 (see all 8) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b |
|---|
|
| SP1: | | | | | - | | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | | | | | | | | | | | | | - | | | | | | |
| SP3: | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | - | | | | | | - | | - | | | | | | - | | | | | | |
| SP5: | | | | | | | | | | | | | - | | | | | | - | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for AKR1E2
|
Expression
for AKR1E2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AKR1E2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAATATGGC
About this image
See AKR1E2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AKR1E2
SOURCE GeneReport for Unigene cluster: Hs.657944
UniProtKB/Swiss-Prot: AKCL2_HUMAN, Q96JD6Tissue specificity: Testis-specific
SABiosciences Custom PCR Arrays for AKR1E2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AKR1E2
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1E2 |
Orthologs
for AKR1E2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for AKR1E2 gene from 6/20 species (see all 20) About this table
ENSEMBL Gene Tree for AKR1E2 (if available)
TreeFam Gene Tree for AKR1E2 (if available) |
Paralogs
for AKR1E2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for AKR1E2 gene
- AKR1C22 AKR1C32 AKR1CL12 AKR1B102 AKR1A12 AKR1C42 AKR1B152 AKR1B12
- AKR1D12 AKR1C12
11 SIMAP similar genes for AKR1E2 using alignment to 6 protein entries: AKCL2_HUMAN (see all proteins):AKR1B1 AKR1B10 AKR1B15 AKR1C3 AKR1CL1 LOC402299
AKR1C1 AKR1C4 AKR1A1 AKR1C2 AKR1D1
AKR1E2 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for AKR1E2
PGOHUM00000238337
|
Genomic Variants
for AKR1E2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AKR1E2 (4828820 - 4890254 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for AKR1E2
1 Indel: 41565 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AKR1E2 |
|
Disorders
/ Diseases
for AKR1E2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AKR1E2 for disorders About GeneDecksing
2  diseases for AKR1E2: About MalaCardsfood allergy alzheimer's disease
Human Genome Epidemiology (HuGE) Navigator: AKR1E2 (0 documents)
Export disorders for AKR1E2 gene to outside databases
|
Publications
for AKR1E2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for AKR1E2 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with AKR1E2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Human testis specific protein: a new member of aldo-keto reductase superfamily. (PubMed id 12604216)1, 2 Nishinaka T.... Yabe-Nishimura C. (2003)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. (PubMed id 20662065)1 Clancy R.M....Buyon J.P. (2010)
- Aldo-keto reductase (AKR) superfamily: genomics and a nnotation. (PubMed id 19706366)1 Mindnich R.D. and Penning T.M. (2009)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (2004)
- Characterization of htAKR, a novel gene product in the aldo-keto reductase family specifically expressed in human testis. (PubMed id 15118078)1 Azuma Y....Miki T. (2004)
|
External Searches for AKR1E2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing AKR1E2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AKR1E2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AKR1E2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for AKR1E2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for AKR1E2 gene:
Search GeneIP for patents involving AKR1E2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for AKR1E2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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