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 transc... See more...

Aliases for AKR1E2 Gene

Aliases for AKR1E2 Gene

  • Aldo-Keto Reductase Family 1 Member E2 2 3 4 5
  • 1,5-Anhydro-D-Fructose Reductase 2 3 4
  • HtAKR 2 3 4
  • Aldo-Keto Reductase Family 1 Member C-Like Protein 2 3 4
  • Aldo-Keto Reductase Family 1, Member C-Like 2 2 3
  • Human Testis Aldo-Keto Reductase 2 3
  • Human Testis Specific Protein 2 3
  • Testis Aldo-Keto Reductase 3 4
  • Testis-Specific Protein 3 4
  • AF Reductase 3 4
  • EC 1.1.1.263 4 50
  • AKR1CL2 3 4
  • LoopADR 3 4
  • AKRDC1 3 4
  • HTSP1 2 3
  • HTSP 3 4
  • Aldo-Keto Reductase LoopADR 3
  • MGC10612 2
  • EC 1.1.1 50
  • AKR1E2 5
  • TAKR 3

External Ids for AKR1E2 Gene

Previous HGNC Symbols for AKR1E2 Gene

  • AKRDC1
  • AKR1CL2

Previous GeneCards Identifiers for AKR1E2 Gene

  • GC10P004829

Summaries for AKR1E2 Gene

Entrez Gene Summary for AKR1E2 Gene

  • 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]

GeneCards Summary for AKR1E2 Gene

AKR1E2 (Aldo-Keto Reductase Family 1 Member E2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 1,5-anhydro-D-fructose reductase activity. An important paralog of this gene is AKR1B1.

UniProtKB/Swiss-Prot Summary for AKR1E2 Gene

  • Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH-dependent reductase activity towards 9,10-phenanthrenequinone (in vitro) (PubMed:12604216, PubMed:15118078).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKR1E2 Gene

Genomics for AKR1E2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AKR1E2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J004825 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 258.2 +39.9 39944 2 MYC IKZF1 ZNF592 POLR2A REST HES1 BHLHE40 MBD2 TBP ZNF217 AKR1E2 HSALNG0075820 HSALNG0075821 UCN3 TUBAL3 AKR1C2 AKR1C1
GH10J004786 Enhancer 0.3 Ensembl 250.7 0.0 -28 0.4 CREB1 FOS AKR1E2 ENSG00000287023
GH10J004731 Enhancer 0.9 Ensembl ENCODE 21.1 -53.3 -53332 2.6 CEBPA ZNF217 CEBPB CTBP1 RARA GABPB1 FOSL2 SIN3A JUND SMARCE1 lnc-AKR1C2-8 AKR1E2 TASOR2 piR-38352-033 LOC105376375 ENSG00000287023 KLF6
GH10J005486 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 10.3 +701.7 701655 4.5 MYC IKZF1 ZNF217 SMAD5 MBD2 ZBTB7B CTBP1 NBN NKRF ELF1 TUBAL3 CALML3-AS1 FBH1 ENSG00000226647 TASOR2 CALML3 ENSG00000256462 AKR1E2 CALML5 UCN3
GH10J004847 Enhancer 1.2 FANTOM5 ENCODE 11 +62.5 62476 4 BCLAF1 MYC ZNF654 NCOR1 IKZF1 SSRP1 JUND ZNF592 CEBPA ATF3 TASOR2 NRBF2P5 AKR1E2 ENSG00000226647 UCN3 AKR1C2 hsa-miR-5095-032 piR-31365 HSALNG0075824 AKR1C1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKR1E2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKR1E2

Genomic Locations for AKR1E2 Gene

Latest Assembly
chr10:4,786,629-4,908,421
(GRCh38/hg38)
Size:
121,793 bases
Orientation:
Plus strand

Previous Assembly
chr10:4,868,369-4,890,254
(GRCh37/hg19 by Entrez Gene)
Size:
21,886 bases
Orientation:
Plus strand

chr10:4,828,821-4,890,254
(GRCh37/hg19 by Ensembl)
Size:
61,434 bases
Orientation:
Plus strand

Genomic View for AKR1E2 Gene

Genes around AKR1E2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKR1E2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKR1E2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKR1E2 Gene

Proteins for AKR1E2 Gene

  • Protein details for AKR1E2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JD6-AKCL2_HUMAN
    Recommended name:
    1,5-anhydro-D-fructose reductase
    Protein Accession:
    Q96JD6
    Secondary Accessions:
    • Q86Z16
    • Q86Z17
    • Q86Z18
    • Q9BU71

    Protein attributes for AKR1E2 Gene

    Size:
    320 amino acids
    Molecular mass:
    36589 Da
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for AKR1E2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKR1E2 Gene

Selected DME Specific Peptides for AKR1E2 Gene

Q96JD6:
  • NIQVFDF
  • YLDLYLIHWPMGFKP
  • NQIECHPYL
  • KLWCTCHKKSLV
  • AIDAGYRH
  • VSVTAYRPLGGS

Post-translational modifications for AKR1E2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for AKR1E2 Gene

Gene Families for AKR1E2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for AKR1E2 Gene

Suggested Antigen Peptide Sequences for AKR1E2 Gene

GenScript: Design optimal peptide antigens:
  • Testis-specific protein (AKCL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96JD6

UniProtKB/Swiss-Prot:

AKCL2_HUMAN :
  • Belongs to the aldo/keto reductase family.
Family:
  • Belongs to the aldo/keto reductase family.
genes like me logo Genes that share domains with AKR1E2: view

Function for AKR1E2 Gene

Molecular function for AKR1E2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH-dependent reductase activity towards 9,10-phenanthrenequinone (in vitro) (PubMed:12604216, PubMed:15118078).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,5-anhydro-D-glucitol + NADP(+) = 1,5-anhydro-D-fructose + H(+) + NADPH; Xref=Rhea:RHEA:20665, ChEBI:CHEBI:15378, ChEBI:CHEBI:16070, ChEBI:CHEBI:16715, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.263; Evidence={ECO:0000250|UniProtKB:Q9DCT1};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=6.1 uM for 9,10-phenanthrenequinone with NADPH as cofactor {ECO:0000269|PubMed:12604216}; KM=44.3 uM for 9,10-phenanthrenequinone (at 25 degrees Celsius) {ECO:0000269|PubMed:15118078}; KM=166 uM for NADPH (at 25 degrees Celsius) {ECO:0000269|PubMed:15118078}; KM=2.3 mM for NADH (at 25 degrees Celsius) {ECO:0000269|PubMed:15118078}; Vmax=0.42 nmol/min/mg enzyme towards 9,10-phenanthrenequinone with NADPH as cofactor {ECO:0000269|PubMed:12604216};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by p-chloromercuribenzoic acid and alkyliodines.

Enzyme Numbers (IUBMB) for AKR1E2 Gene

Phenotypes From GWAS Catalog for AKR1E2 Gene

Gene Ontology (GO) - Molecular Function for AKR1E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004032 alditol:NADP+ 1-oxidoreductase activity IBA 21873635
GO:0016491 oxidoreductase activity IDA 15118078
GO:0050571 1,5-anhydro-D-fructose reductase activity IEA --
genes like me logo Genes that share ontologies with AKR1E2: view
genes like me logo Genes that share phenotypes with AKR1E2: view

miRNA for AKR1E2 Gene

miRTarBase miRNAs that target AKR1E2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR1E2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AKR1E2 Gene

Localization for AKR1E2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKR1E2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AKR1E2 gene
Compartment Confidence
cytosol 5
nucleus 4
golgi apparatus 4
mitochondrion 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKR1E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA 21873635
genes like me logo Genes that share ontologies with AKR1E2: view

Pathways & Interactions for AKR1E2 Gene

PathCards logo

SuperPathways for AKR1E2 Gene

No Data Available

Interacting Proteins for AKR1E2 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000298375 Q96JD6-AKCL2_HUMAN for AKR1E2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for AKR1E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IDA --
genes like me logo Genes that share ontologies with AKR1E2: view

No data available for Pathways by source and SIGNOR curated interactions for AKR1E2 Gene

Drugs & Compounds for AKR1E2 Gene

(3) Drugs for AKR1E2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lumateperone Approved, Investigational Pharma Enzyme 0
NADP Experimental Pharma 0
NADPH Experimental Pharma 0

(2) Additional Compounds for AKR1E2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,5-Anhydrosorbitol
  • 1,5-Anhydro-D-sorbitol
  • 1,5-Anhydroglucitol
  • 1,5-AG
  • 1,5-Anhydro-D-glucitol
  • 1-Deoxyglucose
154-58-5
D-1,5-Anhydrofructose
  • 1,5-Anhydro-D-fructose
  • 1,5-Anhydrofructose
  • 15-Anhydro-D-fructose
  • 1:5-Anhydro-D-fructose
75414-43-6
genes like me logo Genes that share compounds with AKR1E2: view

Transcripts for AKR1E2 Gene

mRNA/cDNA for AKR1E2 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR1E2

Alternative Splicing Database (ASD) splice patterns (SP) for AKR1E2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - -
SP2: - -
SP3: -
SP4: - - - -
SP5: - - -
SP6: - - - - -
SP7:
SP8: - - -

Relevant External Links for AKR1E2 Gene

GeneLoc Exon Structure for
AKR1E2

Expression for AKR1E2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AKR1E2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AKR1E2 Gene

This gene is overexpressed in Testis (x12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AKR1E2 Gene



Protein tissue co-expression partners for AKR1E2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKR1E2

SOURCE GeneReport for Unigene cluster for AKR1E2 Gene:

Hs.657944

mRNA Expression by UniProt/SwissProt for AKR1E2 Gene:

Q96JD6-AKCL2_HUMAN
Tissue specificity: Specifically expressed in testis (PubMed:12604216, PubMed:15118078). Expressed in testicular germ cells and testis interstitial cells (PubMed:15118078).

Evidence on tissue expression from TISSUES for AKR1E2 Gene

  • Intestine(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with AKR1E2: view

Primer products for research

No data available for Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKR1E2 Gene

Orthologs for AKR1E2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AKR1E2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AKR1E2 29 30
  • 99.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AKR1E2 29 30
  • 79.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AKR1E2 29 30
  • 79.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Akr1e1 29 16 30
  • 78.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Akr1e2 29
  • 78.63 (n)
Oppossum
(Monodelphis domestica)
Mammalia AKR1E2 30
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 63 (a)
OneToMany
-- 30
  • 58 (a)
OneToMany
Chicken
(Gallus gallus)
Aves AKR 30
  • 59 (a)
OneToMany
-- 30
  • 58 (a)
OneToMany
-- 30
  • 58 (a)
OneToMany
-- 30
  • 58 (a)
OneToMany
AKR1B1L 30
  • 58 (a)
OneToMany
-- 30
  • 46 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 60 (a)
OneToMany
-- 30
  • 59 (a)
OneToMany
-- 30
  • 54 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii akr1b1 30
  • 55 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG6084 30
  • 47 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G01670 29
  • 48.47 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0474600 29
  • 50.63 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 42 (a)
OneToMany
Species where no ortholog for AKR1E2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for AKR1E2 Gene

ENSEMBL:
Gene Tree for AKR1E2 (if available)
TreeFam:
Gene Tree for AKR1E2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKR1E2: view image
Alliance of Genome Resources:
Additional Orthologs for AKR1E2

Paralogs for AKR1E2 Gene

(11) SIMAP similar genes for AKR1E2 Gene using alignment to 5 proteins:

  • AKCL2_HUMAN
  • E9PK93_HUMAN
  • G3V1C1_HUMAN
  • H0YCI2_HUMAN
  • H0YDE8_HUMAN
genes like me logo Genes that share paralogs with AKR1E2: view

Variants for AKR1E2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKR1E2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs376175229 Likely Benign: not provided 4,835,742(+) AG/A
NM_001040177.3(AKR1E2):c.394del (p.Asp132fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
rs548108585 Likely Benign: not provided 4,839,753(+) CA/C
NM_001040177.3(AKR1E2):c.608del (p.Gln203fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs61745201 Benign: not provided 4,830,738(+) G/A
NM_001040177.3(AKR1E2):c.103G>A (p.Asp35Asn)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs17133693 -- p.Lys86Arg
rs35429729 -- p.Cys52Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AKR1E2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AKR1E2 Gene

Variant ID Type Subtype PubMed ID
esv2665522 CNV deletion 23128226
esv3545807 CNV deletion 23714750
esv4850 CNV loss 18987735
nsv1045155 CNV loss 25217958

Variation tolerance for AKR1E2 Gene

Residual Variation Intolerance Score: 94.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.02; 80.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKR1E2 Gene

Human Gene Mutation Database (HGMD)
AKR1E2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKR1E2
Leiden Open Variation Database (LOVD)
AKR1E2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKR1E2 Gene

Disorders for AKR1E2 Gene

Additional Disease Information for AKR1E2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for AKR1E2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AKR1E2 Gene

Publications for AKR1E2 Gene

  1. Characterization of htAKR, a novel gene product in the aldo-keto reductase family specifically expressed in human testis. (PMID: 15118078) Azuma Y … Miki T (Molecular human reproduction 2004) 2 3 4
  2. Human testis specific protein: a new member of aldo-keto reductase superfamily. (PMID: 12604216) Nishinaka T … Yabe-Nishimura C (Chemico-biological interactions 2003) 2 3 4
  3. Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis. (PMID: 25085501) Bunyavanich S … Weiss ST (BMC medical genomics 2014) 3
  4. Genome wide association study: searching for genes underlying body mass index in the Chinese. (PMID: 24827717) Yang F … Deng HW (Biomedical and environmental sciences : BES 2014) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3

Products for AKR1E2 Gene

Sources for AKR1E2 Gene